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
KCNK10	54207	broad.mit.edu	37	14	88652379	88652379	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:88652379G>A	ENST00000340700.5	-	7	1568	c.1117C>T	c.(1117-1119)Cgc>Tgc	p.R373C	KCNK10_ENST00000312350.5_Missense_Mutation_p.R378C|KCNK10_ENST00000319231.5_Missense_Mutation_p.R378C	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	373					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCCATGCTGCGGATGGTGGCC	0.672000													12	26					0	0	0.001368	0	0
ANKRD17	26057	broad.mit.edu	37	4	73990707	73990707	+	Missense_Mutation	SNP	C	C	A	rs149296080		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:73990707C>A	ENST00000358602.4	-	18	3531	c.3415G>T	c.(3415-3417)Ggt>Tgt	p.G1139C	ANKRD17_ENST00000509867.2_Missense_Mutation_p.G1026C|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.G888C	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1139					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGTCTGCACCATTGTCCAGC	0.458000													42	77					1.03325e-14	2.03629e-14	0.002852	1	0
ENPP1	5167	broad.mit.edu	37	6	132168933	132168933	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:132168933G>T	ENST00000360971.2	+	2	278	c.258G>T	c.(256-258)gtG>gtT	p.V86V		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	86					3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CAGTATGTGTGTTAACAACAA	0.328000													8	49					2.80697e-09	4.57313e-09	0.000978	1	0
TRBC2	28638	broad.mit.edu	37	7	142499796	142499796	+	RNA	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:142499796C>A	ENST00000466254.1	+	0	413																											CAGAGTCTTACCAGCAAGGGG	0.572000													25	95					1.55469e-16	3.2194e-16	0.003330	1	0
TNKS1BP1	85456	broad.mit.edu	37	11	57087681	57087681	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:57087681C>G	ENST00000532437.1	-	2	911	c.600G>C	c.(598-600)agG>agC	p.R200S	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R200S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	200	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGCCATAGGTCCTGGGGCCAT	0.642000													7	42					0	0	0.003080	0	0
IGSF10	285313	broad.mit.edu	37	3	151163195	151163195	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:151163195G>T	ENST00000282466.3	-	4	4573	c.4574C>A	c.(4573-4575)tCc>tAc	p.S1525Y		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1525					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AACCTTGGGGGATGTTGCAAC	0.453000													33	105					4.31634e-10	7.35674e-10	0.002445	1	0
COL27A1	85301	broad.mit.edu	37	9	117005815	117005815	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:117005815G>T	ENST00000356083.3	+	23	3300	c.2909G>T	c.(2908-2910)gGg>gTg	p.G970V		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	970	Collagen-like 6.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGGTTTCCTGGGAGGCCCGGC	0.627000													4	34					1.024e-07	1.54346e-07	0.000602	1	0
XRCC6BP1	91419	broad.mit.edu	37	12	58350590	58350590	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:58350590G>T	ENST00000300145.3	+	6	783	c.658G>T	c.(658-660)Gga>Tga	p.G220*	XRCC6BP1_ENST00000546709.1_3'UTR	NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	220					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						TGAACCTTTTGGAAGGATCCC	0.358000													15	86					6.49762e-13	1.21713e-12	0.006122	1	0
ABL2	27	broad.mit.edu	37	1	179078074	179078074	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:179078074C>A	ENST00000502732.1	-	12	2531	c.2328G>T	c.(2326-2328)aaG>aaT	p.K776N	ABL2_ENST00000507173.1_Intron|ABL2_ENST00000511413.1_Intron|ABL2_ENST00000408940.3_Missense_Mutation_p.K740N|ABL2_ENST00000504405.1_Intron|ABL2_ENST00000367623.4_Missense_Mutation_p.K755N|ABL2_ENST00000512653.1_Missense_Mutation_p.K761N|ABL2_ENST00000344730.3_Intron	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	776	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTGGAAAAGGCTTGGAAGTGT	0.512000			T	ETV6	AML								37	100					2.35958e-20	5.15453e-20	0.009718	1	0
COL20A1	57642	broad.mit.edu	37	20	61950462	61950462	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:61950462C>G	ENST00000422202.1	+	21	2805	c.2737C>G	c.(2737-2739)Cgc>Ggc	p.R913G	COL20A1_ENST00000326996.6_Missense_Mutation_p.R906G|COL20A1_ENST00000435874.1_Missense_Mutation_p.R913G|COL20A1_ENST00000358894.6_Missense_Mutation_p.R906G			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	906	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTTCCTTGTGCGCCTACTTCC	0.642000													6	25					0	0	0.001984	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75388085	75388085	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:75388085C>A	ENST00000555647.1	-	3	447	c.160G>T	c.(160-162)Gcc>Tcc	p.A54S	RPS6KL1_ENST00000354625.2_Missense_Mutation_p.A54S|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.A54S|RPS6KL1_ENST00000554900.1_Intron|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.A54S			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	54						ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		ATCTGCGTGGCCGCATCCACC	0.592000													5	53					0.000602214	0.000709753	0.000602	1	0
CYP4A11	1579	broad.mit.edu	37	1	47395937	47395937	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:47395937G>T	ENST00000310638.4	-	12	1441	c.1410C>A	c.(1408-1410)gcC>gcA	p.A470A	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Silent_p.A471A	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	470					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TCAGGGCCGTGGCCACCTTCA	0.537000													15	82					3.41278e-10	5.83597e-10	0.004990	1	0
IGSF10	285313	broad.mit.edu	37	3	151171193	151171193	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:151171193C>A	ENST00000282466.3	-	3	693	c.694G>T	c.(694-696)Gac>Tac	p.D232Y		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	232	LRRCT.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTATCCAGTCAGACAACCAC	0.438000													21	115					2.21704e-12	4.11318e-12	0.002780	1	0
CCL7	6354	broad.mit.edu	37	17	32598239	32598239	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:32598239T>A	ENST00000378569.2	+	2	221	c.151T>A	c.(151-153)Tac>Aac	p.Y51N	CCL7_ENST00000394630.3_Intron|CCL7_ENST00000200307.4_Missense_Mutation_p.Y61N|CCL7_ENST00000394627.1_Silent_p.A68A	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	51					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GCTGGAGAGCTACAGAAGGAC	0.483000													23	59					0	0	0.002299	0	0
MEGF8	1954	broad.mit.edu	37	19	42874405	42874405	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:42874405G>T	ENST00000334370.4	+	38	7333	c.6698G>T	c.(6697-6699)cGg>cTg	p.R2233L	MEGF8_ENST00000378073.4_5'UTR|MEGF8_ENST00000251268.6_Missense_Mutation_p.R2300L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2300						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGGACCTGCCGGCCCTGCCAC	0.577000													8	37					0.00621372	0.00689376	0.006214	1	0
DDRGK1	65992	broad.mit.edu	37	20	3183939	3183939	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:3183939C>A	ENST00000354488.3	-	2	272	c.215G>T	c.(214-216)aGc>aTc	p.S72I	DDRGK1_ENST00000380201.2_Missense_Mutation_p.S72I	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	72						endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						CTGTAGGCGGCTGCCCAGGTC	0.716000													6	18					3.59834e-05	4.61623e-05	0.001168	1	0
COL11A1	1301	broad.mit.edu	37	1	103548386	103548386	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:103548386A>T	ENST00000358392.2	-	2	566	c.249T>A	c.(247-249)agT>agA	p.S83R	COL11A1_ENST00000512756.1_Missense_Mutation_p.S83R|COL11A1_ENST00000370096.3_Missense_Mutation_p.S83R|COL11A1_ENST00000353414.4_Missense_Mutation_p.S83R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	83	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGTTGGGGCACTGAGTTGTG	0.318000													27	122					0	0	0.006320	0	0
HUWE1	10075	broad.mit.edu	37	X	53591627	53591627	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:53591627C>A	ENST00000342160.3	-	50	7394	c.6937G>T	c.(6937-6939)Gtg>Ttg	p.V2313L	HUWE1_ENST00000262854.6_Missense_Mutation_p.V2313L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2313	Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCATCTGCCACCTCTGTCTGA	0.522000													6	30					2.0095e-06	2.78777e-06	0.001984	1	0
HERC2P3	283755	broad.mit.edu	37	15	20588535	20588535	+	RNA	SNP	T	T	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:20588535T>G	ENST00000428453.1	-	0	4215																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GCTTTGAGAGTTTGCTCACCC	0.493000													3	64					0	0	0.004672	0	0
SCG3	29106	broad.mit.edu	37	15	51991575	51991575	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:51991575G>T	ENST00000220478.3	+	9	1448	c.1045G>T	c.(1045-1047)Gac>Tac	p.D349Y	SCG3_ENST00000542355.2_Missense_Mutation_p.D117Y	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	349					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AAATGCTACTGACAATATAAG	0.308000													32	164					3.03874e-20	6.6195e-20	0.003271	1	0
TCN1	6947	broad.mit.edu	37	11	59623350	59623350	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:59623350G>T	ENST00000257264.3	-	6	1033	c.929C>A	c.(928-930)tCt>tAt	p.S310Y	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	310					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCTGAAGCAGAGACGCAAGA	0.458000													10	56					9.70103e-10	1.63015e-09	0.008291	1	0
NOVA1	4857	broad.mit.edu	37	14	26917500	26917500	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:26917500C>A	ENST00000539517.2	-	5	1506	c.1189G>T	c.(1189-1191)Gga>Tga	p.G397*	NOVA1_ENST00000465357.2_Nonsense_Mutation_p.G373*|NOVA1_ENST00000267422.7_Nonsense_Mutation_p.G275*	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	400	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CCAAAATATCCATTGGTTGCA	0.527000													9	32					0.00448238	0.00501238	0.004482	1	0
LRCH3	84859	broad.mit.edu	37	3	197556495	197556495	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:197556495G>T	ENST00000438796.2	+	6	882	c.838G>T	c.(838-840)Gct>Tct	p.A280S	LRCH3_ENST00000441090.2_Missense_Mutation_p.A154S|LRCH3_ENST00000334859.4_Missense_Mutation_p.A280S|LRCH3_ENST00000425562.2_Missense_Mutation_p.A280S|LRCH3_ENST00000414675.2_Missense_Mutation_p.A280S			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	280						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TTGTAAGATTGCTCCAGATCT	0.348000													7	63					1.06961e-07	1.59363e-07	0.003080	1	0
OR2L3	391192	broad.mit.edu	37	1	248224243	248224243	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:248224243G>T	ENST00000359959.3	+	1	260	c.260G>T	c.(259-261)gGt>gTt	p.G87V	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTTCTGTCTGGTAACAAGTCT	0.443000													22	413					2.89027e-11	5.15265e-11	0.002299	1	0
CDK15	65061	broad.mit.edu	37	2	202672619	202672619	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:202672619G>T	ENST00000450471.2	+	3	398	c.312G>T	c.(310-312)ttG>ttT	p.L104F	CDK15_ENST00000260967.2_Missense_Mutation_p.L53F|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000374598.4_Missense_Mutation_p.L104F|CDK15_ENST00000434439.1_Missense_Mutation_p.L104F|CDK15_ENST00000410091.3_Missense_Mutation_p.L53F	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	104	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	CATCTTACTTGAACTTGGAGA	0.493000													9	55					2.17888e-05	2.83272e-05	0.006214	1	0
LRRC15	131578	broad.mit.edu	37	3	194081118	194081118	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:194081118C>A	ENST00000347624.3	-	2	740	c.655G>T	c.(655-657)Ggg>Tgg	p.G219W	LRRC15_ENST00000428839.1_Missense_Mutation_p.G225W|LRRC15_ENST00000439944.2_Missense_Mutation_p.G225W	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	219						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TTAACAAGCCCATCAAAAGTG	0.562000													15	122					1.3612e-06	1.91755e-06	0.003163	1	0
LMO7	4008	broad.mit.edu	37	13	76382301	76382301	+	Silent	SNP	A	A	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:76382301A>C	ENST00000357063.3	+	11	3298	c.2038A>C	c.(2038-2040)Aga>Cga	p.R680R	LMO7_ENST00000341547.4_Intron|LMO7_ENST00000465261.2_Silent_p.R395R|LMO7_ENST00000321797.8_Silent_p.R395R|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000377534.3_Silent_p.R680R			Q8WWI1	LMO7_HUMAN	LIM domain 7	680						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GGAGGCCAGCAGACTTAGGCA	0.527000													7	28					0	0	0.004482	0	0
PABPC5	140886	broad.mit.edu	37	X	90691474	90691474	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:90691474C>A	ENST00000312600.3	+	2	1112	c.898C>A	c.(898-900)Cca>Aca	p.P300T	PABPC5_ENST00000373105.1_Missense_Mutation_p.P136T	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	300						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AAGTCGGCCCCCAGGGGTGCC	0.443000													14	20					0.000219431	0.000266514	0.002450	1	0
TRIM38	10475	broad.mit.edu	37	6	25966891	25966891	+	Silent	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:25966891A>T	ENST00000357085.3	+	3	617	c.141A>T	c.(139-141)ccA>ccT	p.P47P	TRIM38_ENST00000349458.3_Silent_p.P47P	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	47					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TTAAAAACCCAAGCCAAAAGC	0.517000													9	55					0	0	0.001855	0	0
MYH6	4624	broad.mit.edu	37	14	23871704	23871704	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:23871704C>T	ENST00000405093.3	-	12	1180	c.1110G>A	c.(1108-1110)cgG>cgA	p.R370R	MYH6_ENST00000356287.3_Silent_p.R370R	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	370	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTGCTCCTCCCGCTGCTTCT	0.617000													14	80					0	0	0.001855	0	0
DOPEY2	9980	broad.mit.edu	37	21	37586794	37586794	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr21:37586794C>T	ENST00000399151.3	+	9	1154	c.1069C>T	c.(1069-1071)Cat>Tat	p.H357Y		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	357					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGAGGAACGCCATCATGCATA	0.388000													15	34					0	0	0.004007	0	0
AP4E1	23431	broad.mit.edu	37	15	51276288	51276288	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:51276288G>T	ENST00000261842.5	+	16	2142	c.2036G>T	c.(2035-2037)gGc>gTc	p.G679V	AP4E1_ENST00000560508.1_Missense_Mutation_p.G604V	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	679					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCTCCTGCTGGCATTTCTCTT	0.373000													28	141					2.48779e-11	4.46594e-11	0.005443	1	0
ZNF524	147807	broad.mit.edu	37	19	56113825	56113825	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:56113825G>C	ENST00000591046.1	+	1	581	c.347G>C	c.(346-348)tGc>tCc	p.C116S	ZNF524_ENST00000301073.3_Missense_Mutation_p.C116S			Q96C55	ZN524_HUMAN	zinc finger protein 524	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCACACTTCTGCCCGGTGTGC	0.642000													4	3					0	0	0.001168	0	0
VGF	7425	broad.mit.edu	37	7	100807695	100807695	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:100807695C>A	ENST00000249330.2	-	2	669	c.430G>T	c.(430-432)Gag>Tag	p.E144*	VGF_ENST00000445482.2_Nonsense_Mutation_p.E144*	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	144					response to cAMP	extracellular space|transport vesicle	growth factor activity			cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					GGCCCATTCTCCGGAGTCTGA	0.692000													6	14					0.00198382	0.00225084	0.001984	1	0
APOBEC3D	140564	broad.mit.edu	37	22	39421156	39421156	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr22:39421156T>A	ENST00000216099.7	+	3	699	c.292T>A	c.(292-294)Ttc>Atc	p.F98I	APOBEC3D_ENST00000381568.4_Missense_Mutation_p.F98I|APOBEC3D_ENST00000427494.2_Intron	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	98					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TAACAGGCGCTTCCAGATCAC	0.542000													30	49					0	0	0.008361	0	0
MKRN3	7681	broad.mit.edu	37	15	23811425	23811425	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:23811425C>A	ENST00000314520.3	+	1	972	c.496C>A	c.(496-498)Ctt>Att	p.L166I	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	166						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGCATCCTCCCTTTCCTTGCC	0.632000													5	29					0.000442599	0.000525629	0.006214	1	0
BTD	686	broad.mit.edu	37	3	15683559	15683559	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:15683559A>T	ENST00000383778.4	+	3	752	c.394A>T	c.(394-396)Aca>Tca	p.T132S	BTD_ENST00000303498.5_Missense_Mutation_p.T152S|BTD_ENST00000482824.1_3'UTR|BTD_ENST00000449107.1_Missense_Mutation_p.T154S|BTD_ENST00000437172.1_Missense_Mutation_p.T154S			P43251	BTD_HUMAN	biotinidase	152	CN hydrolase.				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						CTTCAATGACACAGAGGTGAT	0.483000													8	12					0	0	0.006214	0	0
GRK1	6011	broad.mit.edu	37	13	114324004	114324004	+	Silent	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:114324004T>A	ENST00000335678.6	+	2	934	c.702T>A	c.(700-702)ggT>ggA	p.G234G		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	234	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CTTTTCAGGGTGCTATGGTGG	0.527000													18	186					0	0	0.008871	0	0
RSPH6A	81492	broad.mit.edu	37	19	46317927	46317927	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:46317927C>A	ENST00000221538.3	-	1	650	c.508G>T	c.(508-510)Gac>Tac	p.D170Y	RSPH6A_ENST00000597055.1_Missense_Mutation_p.D170Y	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	170						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						AGGGCAGGGTCATCCCTTATG	0.612000													19	30					4.35082e-09	7.02929e-09	0.010504	1	0
TTN	7273	broad.mit.edu	37	2	179632584	179632584	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:179632584C>G	ENST00000589042.1	-	40	9597	c.9373G>C	c.(9373-9375)Ggg>Cgg	p.G3125R	TTN_ENST00000342175.6_Missense_Mutation_p.G3079R|TTN_ENST00000591111.1_Missense_Mutation_p.G3125R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G3079R|TTN_ENST00000360870.5_Missense_Mutation_p.G3125R|TTN_ENST00000359218.5_Missense_Mutation_p.G3079R|TTN_ENST00000342992.6_Missense_Mutation_p.G3125R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2862	Ig-like 18.						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)			GTGTACTTCCCAGCATCAGAC	0.453000													21	102					0	0	0.010504	0	0
POM121L12	285877	broad.mit.edu	37	7	53103418	53103418	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:53103418G>T	ENST00000408890.4	+	1	70	c.54G>T	c.(52-54)gcG>gcT	p.A18A		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	18										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCTGGAAGGCGGGAGAACCCC	0.697000													10	9					7.48243e-07	1.06764e-06	0.006214	1	0
CYP2B7P	1556	broad.mit.edu	37	19	41430217	41430217	+	RNA	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:41430217G>T	ENST00000599198.1	+	0	94					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						ACTCCTCACAGGCCTCTTGCT	0.602000													14	57					1.49906e-05	1.96538e-05	0.002450	1	0
SAMD9	54809	broad.mit.edu	37	7	92733607	92733607	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:92733607A>C	ENST00000379958.2	-	3	2073	c.1804T>G	c.(1804-1806)Tca>Gca	p.S602A		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	602						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CATTGGCTTGAAATTTCATCT	0.343000													37	94					0	0	0.004878	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28219570	28219570	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:28219570C>T	ENST00000377294.2	-	1	432	c.189G>A	c.(187-189)gaG>gaA	p.E63E	ZKSCAN4_ENST00000423974.2_Intron	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	63	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GGCCCGCAGCCTCCGGGTAGC	0.697000													10	51					0	0	0.008291	0	0
FBN2	2201	broad.mit.edu	37	5	127800498	127800498	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:127800498G>C	ENST00000508053.1	-	12	1719	c.745C>G	c.(745-747)Cat>Gat	p.H249D	FBN2_ENST00000262464.4_Missense_Mutation_p.H249D|FBN2_ENST00000508989.1_Missense_Mutation_p.H216D			P35556	FBN2_HUMAN	fibrillin 2	249	TB 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCACAGGGATGGCCCCACGCC	0.597000													8	51					0	0	0.003080	0	0
CDK15	65061	broad.mit.edu	37	2	202712137	202712137	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:202712137G>T	ENST00000450471.2	+	9	971	c.885G>T	c.(883-885)caG>caT	p.Q295H	CDK15_ENST00000260967.2_Missense_Mutation_p.Q244H|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000374598.4_Missense_Mutation_p.Q295H|CDK15_ENST00000434439.1_Missense_Mutation_p.Q295H|CDK15_ENST00000410091.3_Missense_Mutation_p.Q244H	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	295	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	AAATGTTCCAGGGTCAACCTT	0.383000													13	70					8.60227e-14	1.6533e-13	0.004007	1	0
HOXD13	3239	broad.mit.edu	37	2	176959250	176959250	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:176959250G>T	ENST00000392539.3	+	2	824	c.824G>T	c.(823-825)aGa>aTa	p.R275I		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	275					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GTCTACCGAAGAGGGAGGAAG	0.468000			T	NUP98	AML*								13	69					1.05317e-09	1.7602e-09	0.002450	1	0
MAP1B	4131	broad.mit.edu	37	5	71411623	71411623	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:71411623C>A	ENST00000296755.7	+	2	581	c.283C>A	c.(283-285)Cca>Aca	p.P95T	MAP1B_ENST00000504183.1_3'UTR	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	95						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCCTGAAGTCCCAGGTGAGGC	0.458000													12	38					1.5842e-08	2.48946e-08	0.001855	1	0
CYSLTR1	10800	broad.mit.edu	37	X	77528650	77528650	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:77528650A>T	ENST00000373304.3	-	3	886	c.594T>A	c.(592-594)ttT>ttA	p.F198L		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	198					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AAGGGATGATAAAGCCAACAA	0.303000													14	15					0	0	0.001855	0	0
LAP3	51056	broad.mit.edu	37	4	17585150	17585150	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:17585150G>T	ENST00000226299.4	+	5	698	c.424G>T	c.(424-426)Gtg>Ttg	p.V142L	LAP3_ENST00000606142.1_Missense_Mutation_p.V111L	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	142					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GTCTGTGGAGGTGGATCCCTG	0.527000													28	96					1.55811e-20	3.4085e-20	0.008361	1	0
FLRT2	23768	broad.mit.edu	37	14	86088548	86088548	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:86088548C>A	ENST00000330753.4	+	2	1457	c.690C>A	c.(688-690)acC>acA	p.T230T	FLRT2_ENST00000554746.1_Silent_p.T230T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	230					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GCCATCTCACCAAGCTCAAGG	0.527000													15	58					1.49906e-05	1.96538e-05	0.002450	1	0
CSF2RA	1438	broad.mit.edu	37	X	1413327	1413327	+	Silent	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:1413327T>C	ENST00000381524.3	+	8	939	c.753T>C	c.(751-753)ttT>ttC	p.F251F	CSF2RA_ENST00000432318.2_Silent_p.F251F|CSF2RA_ENST00000355432.3_Silent_p.F251F|CSF2RA_ENST00000417535.2_Silent_p.F251F|CSF2RA_ENST00000501036.2_Silent_p.F118F|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381500.1_Silent_p.F251F|CSF2RA_ENST00000361536.3_Silent_p.F251F|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381509.3_Silent_p.F251F|CSF2RA_ENST00000381529.3_Silent_p.F251F			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	251						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACCTGGACTTTCAGTACCAGC	0.617000													12	48					0	0	0.000978	0	0
AEBP1	165	broad.mit.edu	37	7	44153237	44153237	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:44153237C>A	ENST00000223357.3	+	21	3159	c.2854C>A	c.(2854-2856)Cgc>Agc	p.R952S	AEBP1_ENST00000450684.2_Missense_Mutation_p.R527S	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	952	Interaction with PTEN (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GGGTGAGTACCGCGTGACAGC	0.642000													14	32					4.14922e-12	7.63397e-12	0.004007	1	0
DNAH9	1770	broad.mit.edu	37	17	11593470	11593470	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:11593470G>T	ENST00000262442.3	+	20	4399	c.4331G>T	c.(4330-4332)tGg>tTg	p.W1444L	DNAH9_ENST00000454412.2_Missense_Mutation_p.W1444L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1444	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGACTACCTGGGCTGGCATG	0.527000													26	26					1.42536e-11	2.58263e-11	0.004656	1	0
HSD3B2	3284	broad.mit.edu	37	1	119965146	119965146	+	Missense_Mutation	SNP	C	C	A	rs121964897		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:119965146C>A	ENST00000543831.1	+	4	1271	c.1022C>A	c.(1021-1023)cCa>cAa	p.P341Q	HSD3B2_ENST00000369416.3_Missense_Mutation_p.P341Q	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	341			P -> L (in AH2; strongly reduced activity).		androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GCGTATAAGCCACTCTACAGC	0.507000													8	61					0.000442599	0.000525629	0.006214	1	0
TRAPPC9	83696	broad.mit.edu	37	8	140744431	140744431	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:140744431C>G	ENST00000389328.4	-	22	3378	c.3364G>C	c.(3364-3366)Gga>Cga	p.G1122R	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.G1015R|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.G1024R|TRAPPC9_ENST00000522504.1_5'UTR	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	1024					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CATGGCTGTCCGTCCACCAGC	0.692000													4	13					0	0	0.009096	0	0
ATP2B3	492	broad.mit.edu	37	X	152814989	152814989	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:152814989T>A	ENST00000370186.1	+	9	1657	c.1331T>A	c.(1330-1332)cTg>cAg	p.L444Q	ATP2B3_ENST00000393842.1_Missense_Mutation_p.L444Q|ATP2B3_ENST00000370181.2_Missense_Mutation_p.L444Q|ATP2B3_ENST00000359149.3_Missense_Mutation_p.L458Q|ATP2B3_ENST00000349466.2_Missense_Mutation_p.L458Q|ATP2B3_ENST00000263519.4_Missense_Mutation_p.L458Q			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	458					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGCGCCACCTGGATGCCTGC	0.587000													18	30					0	0	0.006122	0	0
C12orf57	113246	broad.mit.edu	37	12	7053660	7053660	+	Translation_Start_Site	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:7053660A>T	ENST00000540506.2	+	0	170				C12orf57_ENST00000229281.5_Missense_Mutation_p.Q25L|C12orf57_ENST00000537087.1_Missense_Mutation_p.Q25L|C12orf57_ENST00000542222.1_3'UTR|U47924.31_ENST00000607421.1_RNA|C12orf57_ENST00000544681.1_Missense_Mutation_p.Q25L			Q99622	C10_HUMAN	chromosome 12 open reading frame 57											kidney(1)|large_intestine(1)	2						GAGGTGATCCAGGCGTTCTCC	0.662000											OREG0021642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	13					0	0	0.001984	0	0
MSH4	4438	broad.mit.edu	37	1	76280794	76280794	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:76280794G>T	ENST00000263187.3	+	5	892	c.788G>T	c.(787-789)aGc>aTc	p.S263I		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	263					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GCAGAATTCAGCACTGTCCTA	0.303000								Mismatch excision repair (MMR)					14	75					0.000422831	0.000504859	0.004007	1	0
IRF4	3662	broad.mit.edu	37	6	397170	397170	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:397170G>T	ENST00000380956.4	+	5	681	c.555G>T	c.(553-555)caG>caT	p.Q185H	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	185					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		TCCCGGATCAGCCACACCCGG	0.567000			T	IGH@	MM								43	84					1.22674e-20	2.69501e-20	0.008740	1	0
OR2W3	343171	broad.mit.edu	37	1	248059039	248059039	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:248059039C>G	ENST00000537741.1	+	3	408	c.151C>G	c.(151-153)Ctg>Gtg	p.L51V	OR2W3_ENST00000360358.3_Missense_Mutation_p.L51V			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGTGTCCCGGCTGGACCCCCA	0.592000													8	112					0	0	0.004482	0	0
SSPO	23145	broad.mit.edu	37	7	149516601	149516601	+	RNA	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:149516601C>A	ENST00000378016.2	+	0	12004							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCGAGCCTGCCCAGGTGAGGC	0.706000													3	8					6.4e-05	8.07202e-05	0.004672	1	0
SPDL1	54908	broad.mit.edu	37	5	169015554	169015554	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:169015554G>A	ENST00000265295.4	+	2	413	c.134G>A	c.(133-135)cGt>cAt	p.R45H	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		GATAAATGTCGTAATGAAATG	0.393000													18	66					0	0	0.006122	0	0
CNTN6	27255	broad.mit.edu	37	3	1269516	1269516	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:1269516G>T	ENST00000446702.2	+	4	824	c.197G>T	c.(196-198)gGc>gTc	p.G66V	CNTN6_ENST00000539053.1_5'UTR|CNTN6_ENST00000350110.2_Missense_Mutation_p.G66V			Q9UQ52	CNTN6_HUMAN	contactin 6	66	Ig-like C2-type 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAGCAAAATGGCACAGACATT	0.363000													21	91					2.89027e-11	5.15265e-11	0.002299	1	0
DLST	1743	broad.mit.edu	37	14	75367865	75367865	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:75367865A>G	ENST00000334220.4	+	14	1217	c.1156A>G	c.(1156-1158)Atc>Gtc	p.I386V	DLST_ENST00000334212.6_Missense_Mutation_p.I300V	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	386					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		AACACCCATTATCAACCCCCC	0.507000													17	59					0	0	0.004990	0	0
PPP1R26	9858	broad.mit.edu	37	9	138379122	138379122	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:138379122G>T	ENST00000356818.2	+	4	3315	c.2766G>T	c.(2764-2766)caG>caT	p.Q922H	PPP1R26_ENST00000605660.1_Missense_Mutation_p.Q922H|PPP1R26_ENST00000401470.3_Missense_Mutation_p.Q922H|PPP1R26_ENST00000605286.1_Missense_Mutation_p.Q922H|PPP1R26_ENST00000604351.1_Missense_Mutation_p.Q922H|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	922						nucleolus	protein binding										TGTTCAGCCAGGGCGGGAAGG	0.701000													10	66					1.08611e-07	1.60893e-07	0.000978	1	0
LAMA2	3908	broad.mit.edu	37	6	129786409	129786409	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:129786409C>A	ENST00000421865.2	+	51	7324	c.7275C>A	c.(7273-7275)ttC>ttA	p.F2425L		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2425	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGAAATCATTCACTCTGTCAA	0.393000													10	62					4.68919e-08	7.14433e-08	0.008291	1	0
ZNF638	27332	broad.mit.edu	37	2	71654172	71654172	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:71654172C>T	ENST00000409544.1	+	24	5803	c.5173C>T	c.(5173-5175)Cag>Tag	p.Q1725*	ZNF638_ENST00000264447.4_Nonsense_Mutation_p.Q1725*|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Nonsense_Mutation_p.Q665*	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1725					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CATTTCTTCTCAGGTGCCCGA	0.388000													36	144					0	0	0.004289	0	0
KIAA0100	9703	broad.mit.edu	37	17	26965113	26965113	+	Splice_Site	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:26965113C>G	ENST00000528896.2	-	14	1587		c.e14-1		KIAA0100_ENST00000389003.3_Splice_Site|KIAA0100_ENST00000544884.1_Splice_Site	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TATAGCTACCCTAGAGAAGAA	0.493000													19	24					0	0	0.001882	0	0
PDE2A	5138	broad.mit.edu	37	11	72290637	72290637	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:72290637G>T	ENST00000334456.5	-	26	2442	c.2197C>A	c.(2197-2199)Cag>Aag	p.Q733K	PDE2A_ENST00000444035.2_Missense_Mutation_p.Q724K|PDE2A_ENST00000418754.2_Missense_Mutation_p.Q618K|PDE2A_ENST00000376450.3_Missense_Mutation_p.Q477K|PDE2A_ENST00000544570.1_Missense_Mutation_p.Q726K|PDE2A_ENST00000540345.1_Missense_Mutation_p.Q724K	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	733	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GCGATGGCCTGAGCAAAGTGG	0.622000													6	22					2.0095e-06	2.78777e-06	0.001984	1	0
ZFPM2	23414	broad.mit.edu	37	8	106814157	106814157	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:106814157C>T	ENST00000407775.2	+	8	2097	c.1847C>T	c.(1846-1848)cCt>cTt	p.P616L	RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P484L|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P484L|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P347L	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	616					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCTGCTGATCCTGAGAATCCA	0.453000													12	84					0	0	0.001368	0	0
RAB5A	5868	broad.mit.edu	37	3	20019888	20019888	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:20019888G>T	ENST00000273047.4	+	5	1061	c.525G>T	c.(523-525)atG>atT	p.M175I	RAB5A_ENST00000422242.1_Missense_Mutation_p.M161I	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	175					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity			lung(1)|urinary_tract(1)	2						AAATATTCATGGCAATAGGTA	0.299000													102	80					1.14904e-54	2.68801e-54	0.003610	1	0
LAMA1	284217	broad.mit.edu	37	18	7011391	7011391	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:7011391G>C	ENST00000389658.3	-	25	3688	c.3595C>G	c.(3595-3597)Ccc>Gcc	p.P1199A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1199	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGAAGTCGGGGGCCTGGTAG	0.607000													3	11					0	0	0.004672	0	0
LRP2	4036	broad.mit.edu	37	2	170012785	170012785	+	Splice_Site	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:170012785C>A	ENST00000263816.3	-	65	12435	c.12151_splice	c.e65+1	p.E4050_splice		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4050					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCATCATACCCTCAGCTGCAC	0.433000													18	94					0.000958276	0.00112003	0.007413	1	0
PDGFRA	5156	broad.mit.edu	37	4	55138667	55138667	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:55138667G>T	ENST00000257290.5	+	9	1675	c.1344G>T	c.(1342-1344)atG>atT	p.M448I	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	448	Ig-like C2-type 5.				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)	TTGAGTGGATGATATGCAAAG	0.438000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			24	54					1.96895e-08	3.05996e-08	0.002780	1	0
ABAT	18	broad.mit.edu	37	16	8870307	8870307	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:8870307A>T	ENST00000396600.2	+	14	2167	c.1229A>T	c.(1228-1230)cAt>cTt	p.H410L	ABAT_ENST00000425191.2_Missense_Mutation_p.H410L|ABAT_ENST00000268251.8_Missense_Mutation_p.H410L|ABAT_ENST00000569156.1_Missense_Mutation_p.H410L|ABAT_ENST00000567812.1_Missense_Mutation_p.H425L	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	410					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	AATGCAGCCCATGCCGGGAAG	0.642000													4	19					0	0	0.009096	0	0
STAT4	6775	broad.mit.edu	37	2	192011352	192011352	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:192011352C>A	ENST00000392320.2	-	3	574	c.260G>T	c.(259-261)aGg>aTg	p.R87M	STAT4_ENST00000358470.4_Missense_Mutation_p.R87M|STAT4_ENST00000409995.1_Missense_Mutation_p.R87M	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	87					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAGGACCTTCCTAATTCTTTT	0.289000													9	28					0.00621372	0.00689376	0.006214	1	0
KIAA0947	23379	broad.mit.edu	37	5	5463336	5463336	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:5463336G>T	ENST00000296564.7	+	13	4111	c.3889G>T	c.(3889-3891)Gag>Tag	p.E1297*		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1297										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CATGACCACTGAGAATTTAAA	0.418000													12	19					6.40141e-05	8.07202e-05	0.000978	1	0
OR2AK2	391191	broad.mit.edu	37	1	248129044	248129044	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:248129044C>T	ENST00000366480.3	+	1	510	c.411C>T	c.(409-411)cgC>cgT	p.R137R	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTTATGATCGCTATGTAGCTA	0.438000													12	317					0	0	0.001368	0	0
PRKCB	5579	broad.mit.edu	37	16	24196856	24196856	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:24196856A>G	ENST00000303531.7	+	15	1842	c.1690A>G	c.(1690-1692)Atg>Gtg	p.M564V	PRKCB_ENST00000321728.7_Missense_Mutation_p.M564V	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	564	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCCCAAGTCTATGTCCAAGGA	0.517000													10	44					0	0	0.000978	0	0
MIB1	57534	broad.mit.edu	37	18	19399507	19399507	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:19399507G>C	ENST00000261537.6	+	12	1993	c.1729G>C	c.(1729-1731)Gat>Cat	p.D577H	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	577					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GAAACGTGATGATATCCTAGC	0.368000													26	142					0	0	0.005443	0	0
HEPHL1	341208	broad.mit.edu	37	11	93834418	93834418	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:93834418C>G	ENST00000315765.9	+	14	2500	c.2492C>G	c.(2491-2493)gCc>gGc	p.A831G		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	831	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AAGAACAAAGCCAGTAGGCCC	0.478000													13	94					0	0	0.001855	0	0
ZNF331	55422	broad.mit.edu	37	19	54080593	54080593	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:54080593A>G	ENST00000253144.9	+	7	2112	c.779A>G	c.(778-780)cAg>cGg	p.Q260R	ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000513999.1_Missense_Mutation_p.Q260R|ZNF331_ENST00000511154.1_Missense_Mutation_p.Q260R|ZNF331_ENST00000512387.1_Missense_Mutation_p.Q260R|ZNF331_ENST00000411977.2_Missense_Mutation_p.Q260R|ZNF331_ENST00000511593.2_Missense_Mutation_p.Q260R|ZNF331_ENST00000449416.1_Missense_Mutation_p.Q260R	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AAACTTATTCAGCACAAGAGA	0.443000			T	?	follicular thyroid adenoma								3	104					0	0	0.004672	0	0
MASP1	5648	broad.mit.edu	37	3	186953828	186953828	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:186953828G>T	ENST00000296280.6	-	11	2056	c.1831C>A	c.(1831-1833)Cgg>Agg	p.R611R	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000392472.2_Silent_p.R498R	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	595	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GACAAGGTCCGTGTGCCACTG	0.587000													15	49					0.000219431	0.000266514	0.002450	1	0
C6orf118	168090	broad.mit.edu	37	6	165715486	165715486	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:165715486G>T	ENST00000543069.1	-	2	594	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	C6orf118_ENST00000230301.8_Missense_Mutation_p.L109M			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	109										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		AAGTGGGCCAGGGCCTCCTTC	0.667000													16	78					4.7546e-09	7.62605e-09	0.004007	1	0
SCML2	10389	broad.mit.edu	37	X	18276194	18276194	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:18276194G>C	ENST00000251900.4	-	10	1402	c.1243C>G	c.(1243-1245)Cca>Gca	p.P415A	SCML2_ENST00000398048.3_Missense_Mutation_p.P151A	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	415					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CGATTATCTGGCTTCAGGTAT	0.512000													20	40					0	0	0.001882	0	0
ITFG3	83986	broad.mit.edu	37	16	310023	310023	+	Silent	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:310023G>C	ENST00000399932.3	+	5	892	c.441G>C	c.(439-441)acG>acC	p.T147T	ITFG3_ENST00000442458.2_Silent_p.T147T|ITFG3_ENST00000450082.2_Silent_p.T147T|ITFG3_ENST00000301678.3_Silent_p.T147T|ITFG3_ENST00000301679.2_Silent_p.T147T|ITFG3_ENST00000600536.1_Silent_p.T147T			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	147						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				ACGGCAGCACGCTCTGGGAGA	0.637000													5	34					0	0	0.001168	0	0
C6	729	broad.mit.edu	37	5	41160261	41160261	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:41160261G>T	ENST00000263413.3	-	11	1931	c.1667C>A	c.(1666-1668)tCt>tAt	p.S556Y	C6_ENST00000337836.5_Missense_Mutation_p.S556Y	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	556					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATAATCTGGAGACTGTTTCTC	0.423000													14	129					1.05317e-09	1.7602e-09	0.002450	1	0
PDCD11	22984	broad.mit.edu	37	10	105203041	105203041	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:105203041A>T	ENST00000369797.3	+	33	5169	c.5075A>T	c.(5074-5076)aAa>aTa	p.K1692I		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1692					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GAGCCTCTCAAAGTCTTTCTC	0.552000													9	47					0	0	0.000978	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673080	141673080	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:141673080G>T	ENST00000547270.1	-	1	493	c.410C>A	c.(409-411)tCc>tAc	p.S137Y		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	137					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GATCTTCCTGGAGACCCAGCT	0.522000													8	32					0.00307968	0.00346883	0.003080	1	0
SYCP1	6847	broad.mit.edu	37	1	115398151	115398151	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:115398151G>T	ENST00000369522.3	+	2	306	c.66G>T	c.(64-66)gcG>gcT	p.A22A	SYCP1_ENST00000369518.1_Silent_p.A22A	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	22	Asp/Glu-rich (acidic).				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGTGTCTGCGGTGAAACCTC	0.438000													9	51					0.00448238	0.00501238	0.004482	1	0
NRXN1	9378	broad.mit.edu	37	2	50149313	50149313	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:50149313C>A	ENST00000404971.1	-	24	5752	c.4413G>T	c.(4411-4413)acG>acT	p.T1471T	NRXN1_ENST00000401710.1_Silent_p.T419T|NRXN1_ENST00000401669.2_Silent_p.T1431T|NRXN1_ENST00000342183.5_Silent_p.T366T|NRXN1_ENST00000406316.2_Silent_p.T1401T|NRXN1_ENST00000406859.3_Silent_p.T1401T|NRXN1_ENST00000402717.3_Silent_p.T1423T|NRXN1_ENST00000405472.3_Silent_p.T1423T	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1401					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.T366T(2)|p.T1401T(1)|p.T1472T(1)|p.T1471T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGACCATACCCGTGGTGCTGC	0.552000													4	34					0.00909568	0.00995582	0.009096	1	0
TRIM56	81844	broad.mit.edu	37	7	100732402	100732402	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:100732402G>T	ENST00000306085.6	+	3	2106	c.1809G>T	c.(1807-1809)gtG>gtT	p.V603V		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	603					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GGGACCGCGTGGCTGTCAGCG	0.692000													12	77					4.3838e-07	6.3367e-07	0.001855	1	0
XYLT1	64131	broad.mit.edu	37	16	17353221	17353221	+	Silent	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:17353221A>T	ENST00000261381.6	-	3	621	c.537T>A	c.(535-537)ccT>ccA	p.P179P		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	179					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCGCCAACTCAGGCTGGTGCT	0.502000													31	129					0	0	0.003271	0	0
KLC4	89953	broad.mit.edu	37	6	43030663	43030663	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:43030663G>T	ENST00000394056.2	+	4	762	c.267G>T	c.(265-267)ctG>ctT	p.L89L	KLC4_ENST00000259708.3_Silent_p.L107L|KLC4_ENST00000347162.5_Silent_p.L89L|KLC4_ENST00000479388.1_Silent_p.L89L|KLC4_ENST00000458460.2_Silent_p.L89L|KLC4_ENST00000394058.1_Silent_p.L89L|KLC4_ENST00000453940.2_Intron			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	89						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			AGGTGATGCTGGCTCTAGCCA	0.617000													7	23					1.06961e-07	1.59363e-07	0.003080	1	0
GOLGB1	2804	broad.mit.edu	37	3	121413956	121413956	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:121413956T>A	ENST00000393667.3	-	13	5524	c.5414A>T	c.(5413-5415)cAa>cTa	p.Q1805L	GOLGB1_ENST00000340645.5_Missense_Mutation_p.Q1800L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1800					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CAGAGAGTCTTGCTCTTCAGT	0.453000													53	202					0	0	0.003610	0	0
TIGIT	201633	broad.mit.edu	37	3	114014612	114014612	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:114014612C>A	ENST00000481065.1	+	3	3098	c.483C>A	c.(481-483)acC>acA	p.T161T	TIGIT_ENST00000486257.1_Silent_p.T94T|TIGIT_ENST00000383671.3_Silent_p.T94T			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	94					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						TGGGCCTCACCCTCCAGTCGC	0.577000													18	44					2.35188e-11	4.22685e-11	0.006122	1	0
SENP5	205564	broad.mit.edu	37	3	196627254	196627254	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:196627254G>T	ENST00000323460.5	+	5	2026	c.1777G>T	c.(1777-1779)Gag>Tag	p.E593*	SENP5_ENST00000419026.1_Nonsense_Mutation_p.E83*|SENP5_ENST00000489744.1_3'UTR|SENP5_ENST00000445299.2_Nonsense_Mutation_p.E593*	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	593	Protease.				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TATGTATGGTGAGCTGATAAT	0.323000													9	57					2.74318e-10	4.72217e-10	0.006214	1	0
MAGEL2	54551	broad.mit.edu	37	15	23890254	23890254	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:23890254G>T	ENST00000532292.1	-	1	921	c.827C>A	c.(826-828)cCa>cAa	p.P276Q		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGAGCGGCGTGGCGGCTCGAC	0.647000													7	44					0.000673444	0.000787716	0.008291	1	0
NLRP14	338323	broad.mit.edu	37	11	7064894	7064894	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:7064894G>A	ENST00000299481.4	+	4	1983	c.1637G>A	c.(1636-1638)aGg>aAg	p.R546K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	546					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CAACTGGAGAGGACTTTTAAC	0.358000													16	66					0	0	0.004007	0	0
HOXD10	3236	broad.mit.edu	37	2	176982243	176982243	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:176982243G>C	ENST00000249501.4	+	1	937	c.682G>C	c.(682-684)Gag>Cag	p.E228Q	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	228						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CCTTCCCGAAGAGAGGAGCTG	0.632000													12	36					0	0	0.000978	0	0
CRYGA	1418	broad.mit.edu	37	2	209028141	209028141	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:209028141C>A	ENST00000304502.4	-	2	58	c.39G>T	c.(37-39)caG>caT	p.Q13H		NM_014617.3	NP_055432.2			crystallin, gamma A											endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		AGCAGCGACCCTGAAAGTCTC	0.542000													11	37					1.08611e-07	1.60893e-07	0.000978	1	0
SH3KBP1	30011	broad.mit.edu	37	X	19555896	19555896	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:19555896C>G	ENST00000397821.3	-	17	2185	c.1895G>C	c.(1894-1896)cGa>cCa	p.R632P	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.R595P|SH3KBP1_ENST00000541422.1_Missense_Mutation_p.R371P|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.R394P	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	632					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TTTAATCTCTCGTCTGAAAAG	0.428000													14	21					0	0	0.001855	0	0
TPSG1	25823	broad.mit.edu	37	16	1272676	1272676	+	Missense_Mutation	SNP	C	C	A	rs137977482	byFrequency	TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:1272676C>A	ENST00000234798.4	-	4	491	c.487G>T	c.(487-489)Ggc>Tgc	p.G163C		NM_012467.3	NP_036599.3	Q9NRR2	TRYG1_HUMAN	tryptase gamma 1	163	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				TAGCCCCAGCCGGTCACCCAG	0.677000													23	89					1.1804e-14	2.31746e-14	0.003954	1	0
SLC26A5	375611	broad.mit.edu	37	7	103018945	103018945	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:103018945T>C	ENST00000306312.3	-	17	1994	c.1733A>G	c.(1732-1734)tAc>tGc	p.Y578C	SLC26A5_ENST00000393729.1_Missense_Mutation_p.Y541C|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393730.1_Missense_Mutation_p.Y546C|SLC26A5_ENST00000354356.4_Missense_Mutation_p.Y11C|SLC26A5_ENST00000393727.1_Missense_Mutation_p.Y578C|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393723.1_Missense_Mutation_p.Y546C|SLC26A5_ENST00000432958.2_Missense_Mutation_p.Y546C|SLC26A5_ENST00000339444.6_Missense_Mutation_p.Y578C	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	578	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TTCCTTAGCGTACTTCCGCAT	0.453000													9	108					0	0	0.006214	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428335	128428335	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:128428335A>C	ENST00000465342.2	+	2	1381	c.224A>C	c.(223-225)tAc>tCc	p.Y75S	CASC8_ENST00000502082.1_RNA|CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.Y75S|CASC8_ENST00000523825.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	75						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						GGGATGGCGTACTGTGGGCCT	0.657000													3	7					0	0	0.004672	0	0
PHF2	5253	broad.mit.edu	37	9	96436116	96436116	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:96436116G>T	ENST00000359246.4	+	18	2965	c.2598G>T	c.(2596-2598)ctG>ctT	p.L866L	PHF2_ENST00000375376.4_Silent_p.L97L	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	866					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AGGACCACCTGGATGCCTGCT	0.592000													4	31					1.23904e-05	1.63414e-05	0.000602	1	0
TEKT1	83659	broad.mit.edu	37	17	6733603	6733603	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:6733603C>G	ENST00000338694.2	-	2	222	c.93G>C	c.(91-93)agG>agC	p.R31S	TEKT1_ENST00000535086.1_5'UTR	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	31					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CTGATCGGGACCTTTGAGCGT	0.468000													32	35					0	0	0.002445	0	0
MPP2	4355	broad.mit.edu	37	17	41955335	41955335	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:41955335C>A	ENST00000269095.4	-	13	1803	c.1499G>T	c.(1498-1500)cGg>cTg	p.R500L	MPP2_ENST00000518766.1_Missense_Mutation_p.R545L|MPP2_ENST00000377184.3_Missense_Mutation_p.R517L|MPP2_ENST00000461854.1_Missense_Mutation_p.R524L|MPP2_ENST00000520305.1_Missense_Mutation_p.R361L|MPP2_ENST00000536246.1_Missense_Mutation_p.R489L|MPP2_ENST00000523501.1_Missense_Mutation_p.R489L	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	524	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	p.R500Q(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CTCCACTGTCCGTCTCAGGTC	0.632000													14	13					1.3612e-06	1.91755e-06	0.003163	1	0
TEX15	56154	broad.mit.edu	37	8	30704668	30704668	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:30704668G>T	ENST00000256246.2	-	1	1940	c.1866C>A	c.(1864-1866)taC>taA	p.Y622*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	622										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTTTAAACTGGTATATCTGGT	0.358000													26	92					1.1804e-14	2.31746e-14	0.003954	1	0
PLEKHM1	9842	broad.mit.edu	37	17	43531071	43531071	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:43531071C>A	ENST00000430334.3	-	7	2280	c.2147G>T	c.(2146-2148)aGg>aTg	p.R716M	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.R627M|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	716	PH 2.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CTCATTGTTCCTGATGCGGAA	0.522000													13	25					7.45023e-12	1.35945e-11	0.010504	1	0
TNR	7143	broad.mit.edu	37	1	175323536	175323536	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:175323536A>C	ENST00000367674.1	-	18	4081	c.3373T>G	c.(3373-3375)Ttc>Gtc	p.F1125V	TNR_ENST00000263525.2_Missense_Mutation_p.F1125V	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1125	Fibronectin type-III 9.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCTGTGGTGAAAGCGGTGGAG	0.577000													8	40					0	0	0.003080	0	0
ZFP42	132625	broad.mit.edu	37	4	188924071	188924071	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:188924071A>T	ENST00000326866.4	+	4	518	c.110A>T	c.(109-111)cAg>cTg	p.Q37L	ZFP42_ENST00000509524.1_Missense_Mutation_p.Q37L	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	37					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CAAGACCTGCAGGCGGAAATA	0.572000													8	53					0	0	0.003080	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072106	17072106	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr22:17072106C>A	ENST00000359963.3	-	1	1594	c.1335G>T	c.(1333-1335)ctG>ctT	p.L445L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	445					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GAAGATACTTCAGGGCCCAGG	0.507000													19	57					8.28177e-16	1.69014e-15	0.007413	1	0
FAF1	11124	broad.mit.edu	37	1	51323665	51323665	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:51323665C>A	ENST00000396153.2	-	2	501	c.50G>T	c.(49-51)tGt>tTt	p.C17F	FAF1_ENST00000371778.4_Missense_Mutation_p.C17F	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	17					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(5)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		AATGCCAGTACATGCCTGGAA	0.279000													11	58					3.86212e-05	4.92206e-05	0.008291	1	0
ZNF391	346157	broad.mit.edu	37	6	27368846	27368846	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:27368846C>T	ENST00000244576.4	+	3	1242	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						CTTCGGTGACCGTTCAACCAT	0.423000													10	51					0	0	0.008291	0	0
PXDNL	137902	broad.mit.edu	37	8	52387612	52387612	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:52387612T>A	ENST00000356297.4	-	7	714	c.614A>T	c.(613-615)cAg>cTg	p.Q205L	PXDNL_ENST00000543296.1_Missense_Mutation_p.Q205L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	205	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGCCGCAGCCTGGGTGTGGCC	0.527000													5	11					0	0	0.000602	0	0
PPFIA4	8497	broad.mit.edu	37	1	203024569	203024569	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:203024569G>A	ENST00000367240.2	+	15	2303	c.1776G>A	c.(1774-1776)caG>caA	p.Q592Q	PPFIA4_ENST00000272198.6_Silent_p.Q107Q|PPFIA4_ENST00000599966.1_Silent_p.Q107Q|PPFIA4_ENST00000414050.2_Silent_p.Q320Q|PPFIA4_ENST00000295706.4_Silent_p.Q107Q|PPFIA4_ENST00000447715.2_Silent_p.Q591Q			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	107	SAM 3.				cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GGATGATTCAGGAAGAGAAGG	0.612000													17	37					0	0	0.006122	0	0
KRTAP17-1	83902	broad.mit.edu	37	17	39471645	39471645	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:39471645G>T	ENST00000334202.3	-	1	302	c.258C>A	c.(256-258)tgC>tgA	p.C86*		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	86						intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACCCGGAGCCgcagcaactgg	0.627000													8	15					1.76689e-08	2.75422e-08	0.006214	1	0
MASP1	5648	broad.mit.edu	37	3	186953901	186953901	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:186953901C>A	ENST00000296280.6	-	11	1983	c.1758G>T	c.(1756-1758)atG>atT	p.M586I	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000392472.2_Missense_Mutation_p.M473I	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	582	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCAGGCCCAGCATGTGGGGGG	0.612000													7	84					3.09899e-07	4.51317e-07	0.004482	1	0
FBXO24	26261	broad.mit.edu	37	7	100197671	100197671	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:100197671G>T	ENST00000241071.6	+	9	1546	c.1224G>T	c.(1222-1224)cgG>cgT	p.R408R	PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000427939.2_Silent_p.R446R|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Silent_p.R396R|FBXO24_ENST00000360609.2_3'UTR	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	408						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCTGCAGCGGCCCATCACCC	0.667000													6	15					1.06961e-07	1.59363e-07	0.003080	1	0
FSIP2	401024	broad.mit.edu	37	2	186671708	186671708	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:186671708C>A	ENST00000343098.5	+	17	17942	c.17942C>A	c.(17941-17943)cCt>cAt	p.P5981H	FSIP2_ENST00000424728.1_Missense_Mutation_p.P5892H	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAATGCCACCTATGCATAAA	0.343000													17	76					2.23348e-06	3.09022e-06	0.004007	1	0
RALB	5899	broad.mit.edu	37	2	121043513	121043513	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:121043513G>T	ENST00000272519.5	+	3	448	c.178G>T	c.(178-180)Gaa>Taa	p.E60*	RALB_ENST00000470417.1_Intron|RALB_ENST00000404963.3_Nonsense_Mutation_p.E81*|RALB_ENST00000420510.1_Nonsense_Mutation_p.E60*|RALB_ENST00000474855.2_Nonsense_Mutation_p.E82*	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	60					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				TCTTGATGGGGAAGAAGTTCA	0.413000													21	75					1.40151e-16	2.90607e-16	0.010504	1	0
KMT2D	8085	broad.mit.edu	37	12	49420194	49420194	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:49420194G>A	ENST00000301067.7	-	48	15554	c.15555C>T	c.(15553-15555)ttC>ttT	p.F5185F		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CGATGGCGTGGAACACAAGGC	0.602000													5	23					0	0	0.000602	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473049	53473049	+	RNA	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:53473049G>A	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TCTCCAGTATGAATGACCTTA	0.358000													19	38					0	0	0.006122	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411363	105411363	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:105411363C>T	ENST00000333244.5	-	7	10544	c.10425G>A	c.(10423-10425)atG>atA	p.M3475I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3475						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGAACTTGGGCATTTTGAACT	0.632000													87	193					0	0	0.003610	0	0
HFM1	164045	broad.mit.edu	37	1	91779574	91779574	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:91779574C>A	ENST00000370425.3	-	29	3282	c.3184G>T	c.(3184-3186)Gct>Tct	p.A1062S	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.A294S|HFM1_ENST00000370424.3_Missense_Mutation_p.A741S	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1062	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTTTTCACAGCAATCTTTTTA	0.279000													13	117					4.75885e-15	9.51157e-15	0.004990	1	0
NLRP3	114548	broad.mit.edu	37	1	247582299	247582299	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:247582299G>A	ENST00000366497.2	+	2	983	c.203G>A	c.(202-204)tGg>tAg	p.W68*	NLRP3_ENST00000336119.3_Nonsense_Mutation_p.W68*|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Nonsense_Mutation_p.W68*|NLRP3_ENST00000348069.2_Nonsense_Mutation_p.W68*|NLRP3_ENST00000366496.2_Nonsense_Mutation_p.W68*|NLRP3_ENST00000391827.2_Nonsense_Mutation_p.W68*	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	68	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAGAAGGCGTGGGCCATGGCC	0.547000													14	14					0	0	0.002450	0	0
TNFSF18	8995	broad.mit.edu	37	1	173010546	173010546	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:173010546C>A	ENST00000404377.3	-	3	561	c.561G>T	c.(559-561)tgG>tgT	p.W187C	RP1-15D23.2_ENST00000432694.1_RNA|TNFSF18_ENST00000239468.2_Missense_Mutation_p.W165C	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	187					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						AAATGATACCCCAGTATGTAT	0.408000													24	75					3.08376e-08	4.75439e-08	0.003330	1	0
CCDC38	120935	broad.mit.edu	37	12	96282278	96282278	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:96282278G>T	ENST00000344280.3	-	10	1435	c.878C>A	c.(877-879)cCa>cAa	p.P293Q	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	293										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTTCTGCTTGGCTTTCCTGT	0.438000													37	175					4.00102e-26	9.00665e-26	0.006230	1	0
LRRC4B	94030	broad.mit.edu	37	19	51051856	51051856	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:51051856G>T	ENST00000599957.1	-	2	437	c.240C>A	c.(238-240)gtC>gtA	p.V80V	LRRC4B_ENST00000389201.3_Silent_p.V80V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	80	LRRNT.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGCTGGCTGGGACCTCGGCCA	0.701000													3	11					2.56e-06	3.52939e-06	0.009096	1	0
PTPN22	26191	broad.mit.edu	37	1	114394674	114394674	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:114394674T>A	ENST00000359785.5	-	10	938	c.803A>T	c.(802-804)cAg>cTg	p.Q268L	PTPN22_ENST00000538253.1_Missense_Mutation_p.Q24L|PTPN22_ENST00000528414.1_Intron|PTPN22_ENST00000525799.1_Missense_Mutation_p.Q141L|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.Q268L	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	268	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAAGGCCTCTGTGTCCGCAT	0.368000													10	29					0	0	0.008291	0	0
MPP1	4354	broad.mit.edu	37	X	154020488	154020488	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:154020488C>A	ENST00000413259.3	-	3	477	c.85G>T	c.(85-87)Gcc>Tcc	p.A29S	MPP1_ENST00000393531.1_Missense_Mutation_p.A59S|MPP1_ENST00000462825.1_Intron|MPP1_ENST00000369534.3_Missense_Mutation_p.A59S	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	59					regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGACCTGGGCAGGGCTACCT	0.542000													20	27					5.35267e-07	7.70129e-07	0.007413	1	0
CCM2L	140706	broad.mit.edu	37	20	30602788	30602788	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:30602788C>A	ENST00000300415.8	+	2	125	c.112C>A	c.(112-114)Ccc>Acc	p.P38T	CCM2L_ENST00000262659.8_Missense_Mutation_p.P38T					cerebral cavernous malformation 2-like																		GAGCCGCCGGCCCCTGCACTC	0.637000													17	84					3.41278e-10	5.83597e-10	0.004990	1	0
SNX29	92017	broad.mit.edu	37	16	12618639	12618639	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:12618639C>T	ENST00000566228.1	+	20	2328	c.2259C>T	c.(2257-2259)gtC>gtT	p.V753V	SNX29_ENST00000306030.3_Silent_p.V368V|SNX29_ENST00000323433.4_Silent_p.V368V	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	368					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TCCAGATGGTCCCCGAGTTCG	0.557000													12	45					0	0	0.001855	0	0
RBP3	5949	broad.mit.edu	37	10	48388625	48388625	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:48388625C>A	ENST00000224600.4	-	1	2366	c.2253G>T	c.(2251-2253)atG>atT	p.M751I		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	751	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCAGTTCAGCCATGGCGTCAA	0.622000													6	24					0.00116845	0.00134841	0.001168	1	0
CRMP1	1400	broad.mit.edu	37	4	5844884	5844884	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:5844884T>A	ENST00000324989.7	-	7	1056	c.968A>T	c.(967-969)cAa>cTa	p.Q323L	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Missense_Mutation_p.Q209L|CRMP1_ENST00000512574.1_Missense_Mutation_p.Q207L	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	209					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GATCCGCTTTTGTTCCTACAA	0.552000													21	45					0	0	0.003330	0	0
COL16A1	1307	broad.mit.edu	37	1	32162598	32162598	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:32162598C>A	ENST00000373672.3	-	8	1346	c.830G>T	c.(829-831)cGc>cTc	p.R277L	COL16A1_ENST00000373668.3_Missense_Mutation_p.R277L|COL16A1_ENST00000271069.6_Missense_Mutation_p.R277L	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	277	Nonhelical region 10 (NC10).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCAGAAGCAGCGGGTGTAGAC	0.602000													15	72					2.23348e-06	3.09022e-06	0.004007	1	0
CES5A	221223	broad.mit.edu	37	16	55903590	55903590	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:55903590G>T	ENST00000521992.1	-	5	716	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	CES5A_ENST00000290567.9_Missense_Mutation_p.L162M|CES5A_ENST00000319165.9_Missense_Mutation_p.L162M|CES5A_ENST00000520435.1_Missense_Mutation_p.L132M|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000518005.1_Missense_Mutation_p.L56M	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	162						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TAGGCAGCCAGGGCGGACCCA	0.557000													7	21					2.7689e-08	4.28599e-08	0.001984	1	0
FAM98C	147965	broad.mit.edu	37	19	38895995	38895995	+	Silent	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:38895995G>C	ENST00000252530.5	+	5	586	c.567G>C	c.(565-567)ctG>ctC	p.L189L	FAM98C_ENST00000343358.7_Intron|FAM98C_ENST00000588262.1_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	189										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCTCAGAGCTGCAGCCTTCTC	0.597000													9	37					0	0	0.006214	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183373	39183373	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:39183373G>C	ENST00000361883.5	-	1	81	c.35C>G	c.(34-36)cCc>cGc	p.P12R		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	12	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GGAGAAGCTGGGATATCCACA	0.567000													9	18					0	0	0.000978	0	0
NUP205	23165	broad.mit.edu	37	7	135303237	135303237	+	Silent	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:135303237G>C	ENST00000285968.6	+	28	3875	c.3849G>C	c.(3847-3849)ctG>ctC	p.L1283L		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1283					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GTCATGCTCTGGAGTCGTGGA	0.423000													39	140					0	0	0.006230	0	0
MCM4	4173	broad.mit.edu	37	8	48883356	48883356	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:48883356G>T	ENST00000262105.2	+	11	1929	c.1720G>T	c.(1720-1722)Gat>Tat	p.D574Y	MCM4_ENST00000523944.1_Missense_Mutation_p.D574Y	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	574	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|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	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CTGCTGTATCGATGAGTTCGA	0.502000													9	42					1.12685e-05	1.49636e-05	0.004482	1	0
IGHV1-24	28467	broad.mit.edu	37	14	106733432	106733432	+	RNA	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:106733432G>T	ENST00000390610.2	-	0	122																											GTACCAGCTGGACCTGGGCGT	0.567000													49	80					1.35964e-18	2.88087e-18	0.003610	1	0
ANKRD17	26057	broad.mit.edu	37	4	74005550	74005550	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:74005550C>G	ENST00000358602.4	-	15	2899	c.2783G>C	c.(2782-2784)cGg>cCg	p.R928P	ANKRD17_ENST00000509867.2_Missense_Mutation_p.R815P|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Intron	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	928	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGCTGTAACCGTGCATAGTC	0.498000													30	70					0	0	0.007291	0	0
NEB	4703	broad.mit.edu	37	2	152472515	152472515	+	Splice_Site	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:152472515C>G	ENST00000427231.2	-	76	11492		c.e76+1		NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000172853.10_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATCCACTTACATCACTAGCA	0.383000													5	19					0	0	0.001168	0	0
PAK2	5062	broad.mit.edu	37	3	196533538	196533538	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:196533538G>T	ENST00000327134.3	+	6	879	c.557G>T	c.(556-558)cGa>cTa	p.R186L		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	186					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		ATTGCCCCGCGACCGGATCAT	0.483000													6	20					8.12818e-05	0.000100935	0.001984	1	0
KRT73	319101	broad.mit.edu	37	12	53012078	53012078	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:53012078C>A	ENST00000305748.3	-	1	265	c.231G>T	c.(229-231)cgG>cgT	p.R77R		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	77	Gly-rich.|Head.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCACTGGCCCGGCCCCGGC	0.637000													13	94					1.5842e-08	2.48946e-08	0.001855	1	0
SEMA3A	10371	broad.mit.edu	37	7	83634826	83634826	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:83634826C>T	ENST00000265362.3	-	11	1503	c.1189G>A	c.(1189-1191)Gat>Aat	p.D397N	SEMA3A_ENST00000436949.1_Missense_Mutation_p.D397N	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	397	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATAACATCATCAGGAAGGTCC	0.333000													7	74					0	0	0.003080	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501038	90501038	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:90501038G>A	ENST00000325643.5	+	4	1702	c.1636G>A	c.(1636-1638)Ggg>Agg	p.G546R		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		TAGGGGCTGTGGGGCATCTTA	0.587000													18	106					0	0	0.004990	0	0
OR51I2	390064	broad.mit.edu	37	11	5474855	5474855	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:5474855T>C	ENST00000341449.2	+	1	218	c.137T>C	c.(136-138)cTg>cCg	p.L46P	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGTGATCCTGCAGGCTGTG	0.582000													10	27					0	0	0.001855	0	0
DGKH	160851	broad.mit.edu	37	13	42783173	42783173	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:42783173A>T	ENST00000379274.2	+	22	2701	c.2272A>T	c.(2272-2274)Agg>Tgg	p.R758W	DGKH_ENST00000536612.1_Missense_Mutation_p.R758W|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Missense_Mutation_p.R649W|DGKH_ENST00000261491.4_Missense_Mutation_p.R894W|DGKH_ENST00000540693.1_Missense_Mutation_p.R894W|DGKH_ENST00000337343.4_Missense_Mutation_p.R894W			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	894					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GGCAGTTTCAAGGGTCATTAA	0.413000													8	49					0	0	0.004482	0	0
CCDC144NL-AS1	440416	broad.mit.edu	37	17	20860022	20860022	+	RNA	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:20860022G>T	ENST00000582583.1	+	0	698				RP11-344E13.3_ENST00000433763.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583481.1_RNA|RP11-344E13.3_ENST00000584433.1_RNA|RP11-344E13.3_ENST00000437829.1_RNA|RP11-344E13.3_ENST00000579168.2_RNA|RP11-344E13.3_ENST00000581958.1_RNA|RP11-344E13.3_ENST00000580056.1_RNA|RP11-344E13.3_ENST00000423473.2_RNA																							AGTCCTCCAAGGTAAATGCTC	0.463000													14	24					1.3612e-06	1.91755e-06	0.003163	1	0
ZNF423	23090	broad.mit.edu	37	16	49672203	49672203	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:49672203G>T	ENST00000561648.1	-	4	913	c.860C>A	c.(859-861)cCg>cAg	p.P287Q	ZNF423_ENST00000567169.1_Missense_Mutation_p.P170Q|ZNF423_ENST00000535559.1_Missense_Mutation_p.P170Q|ZNF423_ENST00000563137.2_Missense_Mutation_p.P227Q|ZNF423_ENST00000562871.1_Missense_Mutation_p.P227Q|ZNF423_ENST00000562520.1_Missense_Mutation_p.P227Q|ZNF423_ENST00000262383.2_Missense_Mutation_p.P287Q	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	287					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGACAGCTGCGGGTGGCGGGT	0.607000													3	26					2.56e-06	3.52939e-06	0.009096	1	0
DSCAML1	57453	broad.mit.edu	37	11	117308780	117308780	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:117308780C>A	ENST00000321322.6	-	25	4444	c.4443G>T	c.(4441-4443)tcG>tcT	p.S1481S	DSCAML1_ENST00000527706.1_Silent_p.S1211S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1421	Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGTTGTCCACCGAGTACTGTA	0.612000													7	14					8.12818e-05	0.000100935	0.001984	1	0
RELN	5649	broad.mit.edu	37	7	103338531	103338531	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:103338531G>T	ENST00000424685.2	-	10	1071	c.912C>A	c.(910-912)tcC>tcA	p.S304S	RELN_ENST00000428762.1_Silent_p.S304S|RELN_ENST00000343529.5_Silent_p.S304S			P78509	RELN_HUMAN	reelin	304					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGCTGACATTGGAAGGGGCTC	0.418000													62	138					4.17052e-40	9.6114e-40	0.003610	1	0
CASP5	838	broad.mit.edu	37	11	104872926	104872926	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:104872926G>T	ENST00000393139.2	-	4	506	c.337C>A	c.(337-339)Cta>Ata	p.L113I	CASP5_ENST00000393141.2_Silent_p.I195I|CASP5_ENST00000444749.2_Silent_p.I124I|CASP5_ENST00000260315.3_Silent_p.I182I|CASP5_ENST00000418434.1_Silent_p.I40I|CASP5_ENST00000531367.1_Silent_p.I40I|CASP5_ENST00000526056.1_Silent_p.I195I			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	146	CARD.				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTATTGGATAGATCTGCAGGA	0.453000													18	71					6.49762e-13	1.21713e-12	0.006122	1	0
DCAF4	26094	broad.mit.edu	37	14	73425486	73425486	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:73425486G>T	ENST00000555042.1	+	14	1508	c.1443G>T	c.(1441-1443)caG>caT	p.Q481H	DCAF4_ENST00000358377.2_Missense_Mutation_p.Q487H|DCAF4_ENST00000353777.3_Missense_Mutation_p.Q317H|DCAF4_ENST00000509153.1_Missense_Mutation_p.Q427H|DCAF4_ENST00000394234.2_Missense_Mutation_p.Q387H	NM_001163508.1	NP_001156980.1	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	487						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						CTGTCGGGCAGGACCTTTACT	0.597000													17	92					1.33834e-09	2.22244e-09	0.007413	1	0
KDM4A	9682	broad.mit.edu	37	1	44160465	44160465	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:44160465A>T	ENST00000372396.3	+	18	2704	c.2570A>T	c.(2569-2571)cAt>cTt	p.H857L		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	857					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						ACTGCCTTCCATGTGAGCTGC	0.537000													9	47					0	0	0.006214	0	0
FAR2	55711	broad.mit.edu	37	12	29486595	29486595	+	Silent	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:29486595T>C	ENST00000182377.4	+	12	1684	c.1416T>C	c.(1414-1416)acT>acC	p.T472T	FAR2_ENST00000536681.2_Silent_p.T472T|FAR2_ENST00000547116.1_Silent_p.T375T	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	472					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TCTTTAATACTGCCCTCTTCC	0.413000													34	173					0	0	0.003755	0	0
SCAF4	57466	broad.mit.edu	37	21	33063258	33063258	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr21:33063258C>A	ENST00000286835.7	-	15	2119	c.1737G>T	c.(1735-1737)tgG>tgT	p.W579C	SCAF4_ENST00000434667.3_Missense_Mutation_p.W564C|SCAF4_ENST00000399804.1_Missense_Mutation_p.W579C	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	579	RRM.					nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGTTTAAGGCCCAGGCAATCT	0.373000													24	27					6.44725e-10	1.08811e-09	0.002299	1	0
DACT1	51339	broad.mit.edu	37	14	59112755	59112755	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:59112755G>T	ENST00000395153.3	+	4	1450	c.1303G>T	c.(1303-1305)Ggg>Tgg	p.G435W	DACT1_ENST00000335867.4_Missense_Mutation_p.G472W|DACT1_ENST00000541264.2_Missense_Mutation_p.G191W|DACT1_ENST00000556859.1_Missense_Mutation_p.G191W|DACT1_ENST00000395151.3_Missense_Mutation_p.G191W	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	472					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CATTGGGACAGGGGAGTCCCC	0.612000													11	59					5.16669e-11	9.09595e-11	0.000978	1	0
ZNF521	25925	broad.mit.edu	37	18	22805561	22805561	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:22805561T>A	ENST00000361524.3	-	4	2469	c.2321A>T	c.(2320-2322)aAc>aTc	p.N774I	ZNF521_ENST00000584787.1_Missense_Mutation_p.N554I|ZNF521_ENST00000538137.2_Missense_Mutation_p.N774I	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	774					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTCCAGGTGGTTGTGTTTCAC	0.488000			T	PAX5	ALL								13	49					0	0	0.001368	0	0
TRIM28	10155	broad.mit.edu	37	19	59060803	59060803	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:59060803C>T	ENST00000253024.5	+	13	2057	c.1768C>T	c.(1768-1770)Ccc>Tcc	p.P590S	TRIM28_ENST00000341753.6_Missense_Mutation_p.P508S	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	590					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TGCTGAGGGTCCCCGCCTGGC	0.662000													16	72					0	0	0.004007	0	0
GPR158	57512	broad.mit.edu	37	10	25839989	25839989	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:25839989G>C	ENST00000376351.3	+	6	1848	c.1489G>C	c.(1489-1491)Gga>Cga	p.G497R		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	497						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TACTGTTTACGGAACTGTCAC	0.398000													44	140					0	0	0.003610	0	0
SPEF2	79925	broad.mit.edu	37	5	35649493	35649493	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:35649493G>T	ENST00000440995.2	+	6	757	c.757G>T	c.(757-759)Gca>Tca	p.A253S	SPEF2_ENST00000509059.1_Missense_Mutation_p.A253S|SPEF2_ENST00000282469.6_Missense_Mutation_p.A253S|SPEF2_ENST00000356031.3_Missense_Mutation_p.A253S			Q9C093	SPEF2_HUMAN	sperm flagellar 2	253					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)			GAAGTTCGAAGCATTAATAAA	0.313000													86	105					2.76863e-45	6.42836e-45	0.003610	1	0
FOLR4	390243	broad.mit.edu	37	11	94040634	94040634	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:94040634C>A	ENST00000440961.2	+	4	552	c.508C>A	c.(508-510)Cat>Aat	p.H170N		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	177						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CCCTTTCTCCCATTACTTCCC	0.587000													9	50					0.00448238	0.00501238	0.004482	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84706487	84706487	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:84706487G>T	ENST00000286744.5	+	30	5229	c.5005G>T	c.(5005-5007)Gta>Tta	p.V1669L	ADAMTSL3_ENST00000567476.1_Intron	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1669	PLAC.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGTATGTTTGTAAAACATCT	0.373000													31	139					1.99505e-19	4.27393e-19	0.002445	1	0
IL18R1	8809	broad.mit.edu	37	2	102992475	102992475	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:102992475G>T	ENST00000409599.1	+	6	933	c.577G>T	c.(577-579)Gga>Tga	p.G193*	IL18R1_ENST00000233957.1_Nonsense_Mutation_p.G193*			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	193	Ig-like C2-type 2.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TCATCATAATGGAAAACTATT	0.353000													12	46					1.61879e-10	2.8053e-10	0.001368	1	0
TRIM67	440730	broad.mit.edu	37	1	231344821	231344821	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:231344821G>T	ENST00000444294.3	+	8	2800	c.1942G>T	c.(1942-1944)Gtg>Ttg	p.V648L	TRIM67_ENST00000366652.2_Missense_Mutation_p.V650L|TRIM67_ENST00000449018.3_Missense_Mutation_p.V588L|TRIM67_ENST00000366653.5_Missense_Mutation_p.V650L	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	650	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding	p.V650M(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CTCCAAGGGCGTGCACTACTG	0.617000													5	105					0.00198382	0.00225084	0.001984	1	0
DTNA	1837	broad.mit.edu	37	18	32374206	32374206	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:32374206G>A	ENST00000283365.9	+	5	705	c.354G>A	c.(352-354)gcG>gcA	p.A118A	DTNA_ENST00000315456.6_Silent_p.A118A|DTNA_ENST00000595022.1_Silent_p.A118A|DTNA_ENST00000399121.5_Silent_p.A118A|DTNA_ENST00000597599.1_Silent_p.A118A|DTNA_ENST00000269191.6_Silent_p.A118A|DTNA_ENST00000269190.7_Silent_p.A118A|DTNA_ENST00000596745.1_Silent_p.A118A|DTNA_ENST00000444659.1_Silent_p.A118A|DTNA_ENST00000348997.5_Silent_p.A118A|DTNA_ENST00000598774.1_Silent_p.A118A|DTNA_ENST00000598142.1_Silent_p.A118A|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000554864.3_Silent_p.A118A|DTNA_ENST00000399113.3_Silent_p.A118A|DTNA_ENST00000598334.1_Silent_p.A118A	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	118	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TGCTTGCAGCGTTTGATCCGT	0.443000													5	70					0	0	0.000602	0	0
LRRK2	120892	broad.mit.edu	37	12	40758647	40758647	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:40758647G>T	ENST00000298910.7	+	49	7243	c.7185G>T	c.(7183-7185)gaG>gaT	p.E2395D		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2395			E -> K.		activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTTCTAGGGAGGTAATGGTAA	0.299000											OREG0003828	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	34					8.12818e-05	0.000100935	0.001984	1	0
SLIT1	6585	broad.mit.edu	37	10	98761095	98761095	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:98761095C>A	ENST00000266058.4	-	37	4624	c.4379G>T	c.(4378-4380)cGg>cTg	p.R1460L	SLIT1_ENST00000371070.4_Missense_Mutation_p.G1419W|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1460	CTCK.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AGGGTCCCCCCGGCACTCGGA	0.662000													7	60					0.00198382	0.00225084	0.001984	1	0
EYA4	2070	broad.mit.edu	37	6	133846166	133846166	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:133846166T>G	ENST00000355167.3	+	19	2210	c.1752T>G	c.(1750-1752)tgT>tgG	p.C584W	EYA4_ENST00000367895.5_Intron|EYA4_ENST00000525849.1_Missense_Mutation_p.C561W|EYA4_ENST00000431403.2_Missense_Mutation_p.C584W|EYA4_ENST00000452339.2_Missense_Mutation_p.C530W|EYA4_ENST00000430974.2_Missense_Mutation_p.C536W|EYA4_ENST00000531901.1_Intron|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000355286.6_Intron	NM_172105.3	NP_742103.1	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	584					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AGGAAAGCTGTTTTGAGCGTA	0.413000													22	94					0	0	0.002299	0	0
DAZAP1	26528	broad.mit.edu	37	19	1433737	1433737	+	Splice_Site	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:1433737G>T	ENST00000336761.6	+	12	1253		c.e12-1		DAZAP1_ENST00000233078.4_Intron	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1						cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCTTGCCAGGCCTGGGTTC	0.652000													9	46					9.70103e-10	1.63015e-09	0.008291	1	0
VPS13A	23230	broad.mit.edu	37	9	79959117	79959117	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:79959117G>T	ENST00000360280.3	+	51	7335	c.7075G>T	c.(7075-7077)Gtc>Ttc	p.V2359F	VPS13A_ENST00000357409.5_Missense_Mutation_p.V2359F|VPS13A_ENST00000376636.3_Missense_Mutation_p.V2320F|VPS13A_ENST00000376634.4_Missense_Mutation_p.V2359F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2359					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCTTATTCAAGTCGAAAGGAG	0.294000													26	91					3.6726e-16	7.55465e-16	0.003954	1	0
ITGAL	3683	broad.mit.edu	37	16	30486883	30486883	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:30486883C>A	ENST00000356798.6	+	4	489	c.309C>A	c.(307-309)ccC>ccA	p.P103P	ITGAL_ENST00000454514.2_Silent_p.P103P|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.P103P	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	103					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CAACAGACCCCACAGATGGAA	0.468000													8	59					0.00448238	0.00501238	0.004482	1	0
SLC6A7	6534	broad.mit.edu	37	5	149583541	149583541	+	Silent	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:149583541G>C	ENST00000230671.2	+	10	1643	c.1272G>C	c.(1270-1272)gcG>gcC	p.A424A	SLC6A7_ENST00000524041.1_Silent_p.A424A	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	424						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CCAAGAAGGCGGTGTTCTCAG	0.587000													3	24					0	0	0.004672	0	0
RND3	390	broad.mit.edu	37	2	151326716	151326716	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:151326716A>C	ENST00000375734.2	-	5	769	c.520T>G	c.(520-522)Tat>Gat	p.Y174D	RND3_ENST00000409557.1_Missense_Mutation_p.Y45D|RND3_ENST00000263895.4_Missense_Mutation_p.Y174D	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	174					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		CATTCGATATAAGTAGCTGCT	0.413000													15	61					0	0	0.002450	0	0
ABCA5	23461	broad.mit.edu	37	17	67309287	67309287	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:67309287T>A	ENST00000392676.3	-	3	317	c.253A>T	c.(253-255)Act>Tct	p.T85S	ABCA5_ENST00000392677.2_Missense_Mutation_p.T85S|ABCA5_ENST00000588877.1_Missense_Mutation_p.T85S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	85					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GTAATATTAGTCACTGGAGTA	0.318000													46	57					0	0	0.003610	0	0
MEGF8	1954	broad.mit.edu	37	19	42830422	42830422	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:42830422G>T	ENST00000334370.4	+	1	662	c.27G>T	c.(25-27)atG>atT	p.M9I	MEGF8_ENST00000251268.6_Missense_Mutation_p.M9I	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	9						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TTCTGGCCATGGCACTGGTTT	0.697000											OREG0025502	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	22					0.00448238	0.00501238	0.004482	1	0
CD1C	911	broad.mit.edu	37	1	158261064	158261064	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:158261064C>T	ENST00000368170.3	+	2	481	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	68					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AATAATTTTCCTGCATAACTG	0.473000													4	89					0	0	0.009096	0	0
KRT34	3885	broad.mit.edu	37	17	39537458	39537458	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:39537458C>A	ENST00000394001.1	-	3	594	c.564G>T	c.(562-564)caG>caT	p.Q188H		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	188	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				ACTGCTCCGTCTGGTACCTGC	0.537000													16	54					5.35267e-07	7.70129e-07	0.007413	1	0
MAGEA12	4111	broad.mit.edu	37	X	151900479	151900479	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:151900479C>G	ENST00000393900.3	-	3	675	c.322G>C	c.(322-324)Gca>Cca	p.A108P	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.A108P|MAGEA12_ENST00000357916.4_Missense_Mutation_p.A108P	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	108										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTACTGAGTGCTACTTGGAAG	0.512000													29	47					0	0	0.008361	0	0
UBR4	23352	broad.mit.edu	37	1	19518755	19518755	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:19518755C>A	ENST00000375267.2	-	11	1324	c.1321G>T	c.(1321-1323)Gcc>Tcc	p.A441S	UBR4_ENST00000375217.2_Missense_Mutation_p.A441S|UBR4_ENST00000375254.3_Missense_Mutation_p.A441S|UBR4_ENST00000375226.2_Missense_Mutation_p.A441S			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	441					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACTCGGAGGGCAGCCAGTGGG	0.493000													23	73					9.57634e-11	1.67451e-10	0.003330	1	0
KIF16B	55614	broad.mit.edu	37	20	16407835	16407835	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:16407835C>A	ENST00000354981.2	-	15	1683	c.1526G>T	c.(1525-1527)gGg>gTg	p.G509V	KIF16B_ENST00000408042.1_Missense_Mutation_p.G509V|KIF16B_ENST00000355755.3_Missense_Mutation_p.G509V|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	509	FHA.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CACTGTCCCCCCGATATTTTC	0.443000													23	103					5.26018e-13	9.91317e-13	0.001882	1	0
LRRC47	57470	broad.mit.edu	37	1	3703638	3703638	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:3703638C>A	ENST00000378251.1	-	2	879	c.852G>T	c.(850-852)agG>agT	p.R284S		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	284					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		tcctctccctcctcttcctcc	0.667000													6	28					3.59834e-05	4.61623e-05	0.001168	1	0
OR1E1	8387	broad.mit.edu	37	17	3301588	3301588	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:3301588G>T	ENST00000322608.2	-	1	116	c.117C>A	c.(115-117)ctC>ctA	p.L39L		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						GGTTCCCCAGGAGGGTGGTAA	0.522000													32	35					3.21399e-22	7.0909e-22	0.004878	1	0
WDHD1	11169	broad.mit.edu	37	14	55462532	55462532	+	Splice_Site	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:55462532C>A	ENST00000360586.3	-	11	1008		c.e11-1		WDHD1_ENST00000420358.2_Splice_Site|WDHD1_ENST00000421192.1_Splice_Site	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1							cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TGCTAGATACCTTGAACAAAT	0.284000													4	20					0.00909568	0.00995582	0.009096	1	0
KIF23	9493	broad.mit.edu	37	15	69721485	69721485	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:69721485G>T	ENST00000260363.4	+	10	1122	c.1005G>T	c.(1003-1005)ttG>ttT	p.L335F	KIF23_ENST00000558585.1_Missense_Mutation_p.L152F|KIF23_ENST00000352331.4_Missense_Mutation_p.L335F|KIF23_ENST00000559279.1_Missense_Mutation_p.L335F|KIF23_ENST00000395392.2_Missense_Mutation_p.L335F|KIF23_ENST00000537891.1_Missense_Mutation_p.L152F	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	335	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AGTTGTCCTTGGTAGATCTTG	0.348000													8	24					1.12685e-05	1.49636e-05	0.004482	1	0
KIAA1210	57481	broad.mit.edu	37	X	118221961	118221961	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:118221961C>T	ENST00000402510.2	-	11	3231	c.3232G>A	c.(3232-3234)Gca>Aca	p.A1078T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1078										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGTGTTGGTGCCACAGGACTG	0.512000													31	35					0	0	0.007291	0	0
APOBR	55911	broad.mit.edu	37	16	28509408	28509408	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:28509408C>A	ENST00000564831.1	+	3	2995	c.2962C>A	c.(2962-2964)Ctc>Atc	p.L988I	APOBR_ENST00000431282.1_Missense_Mutation_p.L979I|APOBR_ENST00000328423.5_Missense_Mutation_p.L979I	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	979					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCAGGCCCCGCTCCCCGGGTC	0.672000													3	22					0.004672	0.00520192	0.004672	1	0
FOXB2	442425	broad.mit.edu	37	9	79634727	79634727	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:79634727C>A	ENST00000376708.1	+	1	157	c.157C>A	c.(157-159)Cac>Aac	p.H53N		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	53					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						CTACCGCGAGCACACACAGCG	0.602000													7	22					2.0095e-06	2.78777e-06	0.001984	1	0
SPATA31E1	286234	broad.mit.edu	37	9	90500130	90500130	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:90500130C>A	ENST00000325643.5	+	4	794	c.728C>A	c.(727-729)cCt>cAt	p.P243H		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GTGGTTTTTCCTCCTTCACCA	0.617000													15	59					2.31682e-05	2.99949e-05	0.003163	1	0
ARMC3	219681	broad.mit.edu	37	10	23326361	23326361	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:23326361C>A	ENST00000298032.5	+	19	2656	c.2572C>A	c.(2572-2574)Ctg>Atg	p.L858M	ARMC3_ENST00000409983.3_Missense_Mutation_p.L851M|ARMC3_ENST00000376528.4_Missense_Mutation_p.L595M	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	858							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCCAGGTGGACTGATGAAGTT	0.478000													12	45					0.000151284	0.000186668	0.001855	1	0
IL18R1	8809	broad.mit.edu	37	2	102984392	102984392	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:102984392T>G	ENST00000409599.1	+	4	522	c.166T>G	c.(166-168)Tgg>Ggg	p.W56G	IL18R1_ENST00000334376.3_Missense_Mutation_p.W56G|IL18R1_ENST00000233957.1_Missense_Mutation_p.W56G			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	56	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CACCAAAAGCTGGTACAAAAG	0.448000													9	56					0	0	0.008291	0	0
FBXO3	26273	broad.mit.edu	37	11	33768852	33768852	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:33768852T>A	ENST00000530401.1	-	10	1068	c.1048A>T	c.(1048-1050)Atc>Ttc	p.I350F	FBXO3_ENST00000526785.1_Missense_Mutation_p.I242F|FBXO3_ENST00000265651.3_Missense_Mutation_p.I355F|FBXO3_ENST00000531080.1_Missense_Mutation_p.I42F|FBXO3_ENST00000534136.1_Missense_Mutation_p.I355F|FBXO3_ENST00000532057.1_Missense_Mutation_p.I42F|FBXO3_ENST00000448981.2_Missense_Mutation_p.I355F			Q9UK99	FBX3_HUMAN	F-box protein 3	355	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		CCTGGGCTGATGATTGGAAAT	0.343000													12	72					0	0	0.001368	0	0
PNLDC1	154197	broad.mit.edu	37	6	160234689	160234689	+	Splice_Site	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:160234689G>A	ENST00000275275.5	+	12	1133		c.e12+1		PNLDC1_ENST00000392167.3_Splice_Site	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1							integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCCTGAACAGGTGAGGACGGC	0.532000													10	78					0	0	0.000978	0	0
HMGN2P46	283651	broad.mit.edu	37	15	45848209	45848209	+	RNA	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:45848209A>G	ENST00000409454.1	+	0	1204																											CAAGTTTTATAAAAATGCAGA	0.318000													6	19					0	0	0.001168	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170590	90170590	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:90170590C>T	ENST00000333209.3	-	2	1190	c.672G>A	c.(670-672)caG>caA	p.Q224Q		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	224										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		AGATGGCTCCCTGCCTTTCCC	0.547000													16	29					0	0	0.004007	0	0
BRAF	673	broad.mit.edu	37	7	140434505	140434505	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:140434505G>A	ENST00000288602.6	-	18	2253	c.2193C>T	c.(2191-2193)ccC>ccT	p.P731P		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	731					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GATTCAAGGAGGGTTCTGATG	0.433000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				63	248					0	0	0.003610	0	0
SPTBN5	51332	broad.mit.edu	37	15	42158680	42158680	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:42158680C>A	ENST00000320955.6	-	37	6719	c.6492G>T	c.(6490-6492)tgG>tgT	p.W2164C		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2164					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACGCCTGGATCCAGTCCTCAG	0.637000													10	33					4.3838e-07	6.3367e-07	0.001855	1	0
CCDC180	100499483	broad.mit.edu	37	9	100057211	100057211	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:100057211C>G	ENST00000357054.1	+	14	1270	c.335C>G	c.(334-336)aCa>aGa	p.T112R	CCDC180_ENST00000375202.2_5'UTR|RP11-23J9.5_ENST00000375204.2_RNA|CCDC180_ENST00000395220.1_Missense_Mutation_p.T112R|CCDC180_ENST00000375205.2_Missense_Mutation_p.T152R|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_5'UTR					coiled-coil domain containing 180																		ATCCTGATCACAAATCACAGG	0.488000													10	48					0	0	0.006214	0	0
NBEA	26960	broad.mit.edu	37	13	35517201	35517201	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:35517201C>T	ENST00000540320.1	+	1	778	c.244C>T	c.(244-246)Cag>Tag	p.Q82*	NBEA_ENST00000400445.3_Nonsense_Mutation_p.Q82*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.Q82*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.Q82*			Q8NFP9	NBEA_HUMAN	neurobeachin	82						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGGACTCATACAGGTCGGAGA	0.577000													14	84					0	0	0.004007	0	0
NXPE4	54827	broad.mit.edu	37	11	114453675	114453675	+	Silent	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:114453675A>T	ENST00000375478.3	-	3	345	c.165T>A	c.(163-165)ccT>ccA	p.P55P	NXPE4_ENST00000424261.2_5'UTR	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		GTGGTGTTTTAGGGAATAAGG	0.408000													42	226					0	0	0.007835	0	0
NBN	4683	broad.mit.edu	37	8	90971064	90971064	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:90971064G>A	ENST00000265433.3	-	9	1167	c.1013C>T	c.(1012-1014)cCa>cTa	p.P338L	NBN_ENST00000409330.1_Missense_Mutation_p.P256L	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	338					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GCTTGGTCCTGGAGTTGTTGT	0.403000								Homologous recombination					21	130					0	0	0.003330	0	0
AKAP12	9590	broad.mit.edu	37	6	151672172	151672172	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:151672172G>A	ENST00000402676.2	+	4	2886	c.2646G>A	c.(2644-2646)aaG>aaA	p.K882K	AKAP12_ENST00000354675.6_Silent_p.K784K|AKAP12_ENST00000253332.1_Silent_p.K882K|AKAP12_ENST00000359755.5_Silent_p.K777K	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	882					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGGTGTCCAAGGAGCTCAGCG	0.527000													15	72					0	0	0.004007	0	0
ASPHD1	253982	broad.mit.edu	37	16	29912906	29912906	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:29912906C>T	ENST00000308748.5	+	1	866	c.614C>T	c.(613-615)gCc>gTc	p.A205V	ASPHD1_ENST00000483405.1_5'UTR	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	205					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CCGCGGGACGCCCAGCGGCAC	0.667000													12	78					0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9072998	9072998	+	Silent	SNP	T	T	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:9072998T>G	ENST00000397910.4	-	3	14651	c.14448A>C	c.(14446-14448)gcA>gcC	p.A4816A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4818	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGGTGGCTGCTGAAGTGA	0.458000													8	44					0	0	0.003080	0	0
CUTC	51076	broad.mit.edu	37	10	101507079	101507079	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:101507079G>T	ENST00000370476.5	+	6	634	c.505G>T	c.(505-507)Gtg>Ttg	p.V169L		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	169					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		ATTTGAACGCGTGTTGACCAG	0.428000													24	107					1.75199e-13	3.34646e-13	0.007291	1	0
TMC1	117531	broad.mit.edu	37	9	75315434	75315434	+	Splice_Site	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:75315434A>T	ENST00000297784.5	+	8	777	c.236_splice	c.e8-1	p.A79_splice	TMC1_ENST00000340019.3_Splice_Site_p.A79_splice|TMC1_ENST00000396237.3_Splice_Site_p.A79_splice	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	79	Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ACTTTTAAAGAGAAGAAGAAG	0.313000													18	57					0	0	0.010504	0	0
CRTC3	64784	broad.mit.edu	37	15	91185331	91185331	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:91185331G>T	ENST00000420329.2	+	15	1963	c.1816G>T	c.(1816-1818)Gac>Tac	p.D606Y	CRTC3_ENST00000268184.6_Missense_Mutation_p.D607Y|RP11-387D10.2_ENST00000559531.1_RNA	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	607					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GGGCCTGCTGGACCCCTCTGT	0.498000			T	MAML2	salivary gland mucoepidermoid								11	33					7.03913e-09	1.11633e-08	0.001368	1	0
IGF2R	3482	broad.mit.edu	37	6	160485548	160485548	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:160485548C>A	ENST00000356956.1	+	28	4150	c.4002C>A	c.(4000-4002)gaC>gaA	p.D1334E		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1334					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TCTACTGTGACCGCGGCACCC	0.527000													17	101					7.07596e-05	8.90813e-05	0.006122	1	0
APOD	347	broad.mit.edu	37	3	195300747	195300747	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:195300747C>A	ENST00000343267.3	-	3	580	c.219G>T	c.(217-219)aaG>aaT	p.K73N		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	73					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		ACACTTTGATCTTTCCGTTTT	0.537000													11	43					3.07112e-06	4.20786e-06	0.000978	1	0
ZNHIT1	10467	broad.mit.edu	37	7	100865895	100865895	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:100865895G>T	ENST00000305105.2	+	2	561	c.33G>T	c.(31-33)caG>caT	p.Q11H	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	11							metal ion binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					TTCGCTCCCAGGACCCCGGGC	0.682000													34	79					1.04594e-18	2.21922e-18	0.006230	1	0
COL11A2	1302	broad.mit.edu	37	6	33141504	33141504	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:33141504C>A	ENST00000341947.2	-	35	2829	c.2602G>T	c.(2602-2604)Ggc>Tgc	p.G868C	COL11A2_ENST00000374714.1_Missense_Mutation_p.G842C|COL11A2_ENST00000361917.1_Missense_Mutation_p.G761C|COL11A2_ENST00000374713.1_Missense_Mutation_p.G821C|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374708.4_Missense_Mutation_p.G782C|COL11A2_ENST00000357486.1_Missense_Mutation_p.G847C|COL11A2_ENST00000374712.1_Missense_Mutation_p.G787C|COL11A2_ENST00000395197.1_Missense_Mutation_p.G808C	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	868	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCATGGGGGCCATCACCACCA	0.637000													6	24					8.12818e-05	0.000100935	0.001984	1	0
CASKIN1	57524	broad.mit.edu	37	16	2237017	2237017	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:2237017G>T	ENST00000343516.6	-	9	984	c.892C>A	c.(892-894)Ctg>Atg	p.L298M		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	298	SH3.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						AGGCTGGTCAGGTCGTAATTG	0.652000													12	49					4.3838e-07	6.3367e-07	0.001855	1	0
JPH2	57158	broad.mit.edu	37	20	42744521	42744521	+	Silent	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:42744521G>C	ENST00000372980.3	-	4	2666	c.1794C>G	c.(1792-1794)tcC>tcG	p.S598S		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	598	Pro-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGTGGCCGGGGACGAGGGCG	0.741000													4	5					0	0	0.009096	0	0
C10orf62	414157	broad.mit.edu	37	10	99350245	99350245	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:99350245C>G	ENST00000370640.3	+	1	796	c.591C>G	c.(589-591)caC>caG	p.H197Q	HOGA1_ENST00000370646.4_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	197	His-rich.						protein binding			endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		ATCACACACACACCTTCTATG	0.547000													7	49					0	0	0.001984	0	0
NAV2	89797	broad.mit.edu	37	11	20067154	20067154	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:20067154G>T	ENST00000396085.1	+	14	4201	c.3840G>T	c.(3838-3840)ccG>ccT	p.P1280P	NAV2_ENST00000360655.4_Silent_p.P1216P|NAV2_ENST00000349880.4_Silent_p.P1280P|NAV2_ENST00000533917.1_Silent_p.P366P|NAV2_ENST00000396087.3_Silent_p.P1303P|NAV2_ENST00000540292.1_Silent_p.P1234P|NAV2_ENST00000527559.2_Silent_p.P1232P|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Silent_p.P366P	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1303						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGTCCAGTCCGGCTCAGACCA	0.542000													7	40					0.000157383	0.000191602	0.003080	1	0
LHX6	26468	broad.mit.edu	37	9	124979411	124979411	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:124979411C>T	ENST00000394319.4	-	5	722	c.618G>A	c.(616-618)gaG>gaA	p.E206E	LHX6_ENST00000541397.2_Silent_p.E195E|LHX6_ENST00000373755.2_Silent_p.E177E|LHX6_ENST00000373754.2_Silent_p.E177E|LHX6_ENST00000559895.1_5'UTR|LHX6_ENST00000340587.3_Silent_p.E206E	NM_014368.4	NP_055183.2	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	177					cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						AGAGCACCTTCTCCTCGACCA	0.642000													11	37					0	0	0.001855	0	0
XIST	7503	broad.mit.edu	37	X	73066692	73066692	+	RNA	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:73066692G>T	ENST00000429829.1	-	0	5896					NR_001564.2																						TAAGTGAATAGTACCCCATGC	0.418000													11	26					3.86212e-05	4.92206e-05	0.008291	1	0
ALK	238	broad.mit.edu	37	2	29416683	29416683	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:29416683G>T	ENST00000389048.3	-	29	5176	c.4270C>A	c.(4270-4272)Ctc>Atc	p.L1424I	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1424					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GAGACCAGGAGAGGAGGAACC	0.577000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				13	77					2.27111e-07	3.32311e-07	0.001368	1	0
CCL13	6357	broad.mit.edu	37	17	32685123	32685123	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:32685123C>A	ENST00000225844.2	+	3	345	c.270C>A	c.(268-270)ggC>ggA	p.G90G		NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN	chemokine (C-C motif) ligand 13	90					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				AACACCTGGGCCGGAAAGCTC	0.502000													15	21					5.01169e-05	6.37665e-05	0.004990	1	0
SLC28A2	9153	broad.mit.edu	37	15	45559870	45559870	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:45559870G>A	ENST00000347644.3	+	12	1140	c.1075G>A	c.(1075-1077)Gca>Aca	p.A359T	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	359					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		ACAGGTTGATGCATCATCCCT	0.527000													35	95					0	0	0.002836	0	0
SETBP1	26040	broad.mit.edu	37	18	42531391	42531391	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:42531391C>A	ENST00000282030.5	+	4	2382	c.2086C>A	c.(2086-2088)Cca>Aca	p.P696T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	696						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAAAGCTCCCCCAGAGACCAG	0.488000									Schinzel-Giedion syndrome				9	39					1.12685e-05	1.49636e-05	0.004482	1	0
MON2	23041	broad.mit.edu	37	12	62929418	62929418	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:62929418A>T	ENST00000393630.3	+	14	2220	c.1829A>T	c.(1828-1830)aAa>aTa	p.K610I	MON2_ENST00000552738.1_Missense_Mutation_p.K610I|MON2_ENST00000393629.2_Missense_Mutation_p.K610I|MON2_ENST00000393632.2_Missense_Mutation_p.K610I|MON2_ENST00000552115.1_Missense_Mutation_p.K610I|MON2_ENST00000546600.1_Missense_Mutation_p.K610I|MON2_ENST00000280379.6_Missense_Mutation_p.K610I	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	610					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GCAATATGCAAAGGTTCCCTG	0.418000													9	119					0	0	0.008291	0	0
POM121L12	285877	broad.mit.edu	37	7	53103753	53103753	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:53103753C>A	ENST00000408890.4	+	1	405	c.389C>A	c.(388-390)cCa>cAa	p.P130Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	130										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCCTGGAACCCAGGACGGACC	0.711000													22	28					6.44725e-10	1.08811e-09	0.002299	1	0
CELA1	1990	broad.mit.edu	37	12	51737586	51737586	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:51737586T>C	ENST00000293636.1	-	3	191	c.151A>G	c.(151-153)Acc>Gcc	p.T51A		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	51	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CTGATAAGGGTCCCTCCACAG	0.517000													4	15					0	0	0.000602	0	0
DPP3	10072	broad.mit.edu	37	11	66272139	66272139	+	Silent	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:66272139A>T	ENST00000532677.1	+	17	2393	c.1992A>T	c.(1990-1992)gcA>gcT	p.A664A	DPP3_ENST00000360510.2_Silent_p.A645A|DPP3_ENST00000453114.1_Silent_p.A645A|DPP3_ENST00000530165.1_Silent_p.A615A|DPP3_ENST00000541961.1_Silent_p.A645A|DPP3_ENST00000531863.1_Silent_p.A665A	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	645					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						AGGGGTATGCAACAGTCACTG	0.597000													14	67					0	0	0.003163	0	0
DICER1	23405	broad.mit.edu	37	14	95562588	95562588	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:95562588T>C	ENST00000526495.1	-	25	4960	c.4669A>G	c.(4669-4671)Aaa>Gaa	p.K1557E	DICER1_ENST00000541352.1_Missense_Mutation_p.K1557E|DICER1_ENST00000527414.1_Missense_Mutation_p.K1557E|DICER1_ENST00000343455.3_Missense_Mutation_p.K1557E|DICER1_ENST00000556045.1_Missense_Mutation_p.K455E|DICER1_ENST00000393063.1_Missense_Mutation_p.K1557E			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1557					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GCTATGCTTTTGTCAGCAATA	0.517000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				20	54					0	0	0.010504	0	0
TIAM1	7074	broad.mit.edu	37	21	32554864	32554864	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr21:32554864C>A	ENST00000286827.3	-	16	3232	c.2761G>T	c.(2761-2763)Ggc>Tgc	p.G921C	TIAM1_ENST00000541036.1_Missense_Mutation_p.G861C	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	921					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ACCAGGAGGCCCAGCGAGGGC	0.597000													10	30					1.76689e-08	2.75422e-08	0.006214	1	0
PKD1L2	114780	broad.mit.edu	37	16	81181067	81181067	+	RNA	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:81181067G>T	ENST00000525539.1	-	0	5023				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCCCAAGGCGGGGGATGGCAC	0.552000													10	61					1.58986e-06	2.22552e-06	0.008291	1	0
SYT6	148281	broad.mit.edu	37	1	114680573	114680573	+	Silent	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:114680573G>C	ENST00000393296.1	-	3	692	c.615C>G	c.(613-615)ggC>ggG	p.G205G	SYT6_ENST00000369547.1_Silent_p.G120G			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	205					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTTGATGCGGCCAATGCTGG	0.572000													8	49					0	0	0.004482	0	0
UFC1	51506	broad.mit.edu	37	1	161127458	161127458	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:161127458G>T	ENST00000368003.5	+	4	553	c.307G>T	c.(307-309)Gat>Tat	p.D103Y	UFC1_ENST00000473766.1_3'UTR|RP11-297K8.2_ENST00000420498.1_RNA	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	103					protein ufmylation		protein binding|UFM1 conjugating enzyme activity			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCCTGAGCTGGATGGAAAGAC	0.423000													15	32					5.01169e-05	6.37665e-05	0.004990	1	0
UTRN	7402	broad.mit.edu	37	6	144806654	144806654	+	Splice_Site	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:144806654A>T	ENST00000367545.3	+	27	3821	c.3822_splice	c.e27+1	p.E1274_splice		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1274					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAAGCCCTGGAGGTTGGAACC	0.473000													14	90					0	0	0.004007	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764047	77764047	+	Silent	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:77764047T>A	ENST00000521891.2	+	10	5338	c.4890T>A	c.(4888-4890)ggT>ggA	p.G1630G	ZFHX4_ENST00000518282.1_Silent_p.G1604G|ZFHX4_ENST00000455469.2_Silent_p.G1585G|ZFHX4_ENST00000050961.6_Silent_p.G1585G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1585						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCCCAGTGGTCATGTGGCTG	0.512000										HNSCC(33;0.089)			11	49					0	0	0.008291	0	0
S1PR5	53637	broad.mit.edu	37	19	10624708	10624708	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:10624708G>T	ENST00000439028.3	-	2	1105	c.980C>A	c.(979-981)tCc>tAc	p.S327Y	S1PR5_ENST00000333430.4_Missense_Mutation_p.S327Y	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	327						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						TCTGCCGCAGGAGTGGCGTCC	0.701000													5	14					1.23904e-05	1.63414e-05	0.000602	1	0
ABCD2	225	broad.mit.edu	37	12	40012998	40012998	+	Silent	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:40012998A>T	ENST00000308666.3	-	1	555	c.420T>A	c.(418-420)ccT>ccA	p.P140P		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	140	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TGAAAGTCCGAGGCTTCTTTT	0.433000													8	89					0	0	0.004482	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818815	159818815	+	RNA	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:159818815G>A	ENST00000497452.1	-	0	517																											CAAACACaaggacagaaagcg	0.478000													40	256					0	0	0.008740	0	0
KRT79	338785	broad.mit.edu	37	12	53227961	53227961	+	Missense_Mutation	SNP	C	C	A	rs147649221	byFrequency	TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:53227961C>A	ENST00000330553.5	-	1	118	c.84G>T	c.(82-84)caG>caT	p.Q28H		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	28	Head.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGTGCGGGCCTGGGACCCAC	0.662000													9	61					0.000274275	0.000328495	0.004482	1	0
CD300C	10871	broad.mit.edu	37	17	72541058	72541058	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:72541058G>T	ENST00000330793.1	-	2	450	c.90C>A	c.(88-90)acC>acA	p.T30T		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	30	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.T30T(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						GGCCCGCCACGGTCATGGGGT	0.577000													9	24					1.87028e-06	2.6157e-06	0.001882	1	0
LEPR	3953	broad.mit.edu	37	1	66036391	66036391	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:66036391G>T	ENST00000349533.6	+	4	461	c.276G>T	c.(274-276)cgG>cgT	p.R92R	LEPR_ENST00000371058.1_Silent_p.R92R|LEPR_ENST00000344610.8_Silent_p.R92R|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371060.3_Silent_p.R92R|LEPR_ENST00000371059.3_Silent_p.R92R	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	92					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GTTGCTTTCGGAGTGAGCAAG	0.353000													16	85					4.14922e-12	7.63397e-12	0.004007	1	0
ANO5	203859	broad.mit.edu	37	11	22272336	22272336	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:22272336C>A	ENST00000324559.8	+	11	1380	c.1063C>A	c.(1063-1065)Ctc>Atc	p.L355I		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	355						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATGTGCCCACTCTGTGATCA	0.393000													14	122					1.49906e-05	1.96538e-05	0.002450	1	0
KCNV1	27012	broad.mit.edu	37	8	110980774	110980774	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:110980774A>G	ENST00000524391.1	-	4	2078	c.1046T>C	c.(1045-1047)cTg>cCg	p.L349P	KCNV1_ENST00000297404.1_Missense_Mutation_p.L349P			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	349						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AAATAGGAGCAGTAGGCCGAC	0.458000													8	46					0	0	0.006214	0	0
TMEM171	134285	broad.mit.edu	37	5	72419371	72419371	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:72419371G>T	ENST00000454765.2	+	2	644	c.171G>T	c.(169-171)atG>atT	p.M57I	TMEM171_ENST00000287773.5_Missense_Mutation_p.M57I			Q8WVE6	TM171_HUMAN	transmembrane protein 171	57						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		ACTGCCCCATGGTGCTCAAGG	0.622000													4	31					0.00909568	0.00995582	0.009096	1	0
IGLV3-10	28803	broad.mit.edu	37	22	23154590	23154590	+	RNA	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr22:23154590G>T	ENST00000390315.2	+	0	194																											ATGCTTATTGGTACCAGCAGA	0.557000													16	55					1.62849e-17	3.41323e-17	0.004007	1	0
MTG1	92170	broad.mit.edu	37	10	135209256	135209256	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:135209256G>T	ENST00000468317.2	+	3	422	c.167G>T	c.(166-168)tGt>tTt	p.C56F	MTG1_ENST00000317502.6_Missense_Mutation_p.C51F|MTG1_ENST00000477902.2_Missense_Mutation_p.C10F																							CTGGTGGACTGTATCATCGAG	0.522000													5	26					2.0095e-06	2.78777e-06	0.001984	1	0
STAG3	10734	broad.mit.edu	37	7	99795499	99795499	+	Splice_Site	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:99795499G>A	ENST00000426455.1	+	11	1571	c.1164_splice	c.e11+1	p.K388_splice	STAG3_ENST00000317296.5_Splice_Site_p.K388_splice|STAG3_ENST00000394018.2_Splice_Site_p.K330_splice|STAG3_ENST00000440830.1_3'UTR			Q9UJ98	STAG3_HUMAN	stromal antigen 3	388	SCD.				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCGCTTCAAGGTAAAATGGG	0.542000													5	50					0	0	0.000602	0	0
SZT2	23334	broad.mit.edu	37	1	43889916	43889916	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:43889916G>T	ENST00000562955.1	+	16	2284	c.2284G>T	c.(2284-2286)Gca>Tca	p.A762S	SZT2_ENST00000372442.1_5'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	762						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGACTACCGGGCACCCTTCTT	0.592000													6	23					3.59834e-05	4.61623e-05	0.001168	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657731	72657731	+	RNA	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:72657731G>T	ENST00000425256.1	-	0	2180					NR_002164.1																						tttcagggtgggaaagtgggc	0.483000													34	102					9.62906e-15	1.90009e-14	0.006230	1	0
PKD1L2	114780	broad.mit.edu	37	16	81181065	81181065	+	RNA	SNP	C	C	T	rs113696594		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:81181065C>T	ENST00000525539.1	-	0	5025				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGCCCAAGGCGGGGGATGGC	0.547000													10	63					0	0	0.008291	0	0
ECI2	10455	broad.mit.edu	37	6	4128035	4128035	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:4128035C>A	ENST00000465828.1	-	5	727	c.442G>T	c.(442-444)Gct>Tct	p.A148S	C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000361538.2_Missense_Mutation_p.A148S|ECI2_ENST00000380125.2_Missense_Mutation_p.A148S|ECI2_ENST00000413766.2_Missense_Mutation_p.A11S|C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000380118.3_Missense_Mutation_p.A178S			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	178					fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						TTGCTGGCAGCTTTAAGTGCA	0.368000													65	123					6.07461e-23	1.34404e-22	0.003610	1	0
KLHL32	114792	broad.mit.edu	37	6	97561897	97561897	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:97561897A>T	ENST00000369261.4	+	7	1229	c.866A>T	c.(865-867)gAc>gTc	p.D289V	KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Missense_Mutation_p.D220V|KLHL32_ENST00000536676.1_Missense_Mutation_p.D253V	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	289										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TTCCAGTCAGACACTCTGTAT	0.517000													7	46					0	0	0.001984	0	0
GPRIN1	114787	broad.mit.edu	37	5	176024651	176024651	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:176024651G>A	ENST00000303991.4	-	2	2362	c.2185C>T	c.(2185-2187)Cgc>Tgc	p.R729C		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	729						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGGCTTTGCGGTCTAACTGC	0.662000													9	39					0	0	0.006214	0	0
ANKRD44	91526	broad.mit.edu	37	2	197943366	197943366	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:197943366C>A	ENST00000409153.1	-	16	1893	c.1711G>T	c.(1711-1713)Ggc>Tgc	p.G571C	ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000539527.1_Missense_Mutation_p.G499C|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000337207.5_Intron			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	817							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAGTTAATGCCTCTGTGATTT	0.403000													3	7					0.004672	0.00520192	0.004672	1	0
PLXNA1	5361	broad.mit.edu	37	3	126708322	126708322	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:126708322G>T	ENST00000251772.4	+	1	886	c.817G>T	c.(817-819)Gtt>Ttt	p.V273F	PLXNA1_ENST00000393409.2_Missense_Mutation_p.V296F			Q9UIW2	PLXA1_HUMAN	plexin A1	296	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTACTCGTACGTTGAGTTCCC	0.647000													23	161					9.86323e-18	2.07288e-17	0.003954	1	0
ADH1B	125	broad.mit.edu	37	4	100235240	100235240	+	Splice_Site	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:100235240T>A	ENST00000305046.8	-	6	635		c.e6-2		ADH1B_ENST00000394887.3_Splice_Site			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TGGGGTGACCTGTGTTTTCAG	0.468000													50	87					0	0	0.003610	0	0
SNAPC3	6619	broad.mit.edu	37	9	15444672	15444672	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:15444672G>A	ENST00000380821.3	+	4	726	c.550G>A	c.(550-552)Gtg>Atg	p.V184M		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	184					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		TATCCTATCTGTGAATATCTT	0.318000													10	61					0	0	0.006214	0	0
NEDD1	121441	broad.mit.edu	37	12	97311456	97311456	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:97311456C>T	ENST00000266742.4	+	5	628	c.289C>T	c.(289-291)Cta>Tta	p.L97L	NEDD1_ENST00000411739.2_Silent_p.L8L|NEDD1_ENST00000457368.2_Silent_p.L8L|NEDD1_ENST00000557644.1_Silent_p.L104L|NEDD1_ENST00000555114.1_Intron|NEDD1_ENST00000429527.2_Silent_p.L97L	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	97					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						AAGCGGAGGCCTAAATAACAC	0.269000													24	176					0	0	0.005443	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100444044	100444044	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:100444044C>A	ENST00000279907.7	-	17	3832	c.3620G>T	c.(3619-3621)cGa>cTa	p.R1207L	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.R857L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1207										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ATCTTCCCCTCGGATGTCAAT	0.388000													6	41					0.00198382	0.00225084	0.001984	1	0
OR1L8	138881	broad.mit.edu	37	9	125330369	125330369	+	Missense_Mutation	SNP	G	G	T	rs149301014		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:125330369G>T	ENST00000304865.2	-	1	469	c.388C>A	c.(388-390)Cct>Act	p.P130T		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TAGTGGAAAGGGTCACAGACG	0.542000													8	48					5.68852e-11	9.99196e-11	0.004482	1	0
SPDL1	54908	broad.mit.edu	37	5	169018131	169018131	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:169018131G>A	ENST00000265295.4	+	3	518	c.239G>A	c.(238-240)tGt>tAt	p.C80Y	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		AGCTGCGAATGTGAAGCTATT	0.348000													12	71					0	0	0.001368	0	0
SH3BP4	23677	broad.mit.edu	37	2	235951595	235951595	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:235951595A>T	ENST00000409212.1	+	4	2689	c.2182A>T	c.(2182-2184)Agc>Tgc	p.S728C	SH3BP4_ENST00000392011.2_Missense_Mutation_p.S728C|SH3BP4_ENST00000344528.4_Missense_Mutation_p.S728C			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	728					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGCCCGGCCCAGCCTGTGCTC	0.657000													5	41					0	0	0.001168	0	0
ANPEP	290	broad.mit.edu	37	15	90344697	90344697	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:90344697C>T	ENST00000300060.6	-	11	2024	c.1711G>A	c.(1711-1713)Gat>Aat	p.D571N	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	571	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	ACATTGGAATCGGGGTCAAGG	0.582000													8	37					0	0	0.006214	0	0
CD300C	10871	broad.mit.edu	37	17	72541056	72541056	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:72541056A>T	ENST00000330793.1	-	2	452	c.92T>A	c.(91-93)gTg>gAg	p.V31E		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	31	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						GGGGCCCGCCACGGTCATGGG	0.572000													9	23					0	0	0.001882	0	0
PRSS33	260429	broad.mit.edu	37	16	2836101	2836101	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:2836101C>T	ENST00000576886.1	-	2	361	c.68G>A	c.(67-69)aGg>aAg	p.R23K	PRSS33_ENST00000293851.5_Missense_Mutation_p.R23K|PRSS33_ENST00000570702.1_Missense_Mutation_p.R23K			Q8NF86	PRS33_HUMAN	protease, serine, 33	23					proteolysis		serine-type endopeptidase activity			prostate(1)	1						TGCAGACTTCCTTCCCTGAGT	0.617000													5	28					0	0	0.000602	0	0
DIP2C	22982	broad.mit.edu	37	10	459875	459875	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:459875C>T	ENST00000280886.6	-	8	1122	c.1035G>A	c.(1033-1035)aaG>aaA	p.K345K	DIP2C_ENST00000381496.3_Silent_p.K238K	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	345						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGTAGAGGGGCTTCCCGTTGG	0.647000													6	33					0	0	0.001984	0	0
VWA5A	4013	broad.mit.edu	37	11	124007855	124007855	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:124007855G>T	ENST00000456829.2	+	15	2010	c.1759G>T	c.(1759-1761)Gct>Tct	p.A587S	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.A587S	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	587										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTCCTTCACAGCTTTCATTGC	0.512000													10	63					7.48243e-07	1.06764e-06	0.006214	1	0
WSCD1	23302	broad.mit.edu	37	17	5998470	5998470	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:5998470C>T	ENST00000574946.1	+	5	1166	c.776C>T	c.(775-777)aCa>aTa	p.T259I	WSCD1_ENST00000317744.5_Missense_Mutation_p.T259I|WSCD1_ENST00000539421.1_Missense_Mutation_p.T259I|WSCD1_ENST00000573634.1_Missense_Mutation_p.T143I|WSCD1_ENST00000574232.1_Missense_Mutation_p.T259I			Q658N2	WSCD1_HUMAN	WSC domain containing 1	259	WSC 2.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GAGAACATCACACATGCCTTC	0.552000													45	59					0	0	0.003214	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964116	88964116	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:88964116G>C	ENST00000333190.4	+	4	2429	c.1820G>C	c.(1819-1821)aGg>aCg	p.R607T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	607						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAAGCTTCAAGGGCCCATTGG	0.373000										HNSCC(36;0.09)			8	62					0	0	0.003080	0	0
ROR2	4920	broad.mit.edu	37	9	94493296	94493296	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:94493296C>A	ENST00000375708.3	-	7	1277	c.1079G>T	c.(1078-1080)gGg>gTg	p.G360V	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.G220V	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	360	Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGCGTGCCCCCCTCCAAGCTC	0.637000													11	37					3.86212e-05	4.92206e-05	0.008291	1	0
PRKCI	5584	broad.mit.edu	37	3	170011186	170011186	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:170011186G>T	ENST00000295797.4	+	14	1612	c.1307G>T	c.(1306-1308)tGg>tTg	p.W436L		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	436	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AGTGTTGACTGGTGGGCTCTT	0.378000													30	88					5.45727e-16	1.11665e-15	0.008361	1	0
OR56A4	120793	broad.mit.edu	37	11	6023798	6023798	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:6023798T>A	ENST00000330728.4	-	1	626	c.581A>T	c.(580-582)cAg>cTg	p.Q194L		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCCACAAACTGGTCAGTGAT	0.498000													4	19					0	0	0.000602	0	0
GPC6	10082	broad.mit.edu	37	13	95055406	95055406	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:95055406G>T	ENST00000377047.4	+	9	2218	c.1603G>T	c.(1603-1605)Ggc>Tgc	p.G535C		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	535						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AGCCCAGCGTGGCCACTCCCT	0.557000													7	46					2.7689e-08	4.28599e-08	0.001984	1	0
ELL2	22936	broad.mit.edu	37	5	95234453	95234453	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:95234453T>A	ENST00000237853.4	-	8	1365	c.1016A>T	c.(1015-1017)cAc>cTc	p.H339L	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	339					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		GTTCGTCAGGTGAGATATTCG	0.478000													37	220					0	0	0.003610	0	0
ZNF774	342132	broad.mit.edu	37	15	90904514	90904514	+	Nonstop_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:90904514A>T	ENST00000354377.3	+	4	1637	c.1451A>T	c.(1450-1452)tAg>tTg	p.*484L	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CATTTGATTTAGGAAGTAGTC	0.428000													23	91					0	0	0.002780	0	0
RXFP2	122042	broad.mit.edu	37	13	32360703	32360703	+	Splice_Site	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:32360703G>C	ENST00000298386.2	+	13	1073	c.1001_splice	c.e13-1	p.L334_splice	RXFP2_ENST00000380314.1_Splice_Site_p.L310_splice	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	334						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AAAAAAAAAGGAACCTGTCAT	0.299000													10	55					0	0	0.008291	0	0
RABEP2	79874	broad.mit.edu	37	16	28920049	28920049	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:28920049C>A	ENST00000358201.4	-	8	1714	c.1126G>T	c.(1126-1128)Gag>Tag	p.E376*	RABEP2_ENST00000544477.1_Nonsense_Mutation_p.E305*|RABEP2_ENST00000357573.6_Nonsense_Mutation_p.E344*	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	376					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CGCTTTACCTCATGGTGCAGG	0.607000													29	129					7.11191e-15	1.41236e-14	0.002836	1	0
GPR62	118442	broad.mit.edu	37	3	51989833	51989833	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:51989833C>G	ENST00000322241.4	+	1	504	c.165C>G	c.(163-165)tgC>tgG	p.C55W		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	55						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCACCTGTGCGTCGTGGACC	0.771000													2	1					0	0	0.004672	0	0
MYH13	8735	broad.mit.edu	37	17	10247254	10247254	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:10247254C>A	ENST00000418404.3	-	15	1920	c.1757G>T	c.(1756-1758)gGc>gTc	p.G586V	MYH13_ENST00000252172.4_Missense_Mutation_p.G586V|MYH13_ENST00000570743.1_Missense_Mutation_p.G586V			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	586	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTCCACGGTGCCGGCATAGTG	0.552000													48	36					2.0833e-19	4.45682e-19	0.003610	1	0
MC5R	4161	broad.mit.edu	37	18	13826611	13826611	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:13826611C>T	ENST00000324750.3	+	1	1069	c.847C>T	c.(847-849)Ctc>Ttc	p.L283F		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	283					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GTACCTCATACTCATCATGTG	0.473000													20	116					0	0	0.001882	0	0
LRP1B	53353	broad.mit.edu	37	2	141571322	141571322	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:141571322C>T	ENST00000389484.3	-	32	6234	c.5263G>A	c.(5263-5265)Gga>Aga	p.G1755R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1755					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTATGGTTCCATTCCCTGAA	0.338000										TSP Lung(27;0.18)			7	82					0	0	0.004482	0	0
ROBO2	6092	broad.mit.edu	37	3	77684114	77684114	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:77684114C>A	ENST00000461745.1	+	24	4754	c.3854C>A	c.(3853-3855)cCt>cAt	p.P1285H	ROBO2_ENST00000332191.8_Missense_Mutation_p.P1346H|ROBO2_ENST00000487694.3_Missense_Mutation_p.P1301H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1285					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGTCAGAGGCCTCGGCCCACT	0.493000													21	42					4.35082e-09	7.02929e-09	0.010504	1	0
CYP2E1	1571	broad.mit.edu	37	10	135341025	135341025	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:135341025C>T	ENST00000463117.2	+	3	398	c.126C>T	c.(124-126)atC>atT	p.I42I	AL161645.2_ENST00000599428.1_Intron|CYP2E1_ENST00000252945.3_Silent_p.I42I|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	42					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TTCCCATCATCGGGAACCTCT	0.537000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				14	104					0	0	0.004990	0	0
OTOGL	283310	broad.mit.edu	37	12	80752552	80752552	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:80752552T>A	ENST00000458043.2	+	50	6202	c.6196T>A	c.(6196-6198)Tgt>Agt	p.C2066S	OTOGL_ENST00000547103.1_Missense_Mutation_p.C2054S|OTOGL_ENST00000546620.1_Missense_Mutation_p.C85S	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AACATGGCACTGTGGTAACTA	0.308000													3	34					0	0	0.004672	0	0
PCNXL3	399909	broad.mit.edu	37	11	65402565	65402565	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:65402565G>T	ENST00000355703.3	+	30	5466	c.4927G>T	c.(4927-4929)Gtt>Ttt	p.V1643F		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1643						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGCGCCTGGGGTTCGCATGGC	0.647000													7	23					2.0095e-06	2.78777e-06	0.001984	1	0
NUAK1	9891	broad.mit.edu	37	12	106460709	106460709	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:106460709C>A	ENST00000261402.2	-	7	3236	c.1857G>T	c.(1855-1857)cgG>cgT	p.R619R		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	619							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GGGGCCGGGGCCGGTTCTGGA	0.602000													10	52					7.03913e-09	1.11633e-08	0.001368	1	0
PDZRN3	23024	broad.mit.edu	37	3	73432828	73432828	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:73432828C>T	ENST00000263666.4	-	10	3003	c.2889G>A	c.(2887-2889)gcG>gcA	p.A963A	PDZRN3_ENST00000479530.1_Silent_p.A680A|PDZRN3_ENST00000535920.1_Silent_p.A685A|PDZRN3_ENST00000462146.2_Silent_p.A620A|PDZRN3_ENST00000466780.1_Silent_p.A620A	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	963							ubiquitin-protein ligase activity|zinc ion binding	p.A963A(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCTCGCTCACCGCGTCGTCGT	0.672000													12	78					0	0	0.001368	0	0
LRRC30	339291	broad.mit.edu	37	18	7231610	7231610	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:7231610C>A	ENST00000383467.2	+	1	488	c.474C>A	c.(472-474)tgC>tgA	p.C158*		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	158										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCCCTGCATGCTTCGCCGACC	0.557000													12	39					0.00136819	0.00157657	0.001368	1	0
CC2D1B	200014	broad.mit.edu	37	1	52823569	52823569	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:52823569C>A	ENST00000371586.2	-	14	1619	c.1481G>T	c.(1480-1482)gGt>gTt	p.G494V	CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Splice_Site_p.G488_splice	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	494										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						TGGGGGCTCACCCTGCAGGTG	0.612000													5	55					1.23904e-05	1.63414e-05	0.000602	1	0
KMT2C	58508	broad.mit.edu	37	7	151878270	151878270	+	Silent	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:151878270T>A	ENST00000355193.2	-	36	6893	c.6675A>T	c.(6673-6675)ccA>ccT	p.P2225P	KMT2C_ENST00000262189.6_Silent_p.P2225P					lysine (K)-specific methyltransferase 2C																		TCCTTGGCCTTGGTGTTGCTG	0.488000													20	56					0	0	0.008871	0	0
SRSF11	9295	broad.mit.edu	37	1	70716187	70716187	+	Splice_Site	SNP	G	G	C	rs113693205		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:70716187G>C	ENST00000370950.3	+	12	1339		c.e12+1		SRSF11_ENST00000370949.1_Splice_Site|SRSF11_ENST00000370951.1_Splice_Site|SRSF11_ENST00000484162.1_Splice_Site|SRSF11_ENST00000405432.1_Splice_Site			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11						mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			large_intestine(3)|ovary(2)|skin(1)	6						AGATGTAAAAGTATGTTTACA	0.318000													5	106					0	0	0.000602	0	0
QSER1	79832	broad.mit.edu	37	11	32955433	32955433	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:32955433G>T	ENST00000399302.2	+	4	2577	c.2242G>T	c.(2242-2244)Gta>Tta	p.V748L	QSER1_ENST00000527788.1_Missense_Mutation_p.V509L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	748	Gln-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TTTAGGTCAAGTAAAGGCATC	0.423000													20	131					6.33239e-15	1.26079e-14	0.010504	1	0
TEX35	84066	broad.mit.edu	37	1	178489873	178489873	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:178489873C>A	ENST00000367641.3	+	7	466	c.407C>A	c.(406-408)cCa>cAa	p.P136Q	TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000367643.3_Missense_Mutation_p.P136Q|TEX35_ENST00000319416.2_Missense_Mutation_p.P136Q|TEX35_ENST00000258298.2_Missense_Mutation_p.P60Q|TEX35_ENST00000367639.1_Missense_Mutation_p.P144Q					testis expressed 35																		CACAGAGAACCACAGCTCAGG	0.552000													11	20					0.00244969	0.00277334	0.002450	1	0
RANBP6	26953	broad.mit.edu	37	9	6013036	6013036	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:6013036A>G	ENST00000259569.5	-	1	2582	c.2572T>C	c.(2572-2574)Ttt>Ctt	p.F858L		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	858					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TAAGTACTAAATAATGAGTGC	0.343000													18	41					0	0	0.004990	0	0
PIK3R4	30849	broad.mit.edu	37	3	130437272	130437272	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:130437272C>A	ENST00000356763.3	-	8	2645	c.2088G>T	c.(2086-2088)atG>atT	p.M696I		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	696					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CAAGATAAGGCATCAGTTTAC	0.398000													25	183					1.26454e-06	1.79115e-06	0.005443	1	0
HOXD10	3236	broad.mit.edu	37	2	176982218	176982218	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:176982218C>A	ENST00000249501.4	+	1	912	c.657C>A	c.(655-657)ccC>ccA	p.P219P	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	219						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TGGAGAGCCCCGAGGCCAAAG	0.627000													11	35					9.31168e-06	1.24826e-05	0.001855	1	0
MSANTD3	91283	broad.mit.edu	37	9	103213226	103213226	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:103213226G>T	ENST00000395067.2	+	3	1077	c.806G>T	c.(805-807)cGg>cTg	p.R269L	MSANTD3-TMEFF1_ENST00000502978.1_Intron|MSANTD3_ENST00000489377.1_3'UTR|TMEFF1_ENST00000334943.6_Intron	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1			Myb/SANT-like DNA-binding domain containing 3											endometrium(2)|lung(2)	4						TCATTTAACCGGCCCTTTCCC	0.418000													19	67					1.50039e-11	2.70909e-11	0.001882	1	0
BAIAP3	8938	broad.mit.edu	37	16	1394978	1394978	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:1394978G>T	ENST00000324385.5	+	21	2081	c.1923G>T	c.(1921-1923)gaG>gaT	p.E641D	BAIAP3_ENST00000397488.2_Missense_Mutation_p.E623D|BAIAP3_ENST00000421665.2_Missense_Mutation_p.E570D|BAIAP3_ENST00000568887.1_Missense_Mutation_p.E578D|BAIAP3_ENST00000426824.3_Missense_Mutation_p.E606D|BAIAP3_ENST00000562208.1_Missense_Mutation_p.E583D|BAIAP3_ENST00000397489.1_Missense_Mutation_p.E623D	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	641					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				AGGTGGCTGAGGAGGCGTGGG	0.652000													7	37					1.76689e-08	2.75422e-08	0.006214	1	0
ZNF512B	57473	broad.mit.edu	37	20	62599243	62599243	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:62599243C>G	ENST00000450537.1	-	2	121	c.61G>C	c.(61-63)Ggg>Cgg	p.G21R	ZNF512B_ENST00000369888.1_Missense_Mutation_p.G21R|ZNF512B_ENST00000217130.3_Missense_Mutation_p.G21R			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCATCCTTCCCGGGACCACTC	0.582000													19	91					0	0	0.007413	0	0
LCE1F	353137	broad.mit.edu	37	1	152748872	152748872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:152748872C>T	ENST00000334371.2	+	1	25	c.25C>T	c.(25-27)Cag>Tag	p.Q9*		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	9					keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCAGCAGCAGTGCCAGCC	0.617000													11	40					0	0	0.001368	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													6	28					0	0	0.001984	0	0
EDAR	10913	broad.mit.edu	37	2	109545792	109545792	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:109545792G>T	ENST00000409271.1	-	5	661	c.218C>A	c.(217-219)cCc>cAc	p.P73H	EDAR_ENST00000376651.1_Missense_Mutation_p.P73H|EDAR_ENST00000258443.2_Missense_Mutation_p.P73H			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	73					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CGCCGGGCAGGGGACGCAGCC	0.602000													7	46					0.00198382	0.00225084	0.001984	1	0
SORCS3	22986	broad.mit.edu	37	10	106982880	106982880	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:106982880T>A	ENST00000369701.3	+	20	2968	c.2741T>A	c.(2740-2742)gTg>gAg	p.V914E	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	914	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTAGGTCCTGTGGAGCATGTT	0.423000													20	100					0	0	0.001882	0	0
RYR1	6261	broad.mit.edu	37	19	38980057	38980057	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:38980057A>T	ENST00000355481.4	+	35	5919	c.5788A>T	c.(5788-5790)Aag>Tag	p.K1930*	RYR1_ENST00000359596.3_Nonsense_Mutation_p.K1930*|RYR1_ENST00000360985.3_Nonsense_Mutation_p.K1930*	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1930	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTCCAGATGAAGTTGCCAGA	0.542000													22	54					0	0	0.003330	0	0
SEC24C	9632	broad.mit.edu	37	10	75519922	75519922	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:75519922G>T	ENST00000339365.2	+	6	790	c.628G>T	c.(628-630)Gcc>Tcc	p.A210S	SEC24C_ENST00000411652.2_Missense_Mutation_p.A68S|SEC24C_ENST00000546025.1_Missense_Mutation_p.A68S|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.A210S	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	210					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CCCATCACAGGCCTCCAGCTT	0.627000													14	94					0.00316338	0.00356052	0.003163	1	0
USP32	84669	broad.mit.edu	37	17	58300927	58300927	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:58300927G>T	ENST00000300896.4	-	14	1647	c.1453C>A	c.(1453-1455)Cca>Aca	p.P485T	USP32_ENST00000592339.1_Missense_Mutation_p.P155T	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	485	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCTGCCCCTGGTGTGGCAGAA	0.388000													50	56					1.72184e-34	3.94471e-34	0.003610	1	0
PDZRN3	23024	broad.mit.edu	37	3	73439018	73439018	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:73439018G>T	ENST00000263666.4	-	7	1479	c.1365C>A	c.(1363-1365)aaC>aaA	p.N455K	PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000479530.1_Missense_Mutation_p.N172K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.N177K|PDZRN3_ENST00000462146.2_Missense_Mutation_p.N112K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.N112K	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	455	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTGCAATGCTGTTAGGGTCAA	0.463000													19	72					5.35267e-07	7.70129e-07	0.007413	1	0
SRRM2	23524	broad.mit.edu	37	16	2813641	2813641	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:2813641G>T	ENST00000301740.8	+	11	3661	c.3112G>T	c.(3112-3114)Gga>Tga	p.G1038*		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1038	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCTCTGTGCAGGAGTAAAATC	0.478000													30	104					1.55811e-20	3.4085e-20	0.008361	1	0
TRIM24	8805	broad.mit.edu	37	7	138223420	138223420	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:138223420C>T	ENST00000343526.4	+	7	1230	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.R339C			O15164	TIF1A_HUMAN	tripartite motif containing 24	339					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						AAAGGACCATCGCATGAAACT	0.388000													34	111					0	0	0.004878	0	0
COL9A1	1297	broad.mit.edu	37	6	70942429	70942429	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:70942429C>A	ENST00000357250.6	-	36	2518	c.2360G>T	c.(2359-2361)gGt>gTt	p.G787V	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.G544V|COL9A1_ENST00000370499.4_Missense_Mutation_p.G544V|RP1-149L1.1_ENST00000522264.1_RNA	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	787	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCCAGTGGCACCTGAGTCTGG	0.527000													12	32					6.40141e-05	8.07202e-05	0.000978	1	0
TMEM132E	124842	broad.mit.edu	37	17	32955606	32955606	+	Silent	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:32955606C>G	ENST00000321639.5	+	4	1081	c.753C>G	c.(751-753)acC>acG	p.T251T		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	251						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		AGGGTGTGACCCTTTTAGGTA	0.597000													6	17					0	0	0.001168	0	0
FECH	2235	broad.mit.edu	37	18	55247313	55247313	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:55247313C>A	ENST00000262093.5	-	2	337	c.186G>T	c.(184-186)ccG>ccT	p.P62P	FECH_ENST00000585699.1_Intron|FECH_ENST00000382873.3_Silent_p.P62P	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	62			P -> R (in EPP).		generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				ACCTCTTCTGCGGTTGAACTT	0.522000													13	118					5.50884e-06	7.41685e-06	0.001368	1	0
SYNE2	23224	broad.mit.edu	37	14	64473827	64473827	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:64473827A>C	ENST00000358025.3	+	31	4694	c.4464A>C	c.(4462-4464)caA>caC	p.Q1488H	SYNE2_ENST00000554584.1_Missense_Mutation_p.Q1488H|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.Q1488H	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1488					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)		GACATTTACAAGAAATGGCTA	0.353000													38	177					0	0	0.004878	0	0
FAT3	120114	broad.mit.edu	37	11	92526143	92526143	+	Splice_Site	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:92526143G>C	ENST00000298047.6	+	8	4839	c.4822_splice	c.e8+1	p.G1608_splice	FAT3_ENST00000409404.2_Splice_Site_p.G1608_splice|FAT3_ENST00000525166.1_Splice_Site_p.G1458_splice			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1608	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATAGAAGCAGGTGAGAGCTG	0.428000										TCGA Ovarian(4;0.039)			10	35					0	0	0.006214	0	0
MAP3K6	9064	broad.mit.edu	37	1	27687455	27687455	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:27687455G>A	ENST00000493901.1	-	15	2116	c.1877C>T	c.(1876-1878)aCg>aTg	p.T626M	MAP3K6_ENST00000357582.2_Missense_Mutation_p.T626M|MAP3K6_ENST00000374040.3_Missense_Mutation_p.T618M	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	626					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGCGGGCGCCGTGGAATCCGG	0.721000													3	10					0	0	0.009096	0	0
STIL	6491	broad.mit.edu	37	1	47746264	47746264	+	Silent	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:47746264T>A	ENST00000360380.3	-	13	2229	c.1866A>T	c.(1864-1866)ggA>ggT	p.G622G	STIL_ENST00000396221.2_Silent_p.G622G|STIL_ENST00000371877.3_Silent_p.G622G|STIL_ENST00000337817.5_Silent_p.G622G|STIL_ENST00000243182.6_Silent_p.G622G			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	622	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CTGTGTTTGCTCCTTGCCAAG	0.438000													48	193					0	0	0.003610	0	0
SRPX	8406	broad.mit.edu	37	X	38019325	38019325	+	Silent	SNP	A	A	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:38019325A>C	ENST00000378533.3	-	7	1006	c.900T>G	c.(898-900)ccT>ccG	p.P300P	SRPX_ENST00000343800.6_Silent_p.P287P|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_Silent_p.P241P|SRPX_ENST00000544439.1_Silent_p.P280P|SRPX_ENST00000538295.1_Silent_p.P300P|SRPX_ENST00000479015.1_5'UTR	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	300	Sushi 3.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						ATACTCGGGCAGGGCTACCCT	0.587000													5	12					0	0	0.000602	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33683993	33683993	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:33683993C>A	ENST00000504830.1	-	4	1137	c.802G>T	c.(802-804)Gag>Tag	p.E268*	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.E268*|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	268	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATGTAGGACTCCACATTCTCA	0.483000										HNSCC(64;0.19)			19	141					2.89027e-11	5.15265e-11	0.002299	1	0
GUCY1B3	2983	broad.mit.edu	37	4	156711052	156711052	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:156711052A>G	ENST00000264424.8	+	5	566	c.484A>G	c.(484-486)Ata>Gta	p.I162V	GUCY1B3_ENST00000505154.1_Missense_Mutation_p.I94V|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.I94V|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.I142V|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.I162V|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.I94V|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.I184V	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	162					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TGGCACTGAAATAGACATGAA	0.368000													5	97					0	0	0.001168	0	0
GPR158	57512	broad.mit.edu	37	10	25887422	25887422	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:25887422C>G	ENST00000376351.3	+	11	3226	c.2867C>G	c.(2866-2868)cCt>cGt	p.P956R	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	956						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACTAAAGATCCTGCCCCCCAA	0.448000													27	135					0	0	0.008361	0	0
MOSPD2	158747	broad.mit.edu	37	X	14910924	14910924	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:14910924G>T	ENST00000380492.3	+	3	247	c.159G>T	c.(157-159)tgG>tgT	p.W53C	MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Missense_Mutation_p.W53C	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	53						integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					ACTTATCTTGGAGACATAATA	0.343000													25	40					2.39556e-15	4.82535e-15	0.002780	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885973	88885973	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:88885973C>A	ENST00000319675.3	-	1	323	c.227G>T	c.(226-228)cGc>cTc	p.R76L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	76										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CGCCAGTATGCGGTTAAATCG	0.542000													18	62					6.33239e-15	1.26079e-14	0.010504	1	0
L1TD1	54596	broad.mit.edu	37	1	62676939	62676939	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:62676939T>G	ENST00000498273.1	+	4	2788	c.2493T>G	c.(2491-2493)ttT>ttG	p.F831L		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	831										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						aaatggcatttgattttaggg	0.358000													9	24					0	0	0.004482	0	0
RHOB	388	broad.mit.edu	37	2	20647662	20647662	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:20647662G>T	ENST00000272233.4	+	1	828	c.436G>T	c.(436-438)Gcc>Tcc	p.A146S		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	146					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		TGACGGCCGCGCCATGGCCGT	0.657000													16	82					3.57192e-18	7.55805e-18	0.006122	1	0
KIAA1009	22832	broad.mit.edu	37	6	84862454	84862454	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:84862454C>A	ENST00000403245.3	-	23	3553	c.3439G>T	c.(3439-3441)Gct>Tct	p.A1147S	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.A1071S	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	1147					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		AAGGAGTTAGCATTTCCTTTA	0.403000													4	36					0.00909568	0.00995582	0.009096	1	0
SH2D3C	10044	broad.mit.edu	37	9	130536320	130536320	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:130536320G>A	ENST00000314830.8	-	2	577	c.464C>T	c.(463-465)cCc>cTc	p.P155L	SH2D3C_ENST00000471939.1_5'UTR	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	155					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTCTCCTGTGGGGACCTCAGG	0.587000													9	40					0	0	0.000978	0	0
CORO1C	23603	broad.mit.edu	37	12	109046123	109046123	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:109046123C>A	ENST00000261401.3	-	8	1098	c.926G>T	c.(925-927)aGc>aTc	p.S309I	CORO1C_ENST00000421578.2_Missense_Mutation_p.S204I|CORO1C_ENST00000420959.2_Missense_Mutation_p.S362I|CORO1C_ENST00000549772.1_Missense_Mutation_p.S315I|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Missense_Mutation_p.S309I	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	309					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	p.S309N(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						CTCCTTGCTGCTGAATGTGTT	0.463000													24	112					1.85244e-09	3.06959e-09	0.003330	1	0
TPP1	1200	broad.mit.edu	37	11	6637614	6637614	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:6637614T>C	ENST00000533371.1	-	7	1076	c.278A>G	c.(277-279)tAc>tGc	p.Y93C	TPP1_ENST00000299427.6_Missense_Mutation_p.Y336C			O14773	TPP1_HUMAN	tripeptidyl peptidase I	336					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		CCGCTGGATGTAGGCGCTGCT	0.562000													8	38					0	0	0.004482	0	0
KANK4	163782	broad.mit.edu	37	1	62734024	62734024	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:62734024C>T	ENST00000371153.4	-	5	2544	c.2166G>A	c.(2164-2166)gaG>gaA	p.E722E	KANK4_ENST00000354381.3_Silent_p.E94E|KANK4_ENST00000371150.1_Silent_p.E78E	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	722										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGCAGGTGCCCTCAGGGATGC	0.597000													10	36					0	0	0.000978	0	0
RBM43	375287	broad.mit.edu	37	2	152112121	152112121	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:152112121C>A	ENST00000331426.5	-	2	291	c.140G>T	c.(139-141)gGc>gTc	p.G47V		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	47	RRM.						nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		AACATCTCCGCCCTCATTCTT	0.368000													27	120					5.84002e-05	7.42448e-05	0.002445	1	0
EFCAB14	9813	broad.mit.edu	37	1	47173629	47173629	+	Silent	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:47173629T>A	ENST00000371933.3	-	3	1405	c.429A>T	c.(427-429)ggA>ggT	p.G143G	EFCAB14_ENST00000544071.1_Silent_p.G143G	NM_014774.2	NP_055589.1			EF-hand calcium binding domain 14																		AACCCATCTCTCCAGATTCAA	0.338000													24	96					0	0	0.004656	0	0
YTHDC2	64848	broad.mit.edu	37	5	112903395	112903395	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:112903395C>T	ENST00000161863.4	+	23	3306	c.3093C>T	c.(3091-3093)ccC>ccT	p.P1031P		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1031							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGGCACTGCCCACAGATTGGC	0.358000													8	49					0	0	0.006214	0	0
WDR38	401551	broad.mit.edu	37	9	127619792	127619792	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:127619792T>A	ENST00000373574.1	+	9	884	c.828T>A	c.(826-828)gaT>gaA	p.D276E		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	276										breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GAGTCCTGGATGTGGCCCACA	0.567000													8	33					0	0	0.006214	0	0
HARBI1	283254	broad.mit.edu	37	11	46625367	46625367	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:46625367C>A	ENST00000326737.3	-	3	1010	c.763G>T	c.(763-765)Gca>Tca	p.A255S		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	255						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CTGTGAGTTGCAGAATGGGCC	0.517000													10	34					0.000673444	0.000787716	0.008291	1	0
SLC6A2	6530	broad.mit.edu	37	16	55703525	55703525	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:55703525C>A	ENST00000379906.2	+	2	578	c.323C>A	c.(322-324)cCc>cAc	p.P108H	SLC6A2_ENST00000568943.1_Missense_Mutation_p.P108H|SLC6A2_ENST00000219833.8_Missense_Mutation_p.P108H|SLC6A2_ENST00000561820.1_Missense_Mutation_p.P108H|SLC6A2_ENST00000566163.1_Missense_Mutation_p.P108H|SLC6A2_ENST00000414754.3_Missense_Mutation_p.P108H	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	108					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GCGGGGATGCCCCTGTTCTAC	0.577000													11	40					1.58986e-06	2.22552e-06	0.008291	1	0
COL1A2	1278	broad.mit.edu	37	7	94049890	94049890	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:94049890G>T	ENST00000297268.6	+	37	2696	c.2225G>T	c.(2224-2226)gGa>gTa	p.G742V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	742			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGAGAAAGAGGAGCCAAAGGG	0.532000										HNSCC(75;0.22)			7	13					8.12818e-05	0.000100935	0.001984	1	0
BIN2	51411	broad.mit.edu	37	12	51675226	51675226	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:51675226T>C	ENST00000604560.1	-	11	1598	c.1586A>G	c.(1585-1587)cAg>cGg	p.Q529R	BIN2_ENST00000452142.2_3'UTR|BIN2_ENST00000267012.4_3'UTR|BIN2_ENST00000544402.1_3'UTR			Q9UBW5	BIN2_HUMAN	bridging integrator 2	0			N -> D (in dbSNP:rs7954976).			cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CTATACCCTCTGGTTGAAGAG	0.493000													9	30					0	0	0.006214	0	0
PCSK5	5125	broad.mit.edu	37	9	78848435	78848435	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:78848435A>T	ENST00000545128.1	+	22	3327	c.2789A>T	c.(2788-2790)aAc>aTc	p.N930I		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	631					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GAATTTGAGAACCAATGCCAT	0.507000													16	46					0	0	0.004990	0	0
SEMA4F	10505	broad.mit.edu	37	2	74901732	74901732	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:74901732G>T	ENST00000357877.2	+	8	1079	c.930G>T	c.(928-930)caG>caT	p.Q310H	SEMA4F_ENST00000339773.5_Missense_Mutation_p.Q155H	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	310	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GTGTCCTGCAGGATGTTGCTG	0.582000													26	114					1.04121e-07	1.56485e-07	0.005443	1	0
MYO3A	53904	broad.mit.edu	37	10	26465716	26465716	+	Silent	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:26465716G>C	ENST00000265944.5	+	31	4546	c.4380G>C	c.(4378-4380)ctG>ctC	p.L1460L	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1460					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CACTTTATCTGGGTGTCTCGC	0.363000													13	54					0	0	0.001855	0	0
PVRL3	25945	broad.mit.edu	37	3	110841084	110841084	+	Splice_Site	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:110841084A>G	ENST00000485303.1	+	4	1191	c.917_splice	c.e4+1	p.R306_splice	PVRL3_ENST00000319792.3_Splice_Site_p.R306_splice|PVRL3_ENST00000493615.1_Splice_Site_p.R283_splice	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	306	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TGTGTGGAGCAGGTAATGTTA	0.323000													5	43					0	0	0.001168	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209300	140209300	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:140209300G>T	ENST00000529310.1	+	1	1738	c.1624G>T	c.(1624-1626)Gtg>Ttg	p.V542L	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.V542M(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACGCGGGCGTGCCGCCTCT	0.692000													10	105					3.86212e-05	4.92206e-05	0.008291	1	0
POLR1A	25885	broad.mit.edu	37	2	86292455	86292455	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:86292455C>T	ENST00000263857.6	-	14	2378	c.2000G>A	c.(1999-2001)cGc>cAc	p.R667H	POLR1A_ENST00000409681.1_Missense_Mutation_p.R667H|POLR1A_ENST00000483538.1_5'UTR			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	667					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAGCTTCACGCGCCCCACTTT	0.517000													23	91					0	0	0.002780	0	0
ZNF16	7564	broad.mit.edu	37	8	146156606	146156606	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:146156606C>A	ENST00000276816.4	-	4	1753	c.1567G>T	c.(1567-1569)Ggg>Tgg	p.G523W	ZNF16_ENST00000394909.2_Missense_Mutation_p.G523W	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		AAGGTCTTCCCACACTCGTGG	0.567000													10	80					9.70103e-10	1.63015e-09	0.008291	1	0
BEND5	79656	broad.mit.edu	37	1	49202101	49202101	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:49202101C>A	ENST00000371833.3	-	5	1004	c.918G>T	c.(916-918)tgG>tgT	p.W306C	AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371838.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	306	BEN.									large_intestine(5)|lung(2)|skin(1)	8						CCTCATCAACCCAAATCCCGC	0.473000													10	109					7.48243e-07	1.06764e-06	0.006214	1	0
MASP1	5648	broad.mit.edu	37	3	186937996	186937996	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:186937996T>A	ENST00000337774.5	-	16	2352	c.1963A>T	c.(1963-1965)Aga>Tga	p.R655*		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	655	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCTCTTTCTCTATTCAGGGTC	0.537000											OREG0015972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	29					0	0	0.001855	0	0
SYNE1	23345	broad.mit.edu	37	6	152614770	152614770	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:152614770T>A	ENST00000367255.5	-	95	18566	c.17965A>T	c.(17965-17967)Agc>Tgc	p.S5989C	SYNE1_ENST00000341594.5_Missense_Mutation_p.S5601C|SYNE1_ENST00000265368.4_Missense_Mutation_p.S5989C|SYNE1_ENST00000356820.4_Missense_Mutation_p.S513C|SYNE1_ENST00000448038.1_Missense_Mutation_p.S5918C|SYNE1_ENST00000423061.1_Missense_Mutation_p.S5918C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5989					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGCTCTGGGCTCTCACTGAGT	0.502000										HNSCC(10;0.0054)			10	56					0	0	0.008291	0	0
C12orf66	144577	broad.mit.edu	37	12	64609492	64609492	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:64609492G>A	ENST00000311915.8	-	2	514	c.487C>T	c.(487-489)Ctt>Ttt	p.L163F	C12orf66_ENST00000398055.3_Missense_Mutation_p.L163F|C12orf66_ENST00000544871.1_Missense_Mutation_p.L110F			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	163										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						GCATCCAAAAGGCCAACGAGC	0.498000													3	34					0	0	0.004672	0	0
NALCN	259232	broad.mit.edu	37	13	101735162	101735162	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:101735162C>A	ENST00000251127.6	-	33	3844	c.3763G>T	c.(3763-3765)Gag>Tag	p.E1255*		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1255						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TACAGTACCTCCAGAACAAAG	0.483000													16	71					1.15088e-07	1.70163e-07	0.004007	1	0
ST3GAL1	6482	broad.mit.edu	37	8	134472091	134472091	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:134472091C>A	ENST00000319914.5	-	9	1966	c.939G>T	c.(937-939)acG>acT	p.T313T	ST3GAL1_ENST00000521180.1_Silent_p.T313T|ST3GAL1_ENST00000399640.2_Silent_p.T313T|ST3GAL1_ENST00000522652.1_Silent_p.T313T			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	313					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CGTGCACCCCCGTCTTGCGAA	0.572000													36	98					4.17593e-13	7.90827e-13	0.007835	1	0
XIRP2	129446	broad.mit.edu	37	2	168102045	168102045	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:168102045G>A	ENST00000409195.1	+	9	4232	c.4143G>A	c.(4141-4143)aaG>aaA	p.K1381K	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.K1159K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.K1381K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1206					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACATTCAGAAGGGAGATGTTA	0.353000													16	91					0	0	0.006122	0	0
NLRP11	204801	broad.mit.edu	37	19	56312967	56312967	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:56312967G>T	ENST00000443188.1	-	7	2852	c.2142C>A	c.(2140-2142)caC>caA	p.H714Q	NLRP11_ENST00000589093.1_Missense_Mutation_p.H714Q|NLRP11_ENST00000589824.2_Missense_Mutation_p.H660Q|NLRP11_ENST00000592953.1_Missense_Mutation_p.H615Q|NLRP11_ENST00000360133.3_Missense_Mutation_p.H660Q	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	714							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATGTGGGCTCGTGCAGGATGT	0.493000													27	66					3.73988e-18	7.89192e-18	0.006320	1	0
HAP1	9001	broad.mit.edu	37	17	39884526	39884526	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:39884526T>A	ENST00000393939.2	-	7	1136	c.1127A>T	c.(1126-1128)aAc>aTc	p.N376I	JUP_ENST00000540235.1_Intron|HAP1_ENST00000310778.5_Missense_Mutation_p.N376I|HAP1_ENST00000347901.4_Missense_Mutation_p.N376I|HAP1_ENST00000341193.5_Missense_Mutation_p.N384I			P54257	HAP1_HUMAN	huntingtin-associated protein 1	376	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCGTTCATAGTTTTCCAGCCT	0.657000													18	23					0	0	0.007413	0	0
COL12A1	1303	broad.mit.edu	37	6	75825563	75825563	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:75825563C>A	ENST00000322507.8	-	49	7943	c.7634G>T	c.(7633-7635)gGg>gTg	p.G2545V	COL12A1_ENST00000345356.6_Missense_Mutation_p.G1381V|COL12A1_ENST00000483888.2_Missense_Mutation_p.G2545V|COL12A1_ENST00000416123.2_Missense_Mutation_p.G2545V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2545	Nonhelical region (NC3).|TSP N-terminal.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGGGAAAGACCCTGACTCCAA	0.383000													42	141					5.04308e-16	1.03326e-15	0.006230	1	0
WBSCR28	135886	broad.mit.edu	37	7	73275531	73275531	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:73275531G>T	ENST00000320531.2	+	1	43	c.7G>T	c.(7-9)Gcc>Tcc	p.A3S		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	3						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				AGACATGGAGGCCCTTCCTCC	0.627000													10	46					0.000673444	0.000787716	0.008291	1	0
KCNT2	343450	broad.mit.edu	37	1	196254873	196254873	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:196254873C>A	ENST00000367433.5	-	22	2640	c.2539G>T	c.(2539-2541)Ggc>Tgc	p.G847C	KCNT2_ENST00000367431.4_Missense_Mutation_p.G797C|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.G871C			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	871						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAGTTAGAGCCTCTCTCCCGT	0.398000													22	16					3.83957e-06	5.24685e-06	0.002780	1	0
LOC101927060	101927060	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													3	35					0	0	0.009096	0	0
ITGA4	3676	broad.mit.edu	37	2	182360604	182360604	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:182360604G>C	ENST00000397033.2	+	14	1910	c.1480G>C	c.(1480-1482)Gtg>Ctg	p.V494L		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	494					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATGGCCTTCTGTGTGCATAGA	0.423000													22	137					0	0	0.002299	0	0
PIANP	196500	broad.mit.edu	37	12	6806547	6806547	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:6806547G>T	ENST00000534837.1	-	3	658	c.429C>A	c.(427-429)ccC>ccA	p.P143P	PIANP_ENST00000540656.1_Silent_p.P143P|PIANP_ENST00000320591.5_Silent_p.P143P	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein																		AGTCTGAGTTGGGGTGTGGGG	0.612000													11	47					0.00185496	0.00213272	0.001855	1	0
COL3A1	1281	broad.mit.edu	37	2	189859505	189859505	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:189859505G>T	ENST00000304636.3	+	20	1573	c.1403G>T	c.(1402-1404)gGa>gTa	p.G468V	COL3A1_ENST00000317840.5_Missense_Mutation_p.G468V	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	468	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G468E(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGCAAGGATGGATCACCTGGA	0.448000													11	65					7.03913e-09	1.11633e-08	0.001368	1	0
IGKV1D-13	28902	broad.mit.edu	37	2	90192981	90192981	+	RNA	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:90192981C>A	ENST00000390275.2	+	0	214																											GCTCCTGGGGCTTCTGCTGCT	0.542000													16	89					4.96729e-08	7.5458e-08	0.008871	1	0
C12orf40	283461	broad.mit.edu	37	12	40044048	40044048	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:40044048C>T	ENST00000324616.5	+	7	732	c.578C>T	c.(577-579)aCt>aTt	p.T193I	C12orf40_ENST00000398716.1_Missense_Mutation_p.T116I|C12orf40_ENST00000405531.3_Missense_Mutation_p.T193I	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	193										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CAGCGCAGTACTGTTAACTGT	0.274000													8	31					0	0	0.003080	0	0
HMCN1	83872	broad.mit.edu	37	1	186062712	186062712	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:186062712G>T	ENST00000271588.4	+	66	10336	c.10107G>T	c.(10105-10107)acG>acT	p.T3369T	HMCN1_ENST00000367492.2_Silent_p.T3369T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3369	Ig-like C2-type 32.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCACAGGGACGCCTCCACCAC	0.433000													8	81					5.18039e-06	7.04806e-06	0.003080	1	0
PSG11	5680	broad.mit.edu	37	19	43514152	43514152	+	Nonstop_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:43514152A>T	ENST00000401740.1	-	5	1109	c.1006T>A	c.(1006-1008)Tag>Aag	p.*336K	PSG11_ENST00000306322.7_Nonstop_Mutation_p.*214K|PSG11_ENST00000320078.7_Nonstop_Mutation_p.*336K|PSG11_ENST00000403486.1_Nonstop_Mutation_p.*214K			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	0					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CACGGCTGCTACGTTGGATTA	0.443000													11	51					0	0	0.001855	0	0
CCT7	10574	broad.mit.edu	37	2	73467590	73467590	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:73467590G>T	ENST00000539919.1	+	4	425	c.54G>T	c.(52-54)ggG>ggT	p.G18G	CCT7_ENST00000537131.1_Intron|CCT7_ENST00000258091.5_Silent_p.G62G|CCT7_ENST00000473786.1_Intron|CCT7_ENST00000540468.1_Intron|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000398422.2_Intron	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	62					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CTAATGATGGGGCCACAATTC	0.403000													9	45					3.86212e-05	4.92206e-05	0.008291	1	0
MUL1	79594	broad.mit.edu	37	1	20827289	20827289	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:20827289C>T	ENST00000264198.3	-	4	1089	c.953G>A	c.(952-954)gGg>gAg	p.G318E		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	318					activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		ACAAACGTGCCCACACTCCAG	0.592000													10	27					0	0	0.006214	0	0
TCERG1L	256536	broad.mit.edu	37	10	133106583	133106583	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:133106583C>T	ENST00000368642.4	-	3	646	c.561G>A	c.(559-561)ggG>ggA	p.G187G		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	187								p.G146G(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GCTTTTCATGCCCATGGAAAA	0.493000													6	36					0	0	0.003080	0	0
HSD3B1	3283	broad.mit.edu	37	1	120050201	120050201	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:120050201C>T	ENST00000235547.6	+	2	247	c.108C>T	c.(106-108)gtC>gtT	p.V36V	HSD3B1_ENST00000369413.3_Silent_p.V34V|HSD3B1_ENST00000528909.1_Silent_p.V34V	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	34					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	AGATCAGGGTCTTGGACAAGG	0.512000													14	58					0	0	0.004007	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76968605	76968605	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:76968605C>A	ENST00000262776.3	-	6	1119	c.811G>T	c.(811-813)Ggg>Tgg	p.G271W	LGALS3BP_ENST00000591778.1_Missense_Mutation_p.Q186H	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	271	BACK.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGGGCGTCCCCTGTGGCCACT	0.647000													18	37					0.000132079	0.000163361	0.008871	1	0
AK9	221264	broad.mit.edu	37	6	109962813	109962813	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:109962813T>A	ENST00000424296.2	-	10	917	c.841A>T	c.(841-843)Atg>Ttg	p.M281L	AK9_ENST00000285397.5_Missense_Mutation_p.M281L|AK9_ENST00000368948.2_Missense_Mutation_p.M281L|AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		AGTCGATCCATAACAATCTAG	0.358000													14	32					0	0	0.001855	0	0
PRG4	10216	broad.mit.edu	37	1	186276582	186276582	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:186276582C>A	ENST00000445192.2	+	7	1776	c.1731C>A	c.(1729-1731)gcC>gcA	p.A577A	PRG4_ENST00000367486.3_Silent_p.A534A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.A484A|PRG4_ENST00000367483.4_Silent_p.A536A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	577	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.A577A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AGAAGCCTGCCCCAACTACCC	0.647000													27	28					1.04121e-07	1.56485e-07	0.005443	1	0
KIAA1377	57562	broad.mit.edu	37	11	101834522	101834522	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:101834522C>T	ENST00000263468.8	+	6	3026	c.2756C>T	c.(2755-2757)cCg>cTg	p.P919L	KIAA1377_ENST00000537689.1_Missense_Mutation_p.P720L	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	919							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAAAGTTATCCGTCTGTGACT	0.403000													32	117					0	0	0.003271	0	0
MORC3	23515	broad.mit.edu	37	21	37721609	37721609	+	Splice_Site	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr21:37721609G>T	ENST00000400485.1	+	9	1082	c.1005_splice	c.e9-1	p.A336_splice	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	336					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						ATTTTTTCAGGCAAACAACAT	0.284000													28	39					2.65835e-16	5.48284e-16	0.007291	1	0
COL28A1	340267	broad.mit.edu	37	7	7493089	7493089	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:7493089C>A	ENST00000399429.3	-	17	1562	c.1422G>T	c.(1420-1422)caG>caT	p.Q474H		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	474					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CAGGTAAGCCCTGTCCTGCGG	0.398000													32	61					1.04594e-18	2.21922e-18	0.006230	1	0
CSMD2	114784	broad.mit.edu	37	1	34182023	34182023	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:34182023G>T	ENST00000373381.4	-	20	3256	c.3080C>A	c.(3079-3081)aCc>aAc	p.T1027N		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	987	CUB 6.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGGGGCTGGGTGAAGCTGCC	0.567000													6	24					0.00116845	0.00134841	0.001168	1	0
ZNF366	167465	broad.mit.edu	37	5	71756786	71756786	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:71756786C>A	ENST00000318442.5	-	2	1028	c.538G>T	c.(538-540)Gtc>Ttc	p.V180F		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CCCGGGTGGACTTTGGGGTAG	0.662000													25	105					4.59853e-10	7.78637e-10	0.005443	1	0
STK38L	23012	broad.mit.edu	37	12	27468245	27468245	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:27468245A>T	ENST00000389032.3	+	9	968	c.799A>T	c.(799-801)Agg>Tgg	p.R267W	STK38L_ENST00000539577.1_Missense_Mutation_p.R174W	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	267	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					GAACTCAAAGAGGAAAGCAGA	0.333000													8	48					0	0	0.006214	0	0
KRT84	3890	broad.mit.edu	37	12	52776827	52776827	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:52776827G>T	ENST00000257951.3	-	3	844	c.778C>A	c.(778-780)Cgg>Agg	p.R260R	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	260	Coil 1B.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCATTGGCCCGACATACCACT	0.502000													21	86					9.95505e-16	2.02363e-15	0.002299	1	0
ZNF678	339500	broad.mit.edu	37	1	227842107	227842107	+	Silent	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:227842107A>T	ENST00000343776.4	+	4	501	c.156A>T	c.(154-156)acA>acT	p.T52T	ZNF678_ENST00000397097.3_Silent_p.T107T|ZNF678_ENST00000498759.1_Intron			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	107					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				AAAAAGTGACACTGACAAGAC	0.358000													14	129					0	0	0.004007	0	0
REG3A	5068	broad.mit.edu	37	2	79385541	79385541	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:79385541C>A	ENST00000393878.1	-	3	498	c.244G>T	c.(244-246)Ggg>Tgg	p.G82W	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.G82W|REG3A_ENST00000409839.3_Missense_Mutation_p.G82W	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	82	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.G82W(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CCCTCAGCCCCACTGAGCACA	0.572000													11	45					4.68919e-08	7.14433e-08	0.008291	1	0
SKIL	6498	broad.mit.edu	37	3	170079032	170079032	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:170079032A>T	ENST00000458537.3	+	1	1622	c.913A>T	c.(913-915)Atg>Ttg	p.M305L	SKIL_ENST00000426052.2_Missense_Mutation_p.M285L|SKIL_ENST00000413427.2_Missense_Mutation_p.M305L|SKIL_ENST00000259119.4_Missense_Mutation_p.M305L	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	305					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GACGTTTGTGATGCATTCTCA	0.433000													22	88					0	0	0.001882	0	0
ALK	238	broad.mit.edu	37	2	29462643	29462643	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:29462643C>A	ENST00000389048.3	-	13	3164	c.2258G>T	c.(2257-2259)cGg>cTg	p.R753L	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	753					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCCGTGGGACCGCATCATGGT	0.592000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				4	28					0.000602214	0.000709753	0.000602	1	0
OR56A4	120793	broad.mit.edu	37	11	6024196	6024196	+	Silent	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:6024196A>G	ENST00000330728.4	-	1	228	c.183T>C	c.(181-183)acT>acC	p.T61T		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGACTGGGGCAGTGGAGTCAT	0.498000													8	33					0	0	0.003080	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517811	158517811	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:158517811G>T	ENST00000302617.3	-	1	84	c.85C>A	c.(85-87)Cag>Aag	p.Q29K		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AAGAGAAGCTGGAAGGCTGGT	0.458000													28	39					7.26314e-15	1.43505e-14	0.007291	1	0
SSR3	6747	broad.mit.edu	37	3	156266658	156266658	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:156266658C>A	ENST00000467789.1	-	3	454	c.395G>T	c.(394-396)aGg>aTg	p.R132M	SSR3_ENST00000496050.1_Intron|SSR3_ENST00000265044.2_Intron|SSR3_ENST00000463503.1_Intron|SSR3_ENST00000478842.1_Intron|SSR3_ENST00000476217.1_Intron			Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	120					cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding			endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAAGTACCCCCTTTTATGATG	0.338000													7	42					8.12818e-05	0.000100935	0.001984	1	0
OR4K15	81127	broad.mit.edu	37	14	20444458	20444458	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:20444458C>G	ENST00000305051.5	+	1	856	c.781C>G	c.(781-783)Cgc>Ggc	p.R261G		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261S(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCGAAGGCCCGCTCCACATT	0.458000													31	91					0	0	0.007291	0	0
KCNC4	3749	broad.mit.edu	37	1	110765720	110765720	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:110765720C>A	ENST00000369787.3	+	2	840	c.813C>A	c.(811-813)ttC>ttA	p.F271L	KCNC4_ENST00000438661.2_Missense_Mutation_p.F271L|KCNC4_ENST00000413138.3_Missense_Mutation_p.F271L|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	271					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCGTGCACTTCCGGCGGGAGG	0.582000													14	66					5.3912e-06	7.29647e-06	0.006122	1	0
PCDH11X	27328	broad.mit.edu	37	X	91518114	91518114	+	Splice_Site	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:91518114G>C	ENST00000373094.1	+	4	3961	c.3114_splice	c.e4-1	p.R1039_splice	PCDH11X_ENST00000406881.1_Splice_Site_p.R1039_splice|PCDH11X_ENST00000298274.8_Intron|PCDH11X_ENST00000504220.1_Splice_Site_p.R1039_splice|PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000361655.2_Intron	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1039					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTAAATCAGCGGAAATCTGAA	0.318000													3	4					0	0	0.009096	0	0
OR1G1	8390	broad.mit.edu	37	17	3030688	3030688	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:3030688G>A	ENST00000328890.2	-	1	187	c.158C>T	c.(157-159)aCt>aTt	p.T53I		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						ATGGAGTTGAGTGTCAGTAAT	0.512000													40	53					0	0	0.002522	0	0
SLC2A7	155184	broad.mit.edu	37	1	9063388	9063388	+	Missense_Mutation	SNP	C	C	A	rs150069373	by1000genomes	TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:9063388C>A	ENST00000400906.1	-	12	1509	c.1510G>T	c.(1510-1512)Gcc>Tcc	p.A504S		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	504						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCAGGAGAGGCTGTGGGAGGC	0.522000													6	55					0.00198382	0.00225084	0.001984	1	0
CD163	9332	broad.mit.edu	37	12	7647899	7647899	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:7647899T>C	ENST00000359156.4	-	6	1400	c.1198A>G	c.(1198-1200)Aga>Gga	p.R400G	CD163_ENST00000396620.3_Missense_Mutation_p.R400G|CD163_ENST00000541972.1_Missense_Mutation_p.R388G|CD163_ENST00000432237.2_Missense_Mutation_p.R400G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	400	SRCR 4.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCCCAGCCTCTGTCACACACC	0.507000													24	74					0	0	0.004656	0	0
OR10W1	81341	broad.mit.edu	37	11	58035000	58035000	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:58035000A>T	ENST00000395079.2	-	1	732	c.331T>A	c.(331-333)Tat>Aat	p.Y111N		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				TAGCGGTCATAGGCCATGGCA	0.532000													3	24					0	0	0.009096	0	0
KL	9365	broad.mit.edu	37	13	33629320	33629320	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:33629320G>T	ENST00000380099.3	+	3	1475	c.1467G>T	c.(1465-1467)ttG>ttT	p.L489F	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.L182F	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	489	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGATGTTGTTGCCAAAGTCTT	0.478000													21	119					4.35082e-09	7.02929e-09	0.010504	1	0
DCX	1641	broad.mit.edu	37	X	110653991	110653991	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:110653991C>A	ENST00000338081.3	-	1	383	c.212G>T	c.(211-213)aGc>aTc	p.S71I	DCX_ENST00000371993.2_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000356915.2_Intron|DCX_ENST00000488120.1_Intron|DCX_ENST00000496551.1_Intron	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	71					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CTGACAGTGGCTCCTATCAAA	0.438000													47	82					1.42923e-14	2.7989e-14	0.003610	1	0
SCD	6319	broad.mit.edu	37	10	102120518	102120518	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:102120518C>A	ENST00000370355.2	+	6	1289	c.908C>A	c.(907-909)tCc>tAc	p.S303Y		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	303					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TACCACCACTCCTTTCCCTAT	0.502000													18	90					6.44725e-10	1.08811e-09	0.002299	1	0
MYF6	4618	broad.mit.edu	37	12	81101590	81101590	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:81101590C>A	ENST00000228641.3	+	1	314	c.92C>A	c.(91-93)tCt>tAt	p.S31Y		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	31					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GCAGAAGGCTCTCCTTTGTAT	0.532000													17	61					3.32936e-07	4.83505e-07	0.006122	1	0
PCDHA10	56139	broad.mit.edu	37	5	140237858	140237858	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:140237858C>T	ENST00000307360.5	+	1	2225	c.2225C>T	c.(2224-2226)gCg>gTg	p.A742V	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCTAGCGCGGTGGGGAGC	0.682000													6	20					0	0	0.001168	0	0
NEO1	4756	broad.mit.edu	37	15	73593676	73593676	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:73593676A>C	ENST00000339362.5	+	29	4627	c.4180A>C	c.(4180-4182)Att>Ctt	p.I1394L	NEO1_ENST00000558964.1_Missense_Mutation_p.I1383L|NEO1_ENST00000560262.1_Missense_Mutation_p.I1341L|NEO1_ENST00000261908.6_Missense_Mutation_p.I1394L			Q92859	NEO1_HUMAN	neogenin 1	1394					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GAACCATCACATTCACTCAGT	0.572000													6	23					0	0	0.001168	0	0
ROCK1	6093	broad.mit.edu	37	18	18548810	18548810	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:18548810C>A	ENST00000399799.1	-	25	3866	c.2926G>T	c.(2926-2928)Gag>Tag	p.E976*		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	976	Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCTCCTTCTCCAGTTTATAT	0.299000													14	104					0.000308642	0.00036937	0.003163	1	0
ENPEP	2028	broad.mit.edu	37	4	111441439	111441439	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:111441439C>A	ENST00000265162.5	+	10	1986	c.1644C>A	c.(1642-1644)aaC>aaA	p.N548K		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	548					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTGTGCTTAACGTGAACGGTG	0.438000													31	54					1.61788e-16	3.34577e-16	0.002445	1	0
ATP9B	374868	broad.mit.edu	37	18	77104343	77104343	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:77104343G>T	ENST00000426216.2	+	21	2478	c.2461G>T	c.(2461-2463)Gac>Tac	p.D821Y	ATP9B_ENST00000543761.1_Missense_Mutation_p.D142Y|ATP9B_ENST00000307671.7_Missense_Mutation_p.D821Y	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	821					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CATATCTGGGGACTCTCTGGA	0.507000													4	16					0.00909568	0.00995582	0.009096	1	0
GDNF	2668	broad.mit.edu	37	5	37815991	37815991	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:37815991C>A	ENST00000326524.2	-	3	597	c.398G>T	c.(397-399)gGc>gTc	p.G133V	GDNF_ENST00000344622.4_Missense_Mutation_p.G107V|GDNF_ENST00000381826.4_Missense_Mutation_p.G124V|GDNF_ENST00000427982.1_Missense_Mutation_p.G150V|GDNF_ENST00000515058.1_Missense_Mutation_p.G107V	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	133					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					GGTTTCATAGCCCAGACCCAA	0.453000													61	94					5.73332e-34	1.31156e-33	0.003610	1	0
KCNH1	3756	broad.mit.edu	37	1	210977367	210977367	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:210977367C>T	ENST00000367007.4	-	8	1692	c.1523G>A	c.(1522-1524)cGa>cAa	p.R508Q	KCNH1_ENST00000271751.4_Missense_Mutation_p.R535Q	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	535					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ATCCATTACTCGCTCACTCAA	0.468000													22	67					0	0	0.002299	0	0
ZNF536	9745	broad.mit.edu	37	19	31039563	31039563	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:31039563A>T	ENST00000355537.3	+	4	3184	c.3037A>T	c.(3037-3039)Atg>Ttg	p.M1013L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1013					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AACGTCCTCCATGGAGCTCAT	0.582000													21	44					0	0	0.010504	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457809	110457809	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:110457809C>G	ENST00000378402.5	+	38	5815	c.5711C>G	c.(5710-5712)cCa>cGa	p.P1904R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1904	IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTGCTTATCCACCTTTGCTT	0.403000										HNSCC(38;0.096)			4	16					0	0	0.000602	0	0
PIP4K2B	8396	broad.mit.edu	37	17	36926734	36926734	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:36926734A>C	ENST00000269554.3	-	9	1605	c.1125T>G	c.(1123-1125)gaT>gaG	p.D375E		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	375	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TCTTCTTTGTATCGTATGGCG	0.537000													6	138					0	0	0.003080	0	0
OR4K14	122740	broad.mit.edu	37	14	20483179	20483179	+	Silent	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:20483179G>C	ENST00000305045.2	-	1	173	c.174C>G	c.(172-174)tcC>tcG	p.S58S		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGTACATAGGGGAGGAGTGCA	0.448000													5	24					0	0	0.000602	0	0
IGHV3-30	28439	broad.mit.edu	37	14	106791175	106791175	+	RNA	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:106791175C>G	ENST00000390613.2	-	0	260																											AGCCCCTTGCCTGGAGCCTGG	0.552000													11	35					0	0	0.005443	0	0
AXL	558	broad.mit.edu	37	19	41765522	41765522	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:41765522C>A	ENST00000301178.4	+	20	2588	c.2398C>A	c.(2398-2400)Cgg>Agg	p.R800R	AXL_ENST00000359092.3_Silent_p.R791R|AXL_ENST00000593513.1_Silent_p.R532R	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	800	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TACAGAGCTGCGGGAAGATTT	0.547000													23	32					3.08376e-08	4.75439e-08	0.003330	1	0
GDF5	8200	broad.mit.edu	37	20	34025201	34025201	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:34025201G>C	ENST00000374372.1	-	3	1011	c.508C>G	c.(508-510)Cac>Gac	p.H170D	GDF5_ENST00000374369.3_Missense_Mutation_p.H170D			P43026	GDF5_HUMAN	growth differentiation factor 5	170					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			ATGTACTCGTGGGGTGTGATG	0.632000													14	68					0	0	0.002450	0	0
MED21	9412	broad.mit.edu	37	12	27181376	27181376	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:27181376G>T	ENST00000282892.3	+	4	447	c.417G>T	c.(415-417)caG>caT	p.Q139H	MED21_ENST00000546323.1_Intron|MED21_ENST00000536503.1_3'UTR	NM_001271811.1|NM_004264.3	NP_001258740.1|NP_004255.2	Q13503	MED21_HUMAN	mediator complex subunit 21	139					positive regulation of transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|transcription coactivator activity					Colorectal(261;0.0847)					CCCATAGCCAGTCTCTTCCAG	0.433000													16	90					1.37285e-15	2.77976e-15	0.004007	1	0
TMF1	7110	broad.mit.edu	37	3	69084217	69084217	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:69084217C>A	ENST00000543976.1	-	9	2456	c.2210G>T	c.(2209-2211)aGa>aTa	p.R737I	CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.R734I|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	734					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		ATCCTCCTTTCTGGCAGCCGC	0.423000													62	156					1.79293e-35	4.11367e-35	0.003610	1	0
DBT	1629	broad.mit.edu	37	1	100661970	100661970	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:100661970G>A	ENST00000370132.3	-	11	1303	c.1290C>T	c.(1288-1290)ccC>ccT	p.P430P		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	430					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		GGTTAAATCGGGGAATGGCCT	0.358000													12	52					0	0	0.001368	0	0
COMMD7	149951	broad.mit.edu	37	20	31294516	31294516	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:31294516G>A	ENST00000446419.1	-	4	901	c.285C>T	c.(283-285)ttC>ttT	p.F95F	COMMD7_ENST00000278980.6_Silent_p.F96F	NM_001099339.1	NP_001092809.1	Q86VX2	COMD7_HUMAN	COMM domain containing 7	96					negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding			breast(1)|endometrium(1)|lung(3)	5						CCAGAGTTATGAAATCCGCCT	0.478000													13	41					0	0	0.001855	0	0
PADI3	51702	broad.mit.edu	37	1	17575676	17575676	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:17575676C>A	ENST00000375460.3	+	1	84	c.44C>A	c.(43-45)aCc>aAc	p.T15N		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	15					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GAGCATCCCACCAGCGCGGTG	0.607000													16	57					1.78486e-19	3.82894e-19	0.007413	1	0
GPR112	139378	broad.mit.edu	37	X	135426738	135426738	+	Silent	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:135426738T>C	ENST00000394143.1	+	6	1164	c.873T>C	c.(871-873)tcT>tcC	p.S291S	GPR112_ENST00000412101.1_Silent_p.S86S|GPR112_ENST00000394141.1_Silent_p.S86S|GPR112_ENST00000370652.1_Silent_p.S291S|GPR112_ENST00000287534.4_Silent_p.S228S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	291					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATACAACATCTCCACCTCTGG	0.363000													31	51					0	0	0.002096	0	0
FBXL4	26235	broad.mit.edu	37	6	99374599	99374599	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:99374599C>A	ENST00000369244.2	-	4	694	c.266G>T	c.(265-267)gGt>gTt	p.G89V	FBXL4_ENST00000229971.1_Missense_Mutation_p.G89V			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	89					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		AGTAAAGTCACCAGAACTTGG	0.428000													21	91					1.2644e-06	1.79115e-06	0.010504	1	0
AKR1D1	6718	broad.mit.edu	37	7	137792239	137792239	+	Silent	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:137792239T>A	ENST00000242375.3	+	7	810	c.768T>A	c.(766-768)gcT>gcA	p.A256A	AKR1D1_ENST00000432161.1_Silent_p.A256A|AKR1D1_ENST00000411726.2_Silent_p.A215A|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	256					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						AGACAGCAGCTCAAATTGTTT	0.368000													56	119					0	0	0.003610	0	0
KCNJ10	3766	broad.mit.edu	37	1	160012317	160012317	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:160012317C>A	ENST00000368089.3	-	2	232	c.6G>T	c.(4-6)acG>acT	p.T2T		NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	2						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGCAACTGACGTCATCTGGA	0.517000													5	42					0.000602214	0.000709753	0.000602	1	0
SYCN	342898	broad.mit.edu	37	19	39694569	39694569	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:39694569G>T	ENST00000318438.6	-	1	337	c.326C>A	c.(325-327)cCg>cAg	p.P109Q		NM_001080468.2	NP_001073937.1	Q0VAF6	SYCN_HUMAN	syncollin	109					exocytosis	transport vesicle membrane				endometrium(1)|kidney(1)	2	all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454)		Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTCCAGGCGCGGGTAGGTGCC	0.682000													5	12					5.9392e-07	8.52935e-07	0.001168	1	0
ABLIM2	84448	broad.mit.edu	37	4	8079423	8079423	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:8079423C>A	ENST00000296372.8	-	6	749	c.607G>T	c.(607-609)Gac>Tac	p.D203Y	ABLIM2_ENST00000428004.2_Missense_Mutation_p.D203Y|ABLIM2_ENST00000407564.3_Missense_Mutation_p.D203Y|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000545242.1_Missense_Mutation_p.D203Y|ABLIM2_ENST00000361737.5_Missense_Mutation_p.D203Y|ABLIM2_ENST00000447017.2_Missense_Mutation_p.D203Y|ABLIM2_ENST00000505872.1_Missense_Mutation_p.D203Y|ABLIM2_ENST00000546334.1_Missense_Mutation_p.D203Y|ABLIM2_ENST00000361581.5_Missense_Mutation_p.D203Y|ABLIM2_ENST00000341937.5_Missense_Mutation_p.D203Y			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	203	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GCGTGATAGTCAGCTTCGCAG	0.627000													8	15					2.17888e-05	2.83272e-05	0.006214	1	0
KCNB2	9312	broad.mit.edu	37	8	73480016	73480016	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:73480016C>T	ENST00000523207.1	+	2	635	c.47C>T	c.(46-48)tCg>tTg	p.S16L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	16					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTTCAAGGTCGACACTTTCC	0.512000													19	100					0	0	0.007413	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135888250	135888250	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:135888250G>T	ENST00000264158.8	+	13	1238	c.1195G>T	c.(1195-1197)Gag>Tag	p.E399*	RAB3GAP1_ENST00000442034.1_Nonsense_Mutation_p.E399*|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Nonsense_Mutation_p.E355*	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	399						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AGGTGTAGAGGAGTCACCGCT	0.338000													9	55					3.86212e-05	4.92206e-05	0.008291	1	0
GRIP2	80852	broad.mit.edu	37	3	14564539	14564539	+	RNA	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:14564539C>A	ENST00000273083.3	-	0	599							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GCACGTAGGTCAGGACAAGCG	0.612000													29	62					1.71298e-08	2.68367e-08	0.003755	1	0
CES5A	221223	broad.mit.edu	37	16	55897283	55897283	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:55897283G>T	ENST00000521992.1	-	7	1019	c.874C>A	c.(874-876)Cat>Aat	p.H292N	CES5A_ENST00000290567.9_Missense_Mutation_p.H263N|CES5A_ENST00000319165.9_Missense_Mutation_p.H263N|CES5A_ENST00000520435.1_Missense_Mutation_p.H233N|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000518005.1_Missense_Mutation_p.H157N	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	263						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCATAATCATGGGCCTCCAGG	0.502000													18	86					4.63292e-17	9.68418e-17	0.008871	1	0
TRPC4	7223	broad.mit.edu	37	13	38225386	38225386	+	Splice_Site	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:38225386C>G	ENST00000379681.3	-	8	2329		c.e8+1		TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379705.3_Intron|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000447043.1_Intron	NM_001135955.1|NM_003306.1|NM_016179.2	NP_001129427.1|NP_003297.1|NP_057263.1	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4						axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GTAATACTAACATGCTGTGTT	0.333000													12	54					0	0	0.001368	0	0
TEP1	7011	broad.mit.edu	37	14	20851722	20851722	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:20851722G>T	ENST00000262715.5	-	26	3832	c.3792C>A	c.(3790-3792)atC>atA	p.I1264I	TEP1_ENST00000556935.1_Silent_p.I1156I	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1264	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCCCATCGATGATCAGGACCT	0.572000													4	28					0.00909568	0.00995582	0.009096	1	0
YWHAB	7529	broad.mit.edu	37	20	43530261	43530261	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:43530261G>A	ENST00000372839.3	+	3	361	c.87G>A	c.(85-87)aaG>aaA	p.K29K	YWHAB_ENST00000353703.4_Silent_p.K29K|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide	29					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				CAGCCATGAAGGCAGTCACAG	0.512000													15	54					0	0	0.004007	0	0
XIRP2	129446	broad.mit.edu	37	2	168102049	168102049	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:168102049G>T	ENST00000409195.1	+	9	4236	c.4147G>T	c.(4147-4149)Gat>Tat	p.D1383Y	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1161Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1383Y|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1208					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCAGAAGGGAGATGTTAGTTC	0.353000													16	90					1.02788e-11	1.8668e-11	0.004990	1	0
CHRD	8646	broad.mit.edu	37	3	184104519	184104519	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:184104519G>T	ENST00000204604.1	+	16	2418	c.2172G>T	c.(2170-2172)ccG>ccT	p.P724P	CHRD_ENST00000348986.3_Silent_p.P684P|CHRD_ENST00000450923.1_Silent_p.P724P|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	724	VWFC 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACTACGACCCGCTCTGCTCAC	0.672000													6	13					0.00116845	0.00134841	0.001168	1	0
EFCAB4B	84766	broad.mit.edu	37	12	3788164	3788164	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:3788164C>T	ENST00000440314.2	-	6	914	c.441G>A	c.(439-441)gaG>gaA	p.E147E	EFCAB4B_ENST00000252322.1_Silent_p.E147E|EFCAB4B_ENST00000444507.1_Silent_p.E147E	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	147					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CGCCCAGATCCTCATCCCCTC	0.532000													14	85					0	0	0.002450	0	0
TMEFF2	23671	broad.mit.edu	37	2	192818496	192818496	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:192818496C>A	ENST00000392314.1	-	9	1328	c.937G>T	c.(937-939)Ggt>Tgt	p.G313C	TMEFF2_ENST00000272771.5_Missense_Mutation_p.G313C|AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	313	Required for shedding.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CGTACAGGACCGGGAACAACG	0.438000													19	50					2.94398e-08	4.54793e-08	0.007413	1	0
ZNF579	163033	broad.mit.edu	37	19	56090052	56090052	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:56090052G>A	ENST00000325421.4	-	2	982	c.954C>T	c.(952-954)cgC>cgT	p.R318R		NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GGCCGTGGACGCGGCGGTGCT	0.741000													4	19					0	0	0.009096	0	0
UBR3	130507	broad.mit.edu	37	2	170937077	170937077	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:170937077G>A	ENST00000272793.5	+	38	5482	c.5432G>A	c.(5431-5433)gGa>gAa	p.G1811E	UBR3_ENST00000418381.1_Missense_Mutation_p.G1811E|UBR3_ENST00000392631.1_Missense_Mutation_p.G632E			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1811					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TGTGGTGCAGGAACAGGTATT	0.353000													4	34					0	0	0.009096	0	0
USP26	83844	broad.mit.edu	37	X	132159638	132159638	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:132159638G>T	ENST00000511190.1	-	6	3080	c.2611C>A	c.(2611-2613)Cag>Aag	p.Q871K	USP26_ENST00000406273.1_Missense_Mutation_p.Q871K|USP26_ENST00000370832.1_Missense_Mutation_p.Q871K	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	871					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTATCCTCCTGCATCTGGGCC	0.428000													16	31					3.41278e-10	5.83597e-10	0.004990	1	0
OR6T1	219874	broad.mit.edu	37	11	123813817	123813817	+	Silent	SNP	C	C	A	rs138335573		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:123813817C>A	ENST00000321252.2	-	1	763	c.729G>T	c.(727-729)tcG>tcT	p.S243S		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTGTAAGATGCGAGGCGCAAG	0.522000													10	53					2.17888e-05	2.83272e-05	0.006214	1	0
USH2A	7399	broad.mit.edu	37	1	216373209	216373209	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:216373209C>A	ENST00000366943.2	-	17	3957	c.3571G>T	c.(3571-3573)Ggt>Tgt	p.G1191C	USH2A_ENST00000366942.3_Missense_Mutation_p.G1191C|USH2A_ENST00000307340.3_Missense_Mutation_p.G1191C|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1191	Fibronectin type-III 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGCTGACCACCAGCCAAAGGG	0.458000										HNSCC(13;0.011)			34	76					2.04263e-09	3.38114e-09	0.004289	1	0
PTCHD4	442213	broad.mit.edu	37	6	47846231	47846231	+	Silent	SNP	T	T	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:47846231T>G	ENST00000339488.4	-	3	2382	c.2349A>C	c.(2347-2349)acA>acC	p.T783T		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	783						integral to membrane	hedgehog receptor activity										ATTTGAACAGTGTGAAGGTCA	0.453000													7	27					0	0	0.001984	0	0
PADI1	29943	broad.mit.edu	37	1	17555148	17555148	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:17555148G>T	ENST00000375471.4	+	7	773	c.681G>T	c.(679-681)caG>caT	p.Q227H		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	227					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ACTACAAACAGGTGCTGGGGC	0.577000													44	197					5.78141e-17	1.20686e-16	0.003214	1	0
SYK	6850	broad.mit.edu	37	9	93637033	93637033	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:93637033G>T	ENST00000375754.4	+	9	1231	c.1083G>T	c.(1081-1083)aaG>aaT	p.K361N	SYK_ENST00000375747.1_Missense_Mutation_p.K338N|SYK_ENST00000375746.1_Missense_Mutation_p.K361N|SYK_ENST00000375751.4_Missense_Mutation_p.K338N	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	361	Linker.				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						TCAGGCCCAAGGAGGTTTACC	0.527000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								36	172					1.36161e-19	2.93722e-19	0.004289	1	0
SOHLH1	402381	broad.mit.edu	37	9	138586226	138586226	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:138586226C>A	ENST00000298466.5	-	7	1013	c.953G>T	c.(952-954)tGg>tTg	p.W318L	SOHLH1_ENST00000425225.1_Intron	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	318					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CCCAGGGCCCCACTCACCCGG	0.642000													4	37					0.00909568	0.00995582	0.009096	1	0
GABRG2	2566	broad.mit.edu	37	5	161569237	161569237	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:161569237C>A	ENST00000356592.3	+	7	1297	c.837C>A	c.(835-837)acC>acA	p.T279T	GABRG2_ENST00000414552.2_Silent_p.T319T|GABRG2_ENST00000361925.4_Silent_p.T279T|GABRG2_ENST00000393933.4_Silent_p.T184T	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	279					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CCATCCAGACCTATATCCCCT	0.448000													33	154					5.90632e-09	9.41491e-09	0.002445	1	0
OR5M3	219482	broad.mit.edu	37	11	56237604	56237604	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:56237604T>A	ENST00000312240.2	-	1	410	c.370A>T	c.(370-372)Att>Ttt	p.I124F		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GGATTCCCAATTGCCATGTAT	0.398000													16	132					0	0	0.004007	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72036326	72036326	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:72036326T>A	ENST00000378743.3	-	6	1875	c.1517A>T	c.(1516-1518)gAc>gTc	p.D506V		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	506					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCGCCTCAGGTCAGGATCTGA	0.363000													25	140					0	0	0.004656	0	0
IL36B	27177	broad.mit.edu	37	2	113788647	113788647	+	Silent	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:113788647A>T	ENST00000259213.4	-	3	206	c.99T>A	c.(97-99)ccT>ccA	p.P33P	IL36B_ENST00000327407.2_Silent_p.P33P	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	33					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding	p.P33P(3)		kidney(1)|ovary(1)|pancreas(1)	3						TGCGGCTAAGAGGAGCTGCTA	0.493000													7	39					0	0	0.003080	0	0
MGAT3	4248	broad.mit.edu	37	22	39884213	39884213	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr22:39884213C>A	ENST00000341184.6	+	2	1076	c.861C>A	c.(859-861)atC>atA	p.I287I		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	287					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ACGGCTGGATCGCCGACGACT	0.647000													14	68					2.32078e-09	3.80903e-09	0.003163	1	0
HTR1A	3350	broad.mit.edu	37	5	63256798	63256798	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:63256798G>T	ENST00000323865.3	-	1	982	c.749C>A	c.(748-750)cCc>cAc	p.P250H	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	250					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ACTCTTCTTGGGCTGCGGGGC	0.642000													15	55					3.99206e-14	7.72994e-14	0.007413	1	0
ACSS3	79611	broad.mit.edu	37	12	81503375	81503375	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:81503375C>T	ENST00000548058.1	+	2	1258	c.348C>T	c.(346-348)gcC>gcT	p.A116A	ACSS3_ENST00000261206.3_Silent_p.A115A|RP11-543H12.1_ENST00000547123.1_RNA			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	116						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GTTACAATGCCGTTGATCGTC	0.328000													12	59					0	0	0.001368	0	0
AACS	65985	broad.mit.edu	37	12	125613888	125613888	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:125613888G>T	ENST00000545511.1	+	4	5157	c.170G>T	c.(169-171)cGg>cTg	p.R57L	AACS_ENST00000543665.1_5'UTR|AACS_ENST00000316519.6_Silent_p.A477A|AACS_ENST00000316543.10_Silent_p.A75A|AACS_ENST00000261686.6_Silent_p.A477A			Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	0					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CAGGAAAGGCGGTCTGGGGAG	0.512000													23	142					1.22574e-08	1.93794e-08	0.002299	1	0
MSGN1	343930	broad.mit.edu	37	2	17997962	17997962	+	Silent	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:17997962T>A	ENST00000281047.3	+	1	200	c.177T>A	c.(175-177)tcT>tcA	p.S59S		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	59					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATTCTTCTTCTCCCTGTCCAG	0.657000													12	58					0	0	0.001368	0	0
DSG3	1830	broad.mit.edu	37	18	29049078	29049078	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:29049078G>T	ENST00000257189.4	+	12	1746	c.1663G>T	c.(1663-1665)Gaa>Taa	p.E555*		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	555					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGAGCCCAGGAACAGATACC	0.473000													29	134					7.26314e-15	1.43505e-14	0.007291	1	0
ZNF518B	85460	broad.mit.edu	37	4	10445675	10445675	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:10445675C>G	ENST00000326756.3	-	3	2716	c.2278G>C	c.(2278-2280)Gtg>Ctg	p.V760L		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	760					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTCCTGGCCACTCTGCTTTTG	0.458000													7	72					0	0	0.001984	0	0
KCNG1	3755	broad.mit.edu	37	20	49626329	49626329	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:49626329C>T	ENST00000371571.4	-	2	832	c.547G>A	c.(547-549)Gag>Aag	p.E183K	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Missense_Mutation_p.E183K	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	183						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCCTCTTCCTCCCGCTCCACC	0.706000													6	33					0	0	0.001168	0	0
PPM1G	5496	broad.mit.edu	37	2	27607729	27607729	+	Silent	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:27607729T>A	ENST00000344034.4	-	5	900	c.636A>T	c.(634-636)acA>acT	p.T212T	PPM1G_ENST00000350803.4_Silent_p.T212T	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	212					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					AGGAAAAGCCTGTGTAGGCCT	0.592000													18	65					0	0	0.004990	0	0
LILRA1	11024	broad.mit.edu	37	19	55107735	55107735	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:55107735A>T	ENST00000251372.3	+	7	1222	c.1040A>T	c.(1039-1041)cAg>cTg	p.Q347L	LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	347	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGCTGTGTCAGTCATGGGGG	0.587000													17	33					0	0	0.006122	0	0
SPIN1	10927	broad.mit.edu	37	9	91083324	91083324	+	Silent	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:91083324A>T	ENST00000375859.3	+	5	671	c.393A>T	c.(391-393)acA>acT	p.T131T	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Silent_p.T131T	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	131					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						TGGCAGACACAATGATTGGCA	0.423000													10	48					0	0	0.008291	0	0
CAMTA1	23261	broad.mit.edu	37	1	7805999	7805999	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:7805999C>A	ENST00000303635.7	+	18	4672	c.4465C>A	c.(4465-4467)Ctt>Att	p.L1489I	CAMTA1_ENST00000476864.1_Missense_Mutation_p.L53I|CAMTA1_ENST00000439411.2_Missense_Mutation_p.L1475I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GAAACCTAACCTTCCCTCCGC	0.488000			T	WWTR1	epitheliod hemangioendothelioma								26	121					2.12542e-12	3.95266e-12	0.006320	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611431	84611431	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:84611431G>T	ENST00000286744.5	+	18	2425	c.2201G>T	c.(2200-2202)gGg>gTg	p.G734V	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G734V	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	734	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGCACCCAGGGGAGACCCCT	0.552000													13	63					2.27111e-07	3.32311e-07	0.001368	1	0
PDZRN3	23024	broad.mit.edu	37	3	73453360	73453360	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:73453360C>A	ENST00000263666.4	-	4	1219	c.1105G>T	c.(1105-1107)Gcc>Tcc	p.A369S	PDZRN3_ENST00000479530.1_Missense_Mutation_p.A86S|PDZRN3_ENST00000535920.1_Missense_Mutation_p.A91S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.A26S|PDZRN3_ENST00000466780.1_Missense_Mutation_p.A26S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	369							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTAGTGAGGGCCATGATATGT	0.498000													18	85					5.3912e-06	7.29647e-06	0.006122	1	0
DYTN	391475	broad.mit.edu	37	2	207564597	207564597	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:207564597G>T	ENST00000452335.2	-	7	689	c.573C>A	c.(571-573)atC>atA	p.I191I	DYTN_ENST00000477734.1_5'UTR	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	191						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TTTCTTCTTTGATTGCTGGGC	0.458000													6	30					3.59834e-05	4.61623e-05	0.001168	1	0
KIF5A	3798	broad.mit.edu	37	12	57960938	57960938	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:57960938G>T	ENST00000455537.2	+	7	805	c.531G>T	c.(529-531)ccG>ccT	p.P177P	KIF5A_ENST00000286452.5_Silent_p.P88P	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	177	Kinesin-motor.|Microtubule-binding.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TGTCCAGCCCGGAGGAGATTC	0.428000													24	108					1.75199e-13	3.34646e-13	0.007291	1	0
ZNF343	79175	broad.mit.edu	37	20	2465148	2465148	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:2465148C>A	ENST00000278772.4	-	6	946	c.459G>T	c.(457-459)caG>caT	p.Q153H	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GCTGCCCCTGCTGTTTCCAAT	0.502000													12	81					2.27111e-07	3.32311e-07	0.001368	1	0
BCL2L11	10018	broad.mit.edu	37	2	111921774	111921774	+	Missense_Mutation	SNP	G	G	T	rs150291943		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:111921774G>T	ENST00000393256.3	+	4	836	c.563G>T	c.(562-564)cGt>cTt	p.R188L	BCL2L11_ENST00000308659.8_Missense_Mutation_p.R128L	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	188					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						CGACTGTTACGTTACATTGTC	0.443000													14	61					5.03518e-11	8.91503e-11	0.007413	1	0
LMNB1	4001	broad.mit.edu	37	5	126168413	126168413	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:126168413A>T	ENST00000261366.5	+	10	2000	c.1639A>T	c.(1639-1641)Aaa>Taa	p.K547*	LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	547	Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		TACAGTCTTTAAAACAACCAT	0.383000													9	68					0	0	0.006214	0	0
CD163	9332	broad.mit.edu	37	12	7637980	7637980	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:7637980T>G	ENST00000359156.4	-	11	2693	c.2491A>C	c.(2491-2493)Agc>Cgc	p.S831R	CD163_ENST00000396620.3_Missense_Mutation_p.S864R|CD163_ENST00000541972.1_Missense_Mutation_p.S819R|CD163_ENST00000432237.2_Missense_Mutation_p.S831R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	831	SRCR 8.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCCTCTCTGCTGGCTTCACTG	0.478000													14	47					0	0	0.004007	0	0
ZNF423	23090	broad.mit.edu	37	16	49672204	49672204	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:49672204G>T	ENST00000561648.1	-	4	912	c.859C>A	c.(859-861)Ccg>Acg	p.P287T	ZNF423_ENST00000567169.1_Missense_Mutation_p.P170T|ZNF423_ENST00000535559.1_Missense_Mutation_p.P170T|ZNF423_ENST00000563137.2_Missense_Mutation_p.P227T|ZNF423_ENST00000562871.1_Missense_Mutation_p.P227T|ZNF423_ENST00000562520.1_Missense_Mutation_p.P227T|ZNF423_ENST00000262383.2_Missense_Mutation_p.P287T	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	287					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GACAGCTGCGGGTGGCGGGTG	0.607000													3	27					2.56e-06	3.52939e-06	0.009096	1	0
SLC14A2	8170	broad.mit.edu	37	18	43262322	43262322	+	Silent	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:43262322A>T	ENST00000255226.6	+	20	3417	c.2601A>T	c.(2599-2601)tcA>tcT	p.S867S	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Silent_p.S867S|SLC14A2_ENST00000589658.1_Silent_p.S344S	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	867						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTGTCTCTCAGCTCTCACCT	0.537000													55	206					0	0	0.003610	0	0
KDM3B	51780	broad.mit.edu	37	5	137754725	137754725	+	Silent	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:137754725A>G	ENST00000314358.5	+	14	3719	c.3519A>G	c.(3517-3519)ccA>ccG	p.P1173P	KDM3B_ENST00000394866.1_Silent_p.P829P|KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000542866.1_Silent_p.P205P	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1173					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TAACAACTCCAGAGCCGGACC	0.493000													20	55					0	0	0.007413	0	0
CDH11	1009	broad.mit.edu	37	16	65025722	65025722	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:65025722C>A	ENST00000394156.3	-	6	1213	c.760G>T	c.(760-762)Gtg>Ttg	p.V254L	CDH11_ENST00000566827.1_Missense_Mutation_p.V128L|CDH11_ENST00000268603.4_Missense_Mutation_p.V254L			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	254	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GTGATCGTCACTTTGGTTGTC	0.537000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			25	43					2.65835e-16	5.48284e-16	0.007291	1	0
ZMYM6	9204	broad.mit.edu	37	1	35485054	35485054	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:35485054C>A	ENST00000357182.4	-	4	555	c.328G>T	c.(328-330)Gga>Tga	p.G110*	ZMYM6_ENST00000373333.1_Nonsense_Mutation_p.G110*|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000317538.5_Nonsense_Mutation_p.G110*|ZMYM6_ENST00000487874.1_Nonsense_Mutation_p.G110*|ZMYM6_ENST00000373340.2_Nonsense_Mutation_p.G110*	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	110					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TGAGTAGATCCTGTCTTATGA	0.448000													13	110					1.5842e-08	2.48946e-08	0.001855	1	0
LGALS13	29124	broad.mit.edu	37	19	40095951	40095951	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:40095951G>T	ENST00000221797.4	+	3	271	c.226G>T	c.(226-228)Gag>Tag	p.E76*		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	76	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			GATGTTGGAGGAGACAACAGA	0.478000													15	51					3.35478e-16	6.91004e-16	0.003163	1	0
COG3	83548	broad.mit.edu	37	13	46103925	46103925	+	Splice_Site	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:46103925G>T	ENST00000349995.5	+	21	2342		c.e21-1			NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3						ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TTTATTTCCAGCAAAGGTCAA	0.333000													12	54					5.16669e-11	9.09595e-11	0.000978	1	0
FSTL5	56884	broad.mit.edu	37	4	162508727	162508727	+	Splice_Site	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:162508727C>A	ENST00000306100.5	-	8	1331	c.894_splice	c.e8-1	p.D299_splice	FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Splice_Site_p.D298_splice|FSTL5_ENST00000427802.2_Splice_Site_p.D298_splice|FSTL5_ENST00000536695.1_Splice_Site_p.D298_splice	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	299	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCTCCAAAGTCCTATTAAAAA	0.323000													11	48					7.03913e-09	1.11633e-08	0.001368	1	0
FLG	2312	broad.mit.edu	37	1	152284042	152284042	+	Nonsense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:152284042G>C	ENST00000368799.1	-	3	3355	c.3320C>G	c.(3319-3321)tCa>tGa	p.S1107*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1107	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTCCCCCTGACCAGTCACG	0.582000									Ichthyosis				134	260					0	0	0.003610	0	0
CCBE1	147372	broad.mit.edu	37	18	57136785	57136785	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:57136785C>A	ENST00000439986.4	-	4	357	c.320G>T	c.(319-321)gGc>gTc	p.G107V	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	107					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CAGCACTCGGCCAAAGTTGTC	0.537000													30	168					2.47511e-08	3.84273e-08	0.008361	1	0
PCNT	5116	broad.mit.edu	37	21	47855860	47855860	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr21:47855860A>T	ENST00000359568.5	+	39	8902	c.8795A>T	c.(8794-8796)aAg>aTg	p.K2932M	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2932					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CATAAGATCAAGCAGCTTCAG	0.537000													42	70					0	0	0.002852	0	0
GNA14	9630	broad.mit.edu	37	9	80046288	80046288	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:80046288G>T	ENST00000341700.6	-	4	1055	c.542C>A	c.(541-543)cCc>cAc	p.P181H	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	181					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						GCCGGTGGTGGGCACTCGGAC	0.488000													16	56					2.32078e-09	3.80903e-09	0.003163	1	0
PCDH20	64881	broad.mit.edu	37	13	61986977	61986977	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:61986977C>G	ENST00000409186.1	-	5	3360	c.1255G>C	c.(1255-1257)Gtt>Ctt	p.V419L	PCDH20_ENST00000409204.4_Missense_Mutation_p.V419L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	392	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CTGAAAATAACTTTAATAATG	0.458000													28	105					0	0	0.007291	0	0
ITIH2	3698	broad.mit.edu	37	10	7780631	7780631	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:7780631T>A	ENST00000358415.4	+	16	2171	c.2005T>A	c.(2005-2007)Tgg>Agg	p.W669R	ITIH2_ENST00000379587.4_Missense_Mutation_p.W658R	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	669					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CACCCCGTCTTGGGCCAATCC	0.532000													13	46					0	0	0.001855	0	0
SPOCK1	6695	broad.mit.edu	37	5	136315111	136315111	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:136315111G>T	ENST00000394945.1	-	10	1208	c.1039C>A	c.(1039-1041)Cag>Aag	p.Q347K	SPOCK1_ENST00000509978.1_5'UTR|SPOCK1_ENST00000282223.7_Missense_Mutation_p.Q347K	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	347	Thyroglobulin type-1.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCGTGGCACTGTGTGGCTTTG	0.537000													6	57					8.12818e-05	0.000100935	0.001984	1	0
ZNF578	147660	broad.mit.edu	37	19	53013967	53013967	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:53013967T>A	ENST00000421239.2	+	6	577	c.333T>A	c.(331-333)caT>caA	p.H111Q		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AAGATATTCATGACTTTGAGT	0.393000													59	105					0	0	0.003610	0	0
MBNL2	10150	broad.mit.edu	37	13	97995355	97995355	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:97995355G>T	ENST00000345429.6	+	4	1206	c.425G>T	c.(424-426)gGg>gTg	p.G142V	MBNL2_ENST00000445661.2_Intron|MBNL2_ENST00000376673.3_Missense_Mutation_p.G142V|MBNL2_ENST00000397601.1_Missense_Mutation_p.G142V|MBNL2_ENST00000343600.4_Missense_Mutation_p.G142V	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	142					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)			CCTGGAGTTGGGTTGGTCCCA	0.537000													28	44					3.73988e-18	7.89192e-18	0.006320	1	0
TPM2	7169	broad.mit.edu	37	9	35689751	35689751	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:35689751C>T	ENST00000378292.3	-	1	1266	c.64G>A	c.(64-66)Gcc>Acc	p.A22T	TPM2_ENST00000378300.5_Missense_Mutation_p.A22T|TPM2_ENST00000329305.2_Missense_Mutation_p.A22T|TPM2_ENST00000360958.2_Missense_Mutation_p.A22T	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	22					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCTGCTCGGCGCGGTCGATG	0.672000													35	90					0	0	0.005524	0	0
RNF20	56254	broad.mit.edu	37	9	104324547	104324547	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:104324547G>T	ENST00000389120.3	+	20	2861	c.2771G>T	c.(2770-2772)tGc>tTc	p.C924F		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	924					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ACCTGTCCGTGCTGTAACATG	0.418000													25	124					1.66031e-10	2.86444e-10	0.003954	1	0
OR5T2	219464	broad.mit.edu	37	11	55999927	55999927	+	Silent	SNP	G	G	T	rs138680983	byFrequency	TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:55999927G>T	ENST00000313264.4	-	1	810	c.735C>A	c.(733-735)atC>atA	p.I245I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGACCAGCTCGATAGAGCCCA	0.428000													21	146					1.96292e-10	3.38277e-10	0.010504	1	0
NOTCH1	4851	broad.mit.edu	37	9	139405257	139405257	+	Splice_Site	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:139405257C>A	ENST00000277541.6	-	17	2663	c.2587_splice	c.e17-1	p.G863_splice		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	863	EGF-like 22.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACAGGTCTGCCCTGCGGGGCA	0.706000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			6	25					1.06961e-07	1.59363e-07	0.003080	1	0
MMRN2	79812	broad.mit.edu	37	10	88703740	88703740	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:88703740C>A	ENST00000372027.4	-	6	874	c.801G>T	c.(799-801)gaG>gaT	p.E267D		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	267						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GGCGGTTGGCCTCCACGTCAA	0.562000													11	45					0.000673444	0.000787716	0.008291	1	0
CLCN7	1186	broad.mit.edu	37	16	1510920	1510920	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:1510920C>A	ENST00000382745.4	-	5	986	c.381G>T	c.(379-381)tgG>tgT	p.W127C	CLCN7_ENST00000262318.8_Missense_Mutation_p.W103C|CLCN7_ENST00000448525.1_Missense_Mutation_p.W103C	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	127						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CGCAGATGACCCAGCGCTTGA	0.652000													4	25					0.00024832	0.000300425	0.009096	1	0
ABCA10	10349	broad.mit.edu	37	17	67215832	67215832	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:67215832C>T	ENST00000269081.4	-	7	1293	c.384G>A	c.(382-384)aaG>aaA	p.K128K	ABCA10_ENST00000432313.2_Silent_p.K128K|ABCA10_ENST00000423818.2_Intron|ABCA10_ENST00000416101.2_Silent_p.K128K	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	128					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TAATTTCTCCCTTAGAAATGA	0.313000													49	68					0	0	0.003610	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103440446	103440446	+	Silent	SNP	C	C	G	rs144883325	byFrequency	TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:103440446C>G	ENST00000361246.2	-	12	1836	c.1548G>C	c.(1546-1548)gcG>gcC	p.A516A		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	516					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTTGGCGAAGCGCCACTGTGT	0.542000													10	27					0	0	0.008291	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492520	74492520	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:74492520C>A	ENST00000354431.4	-	8	2043	c.1852G>T	c.(1852-1854)Gtt>Ttt	p.V618F	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.V618F	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	618										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CCATTGGGAACTTTAAAGTCT	0.284000													9	42					0.00829132	0.00917249	0.008291	1	0
DHX34	9704	broad.mit.edu	37	19	47884581	47884581	+	Splice_Site	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:47884581G>T	ENST00000328771.4	+	16	3647	c.3298_splice	c.e16+1	p.G1100_splice		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1100						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		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;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TGGGCCCCCAGGTAAGCACAG	0.672000													14	19					3.41278e-10	5.83597e-10	0.004990	1	0
ITGA8	8516	broad.mit.edu	37	10	15634292	15634292	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:15634292G>T	ENST00000378076.3	-	22	2576	c.2223C>A	c.(2221-2223)ggC>ggA	p.G741G		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	741					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CAAATCGGAGGCCCAGGGAAT	0.378000													8	33					0.000157383	0.000191602	0.003080	1	0
TSSK1B	83942	broad.mit.edu	37	5	112769800	112769800	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:112769800T>A	ENST00000390666.3	-	1	928	c.737A>T	c.(736-738)aAg>aTg	p.K246M	MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	246	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GATGAGGTCCTTGCACTCGCC	0.597000													7	28					0	0	0.001984	0	0
AXIN1	8312	broad.mit.edu	37	16	339531	339531	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:339531C>A	ENST00000262320.3	-	10	2742	c.2371G>T	c.(2371-2373)Ggg>Tgg	p.G791W	AXIN1_ENST00000354866.3_Missense_Mutation_p.G755W	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	791	DIX.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				ATGGGTTCCCCGCAGAAGTAG	0.632000													14	34					2.61681e-11	4.68129e-11	0.002450	1	0
EFCC1	79825	broad.mit.edu	37	3	128758557	128758557	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:128758557G>T	ENST00000436022.2	+	8	1663	c.352G>T	c.(352-354)Gga>Tga	p.G118*	EFCC1_ENST00000480450.1_Nonsense_Mutation_p.G555*	NM_024768.2	NP_079044.2			EF-hand and coiled-coil domain containing 1																		CCCTCCAGAGGGAAGGCCCAG	0.647000													8	52					0.000673444	0.000787716	0.008291	1	0
ZNF678	339500	broad.mit.edu	37	1	227838768	227838768	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:227838768G>T	ENST00000343776.4	+	3	421	c.76G>T	c.(76-78)Gtt>Ttt	p.V26F	ZNF678_ENST00000397097.3_Intron|ZNF678_ENST00000498759.1_Intron			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	81					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ttataaactggtttatacagg	0.383000													88	159					2.09793e-52	4.90044e-52	0.003610	1	0
COL4A2	1284	broad.mit.edu	37	13	110960282	110960282	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:110960282C>A	ENST00000360467.5	+	2	338	c.32C>A	c.(31-33)cCt>cAt	p.P11H		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	11					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GTGGCCGGCCCTGCCCTACGG	0.672000													5	22					0.000602214	0.000709753	0.000602	1	0
PRICKLE2	166336	broad.mit.edu	37	3	64085118	64085118	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:64085118G>A	ENST00000295902.6	-	8	2729	c.2144C>T	c.(2143-2145)cCc>cTc	p.P715L	PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.P771L	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	715	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TCTCAGAGGGGGCCTATCTTT	0.637000													15	54					0	0	0.003163	0	0
PTPRT	11122	broad.mit.edu	37	20	40979284	40979284	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:40979284G>T	ENST00000373198.3	-	11	2084	c.1849C>A	c.(1849-1851)Cgg>Agg	p.R617R	PTPRT_ENST00000373190.1_Silent_p.R617R|PTPRT_ENST00000373184.1_Silent_p.R617R|PTPRT_ENST00000373201.1_Silent_p.R617R|PTPRT_ENST00000356100.2_Silent_p.R617R|PTPRT_ENST00000373187.1_Silent_p.R617R|PTPRT_ENST00000373193.3_Silent_p.R617R	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	617	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGAGCTCCCCGGGACTGAGCG	0.527000													12	63					7.93312e-07	1.13091e-06	0.002450	1	0
MYO10	4651	broad.mit.edu	37	5	16673924	16673924	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:16673924T>C	ENST00000513610.1	-	36	5493	c.5039A>G	c.(5038-5040)aAa>aGa	p.K1680R	MYO10_ENST00000274203.9_Missense_Mutation_p.K1037R|MYO10_ENST00000427430.2_Missense_Mutation_p.K1037R|MYO10_ENST00000505695.1_Missense_Mutation_p.K1019R|MYO10_ENST00000515803.1_Missense_Mutation_p.K1019R	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1680	MyTH4.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CTCTCGGCATTTGGTTTTCTT	0.473000													71	79					0	0	0.003610	0	0
CIT	11113	broad.mit.edu	37	12	120135607	120135607	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:120135607C>A	ENST00000392521.2	-	46	5794	c.5739G>T	c.(5737-5739)ccG>ccT	p.P1913P	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.P1871P	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1871					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.P1871P(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCAGGTAGCGCGGGTTCGGGA	0.552000													13	82					0.000219431	0.000266514	0.002450	1	0
SPTBN2	6712	broad.mit.edu	37	11	66472275	66472275	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:66472275C>A	ENST00000533211.1	-	15	2803	c.2472G>T	c.(2470-2472)caG>caT	p.Q824H	SPTBN2_ENST00000529997.1_Missense_Mutation_p.Q824H|SPTBN2_ENST00000309996.2_Missense_Mutation_p.Q824H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	824					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCACCCGGCTCTGCACCTCGG	0.716000													6	18					2.0095e-06	2.78777e-06	0.001984	1	0
SPOPL	339745	broad.mit.edu	37	2	139326574	139326574	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:139326574C>A	ENST00000280098.4	+	11	1482	c.1103C>A	c.(1102-1104)gCa>gAa	p.A368E		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	368						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		CATTTAGTAGCAGAAGCCTTT	0.408000													74	323					3.00167e-28	6.80642e-28	0.003610	1	0
SND1	27044	broad.mit.edu	37	7	127729676	127729676	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:127729676G>T	ENST00000354725.3	+	22	2748	c.2554G>T	c.(2554-2556)Ggg>Tgg	p.G852W		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	852					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GGGCGATGTGGGGCTGGGCTT	0.582000													12	47					1.08611e-07	1.60893e-07	0.000978	1	0
TIMELESS	8914	broad.mit.edu	37	12	56815200	56815200	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:56815200C>A	ENST00000229201.4	-	23	2954	c.2800G>T	c.(2800-2802)Ggg>Tgg	p.G934W	TIMELESS_ENST00000554616.1_Missense_Mutation_p.G432W|TIMELESS_ENST00000553532.1_Missense_Mutation_p.G935W	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	935					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCCACCAGCCCCAGAGCCAAG	0.502000													23	96					3.01185e-09	4.89149e-09	0.003954	1	0
SCN8A	6334	broad.mit.edu	37	12	52162774	52162774	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:52162774C>A	ENST00000354534.5	+	17	3205	c.3027C>A	c.(3025-3027)gcC>gcA	p.A1009A	SCN8A_ENST00000545061.1_Silent_p.A1009A	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1009					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGGGTGTGGCCTGGACCAAAC	0.522000													8	23					3.09899e-07	4.51317e-07	0.004482	1	0
TRIM42	287015	broad.mit.edu	37	3	140407339	140407339	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:140407339C>A	ENST00000286349.3	+	3	2006	c.1815C>A	c.(1813-1815)ggC>ggA	p.G605G		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	605	Fibronectin type-III.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGACCCCAGGCCCAATTGTTA	0.547000													10	83					0.000673444	0.000787716	0.008291	1	0
SDK1	221935	broad.mit.edu	37	7	4249748	4249748	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:4249748C>T	ENST00000404826.2	+	38	5632	c.5493C>T	c.(5491-5493)atC>atT	p.I1831I	SDK1_ENST00000389531.3_Silent_p.I1811I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1831	Fibronectin type-III 12.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCAACGGCATCCTGCAGGGCT	0.662000													16	24					0	0	0.004007	0	0
POTEA	340441	broad.mit.edu	37	8	43147699	43147699	+	RNA	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:43147699G>T	ENST00000522175.2	+	0	74							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGGGCAAGATGGGCAAGTGGT	0.587000													6	39					0.00116845	0.00134841	0.001168	1	0
PRX	57716	broad.mit.edu	37	19	40903049	40903049	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:40903049G>T	ENST00000324001.7	-	7	1480	c.1210C>A	c.(1210-1212)Cgg>Agg	p.R404R	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	404					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCAGCGGGCCGGGGCTCCAAG	0.612000													20	103					7.41877e-09	1.17424e-08	0.001882	1	0
MAP3K6	9064	broad.mit.edu	37	1	27684687	27684687	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:27684687C>T	ENST00000493901.1	-	22	3139	c.2900G>A	c.(2899-2901)gGc>gAc	p.G967D	MAP3K6_ENST00000357582.2_Missense_Mutation_p.G967D|MAP3K6_ENST00000374040.3_Missense_Mutation_p.G959D	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	967					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTGGCTGGTGCCCCCATAACT	0.612000											OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	38					0	0	0.000602	0	0
MFAP5	8076	broad.mit.edu	37	12	8813495	8813495	+	Splice_Site	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:8813495C>A	ENST00000359478.2	-	3	246		c.e3-1		MFAP5_ENST00000538107.1_Splice_Site|MFAP5_ENST00000535336.1_Splice_Site|MFAP5_ENST00000433590.2_Splice_Site|MFAP5_ENST00000540087.1_Splice_Site|MFAP5_ENST00000396549.2_Splice_Site|MFAP5_ENST00000543369.1_Intron	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5							microfibril	extracellular matrix structural constituent	p.?(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					GGTATCCAGTCTATAGCAAAG	0.433000													9	54					0.000978159	0.00113984	0.000978	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84488788	84488788	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:84488788G>A	ENST00000286744.5	+	6	813	c.589G>A	c.(589-591)Ggc>Agc	p.G197S	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G197S	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	197						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTGTATCAGTGGCATCTGTCA	0.483000													8	35					0	0	0.003080	0	0
NAA16	79612	broad.mit.edu	37	13	41941596	41941596	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:41941596G>T	ENST00000379406.3	+	14	1885	c.1561G>T	c.(1561-1563)Gac>Tac	p.D521Y	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	521					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						GATAACTGATGACCAATTCGA	0.299000													11	75					3.07112e-06	4.20786e-06	0.000978	1	0
EMC6	83460	broad.mit.edu	37	17	3572681	3572681	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:3572681C>T	ENST00000397133.2	+	2	481	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	EMC6_ENST00000248378.5_Missense_Mutation_p.R81W|RP11-48B14.2_ENST00000550383.1_3'UTR	NM_001014764.1	NP_001014764.1			ER membrane protein complex subunit 6																		TTTCAAATCACGGAGACCTCT	0.562000													18	29					0	0	0.006122	0	0
DPP9	91039	broad.mit.edu	37	19	4702064	4702064	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:4702064C>A	ENST00000262960.9	-	9	1264	c.987G>T	c.(985-987)acG>acT	p.T329T	DPP9_ENST00000597849.1_Silent_p.T329T|DPP9_ENST00000598800.1_Silent_p.T300T|DPP9_ENST00000594671.1_Silent_p.T300T	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	300					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GATACGAGTCCGTCTTCCTTT	0.612000													12	35					1.5842e-08	2.48946e-08	0.001855	1	0
ENO3	2027	broad.mit.edu	37	17	4857014	4857014	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:4857014T>A	ENST00000323997.6	+	6	450	c.318T>A	c.(316-318)ttT>ttA	p.F106L	ENO3_ENST00000518175.1_Missense_Mutation_p.F106L|ENO3_ENST00000519584.1_Missense_Mutation_p.F63L	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	106					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						CAGCCAAGTTTGGGGCCAATG	0.612000													71	69					0	0	0.003610	0	0
LARS	51520	broad.mit.edu	37	5	145557110	145557110	+	Splice_Site	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:145557110C>T	ENST00000394434.2	-	2	291	c.125_splice	c.e2+1	p.S42_splice	LARS_ENST00000545646.1_Splice_Site_p.S42_splice|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000274562.9_Splice_Site_p.S42_splice|LARS_ENST00000510191.1_Intron	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	42					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TATTACTCACCTGGTCTGTTT	0.303000													22	79					0	0	0.001882	0	0
LOC645752	645752	broad.mit.edu	37	15	78217277	78217277	+	RNA	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:78217277C>T	ENST00000567226.1	-	0	225																											CCAAGACTCACATCCCCAGGT	0.532000													9	42					0	0	0.000978	0	0
SLC2A14	144195	broad.mit.edu	37	12	7982364	7982364	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:7982364G>T	ENST00000543909.1	-	10	1339	c.580C>A	c.(580-582)Cag>Aag	p.Q194K	SLC2A14_ENST00000431042.2_Missense_Mutation_p.Q171K|SLC2A14_ENST00000340749.5_Missense_Mutation_p.Q171K|SLC2A14_ENST00000535295.1_Missense_Mutation_p.Q85K|SLC2A14_ENST00000539924.1_Missense_Mutation_p.Q209K|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Missense_Mutation_p.Q194K|SLC2A14_ENST00000542546.1_Missense_Mutation_p.Q85K			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	194					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TAGAGTACCTGGGCCACCAGA	0.438000													8	44					1.12685e-05	1.49636e-05	0.004482	1	0
PEX11A	8800	broad.mit.edu	37	15	90226650	90226650	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:90226650C>A	ENST00000300056.3	-	3	851	c.702G>T	c.(700-702)atG>atT	p.M234I	PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.M203I	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	234					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CCACAGTGATCATGCCTGCTA	0.468000													84	322					4.59617e-45	1.06557e-44	0.003610	1	0
VNN2	8875	broad.mit.edu	37	6	133078563	133078563	+	Missense_Mutation	SNP	G	G	T	rs35993077	byFrequency	TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:133078563G>T	ENST00000326499.6	-	2	460	c.336C>A	c.(334-336)gaC>gaA	p.D112E	VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525270.1_Missense_Mutation_p.D59E|VNN2_ENST00000525289.1_Missense_Mutation_p.D112E	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	112	CN hydrolase.		D -> E.		cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		ACCTGTGGGGGTCTTGACACG	0.408000													9	52					5.4927e-09	8.77362e-09	0.004482	1	0
EDNRB	1910	broad.mit.edu	37	13	78477380	78477380	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:78477380T>C	ENST00000377211.4	-	4	1134	c.982A>G	c.(982-984)Ata>Gta	p.I328V	EDNRB_ENST00000334286.5_Missense_Mutation_p.I238V|EDNRB_ENST00000446573.1_Missense_Mutation_p.I238V	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	238					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	TCAAAACCTATGGCTTCAGGG	0.413000													57	131					0	0	0.003610	0	0
C2orf71	388939	broad.mit.edu	37	2	29293999	29293999	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:29293999G>T	ENST00000331664.5	-	1	3128	c.3129C>A	c.(3127-3129)acC>acA	p.T1043T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1043	Pro-rich.				response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GCCGCTTTGTGGTGGGTGGGC	0.677000													13	67					4.93089e-13	9.3266e-13	0.002450	1	0
USP9X	8239	broad.mit.edu	37	X	41082625	41082625	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:41082625G>T	ENST00000324545.7	+	39	7354	c.6721G>T	c.(6721-6723)Gtc>Ttc	p.V2241F	USP9X_ENST00000378308.2_Missense_Mutation_p.V2241F	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2241					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTGTTGCAATGTCTCTTCAAG	0.378000													23	33					5.35356e-11	9.41425e-11	0.002780	1	0
SERPINA9	327657	broad.mit.edu	37	14	94933717	94933717	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:94933717T>C	ENST00000337425.5	-	3	759	c.685A>G	c.(685-687)Aag>Gag	p.K229E	SERPINA9_ENST00000546329.1_Missense_Mutation_p.K193E|SERPINA9_ENST00000380365.3_Missense_Mutation_p.K211E|SERPINA9_ENST00000448305.2_Missense_Mutation_p.K131E|SERPINA9_ENST00000424550.2_Missense_Mutation_p.K80E|SERPINA9_ENST00000298845.7_Missense_Mutation_p.K129E	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	211					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TTCTCCCACTTGGCTAGCACA	0.453000													5	25					0	0	0.006214	0	0
CLEC16A	23274	broad.mit.edu	37	16	11065086	11065086	+	Splice_Site	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:11065086A>T	ENST00000409790.1	+	5	827	c.598_splice	c.e5+1	p.K199_splice	CLEC16A_ENST00000409552.3_Splice_Site_p.K199_splice	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	199										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ATGTCTATAAAGGTAAGTGTC	0.468000											OREG0023609	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	18					0	0	0.000602	0	0
RYR1	6261	broad.mit.edu	37	19	38958451	38958451	+	Splice_Site	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:38958451G>T	ENST00000355481.4	+	25	3511	c.3381_splice	c.e25+1	p.R1127_splice	RYR1_ENST00000359596.3_Splice_Site_p.R1127_splice|RYR1_ENST00000360985.3_Splice_Site_p.R1127_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1127	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AATGGGCACCGCGTGGGTACC	0.637000													7	31					1.26484e-09	2.10491e-09	0.003080	1	0
PTPN14	5784	broad.mit.edu	37	1	214557937	214557937	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:214557937T>A	ENST00000366956.5	-	13	1455	c.1261A>T	c.(1261-1263)Atg>Ttg	p.M421L	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	421					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TCGGCCCGCATGATGTCACTC	0.582000													7	99					0	0	0.003080	0	0
HFE2	148738	broad.mit.edu	37	1	145415523	145415523	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:145415523G>T	ENST00000336751.5	+	3	580	c.342G>T	c.(340-342)atG>atT	p.M114I	HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_Start_Codon_SNP_p.M1I	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	114					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGACCTGATGATCCAGCACA	0.731000													9	44					4.68919e-08	7.14433e-08	0.008291	1	0
KIAA2022	340533	broad.mit.edu	37	X	73963750	73963750	+	Silent	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:73963750T>A	ENST00000373468.1	-	3	1293	c.642A>T	c.(640-642)gcA>gcT	p.A214A	KIAA2022_ENST00000055682.5_Silent_p.A214A			Q5QGS0	K2022_HUMAN	KIAA2022	214					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTCTGTCTCCTGCCCTTGACT	0.448000													33	41					0	0	0.002445	0	0
MIR520C	574476	broad.mit.edu	37	19	54210730	54210730	+	RNA	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:54210730G>A	ENST00000385005.1	+	0	24					NR_030198.1																						TCCTCTAGAGGGAAGCACTTT	0.413000													25	49					0	0	0.003954	0	0
AARS2	57505	broad.mit.edu	37	6	44270227	44270227	+	Silent	SNP	C	C	A	rs150668957		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:44270227C>A	ENST00000244571.4	-	18	2390	c.2388G>T	c.(2386-2388)ctG>ctT	p.L796L	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	796					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CTTCCTGGGCCAGGCTCTGGC	0.607000													7	48					5.18039e-06	7.04806e-06	0.003080	1	0
EPHX3	79852	broad.mit.edu	37	19	15342626	15342626	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:15342626C>A	ENST00000221730.3	-	2	510	c.290G>T	c.(289-291)gGa>gTa	p.G97V	EPHX3_ENST00000435261.1_Missense_Mutation_p.G97V|EPHX3_ENST00000602233.1_Missense_Mutation_p.G97V	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	97						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CATGAGGGGTCCGTTACCTCG	0.657000													9	32					0.000274275	0.000328495	0.004482	1	0
ROBO3	64221	broad.mit.edu	37	11	124745223	124745223	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:124745223C>A	ENST00000397801.1	+	14	2482	c.2290C>A	c.(2290-2292)Cct>Act	p.P764T	ROBO3_ENST00000538940.1_Missense_Mutation_p.P742T	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	764					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CAGGAGCATTCCTGAGGAGGG	0.597000													15	108					6.72482e-11	1.17855e-10	0.003163	1	0
CYP11B1	1584	broad.mit.edu	37	8	143958291	143958291	+	Silent	SNP	C	C	T	rs61751154		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:143958291C>T	ENST00000292427.4	-	4	638	c.606G>A	c.(604-606)ttG>ttA	p.L202L	CYP11B1_ENST00000377675.3_Silent_p.L273L|CYP11B1_ENST00000517471.1_Silent_p.L202L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	202					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CAAAAAGAGCCAAGTTGCTGG	0.642000									Familial Hyperaldosteronism type I				4	32					0	0	0.000602	0	0
SAAL1	113174	broad.mit.edu	37	11	18111042	18111042	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:18111042T>A	ENST00000524803.1	-	7	654	c.605A>T	c.(604-606)aAg>aTg	p.K202M	SAAL1_ENST00000300013.4_Missense_Mutation_p.K202M|SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000529318.1_Missense_Mutation_p.K202M			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	202					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						CTCCCCCACCTTCACCAGCAA	0.418000													15	29					0	0	0.007413	0	0
MLH3	27030	broad.mit.edu	37	14	75515832	75515832	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:75515832T>A	ENST00000355774.2	-	2	742	c.527A>T	c.(526-528)gAa>gTa	p.E176V	MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.E176V|MLH3_ENST00000556740.1_Missense_Mutation_p.E176V|MLH3_ENST00000556257.1_Missense_Mutation_p.E176V	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	176					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGAGAGAGCTTCTATTCTCTG	0.433000								Mismatch excision repair (MMR)					13	54					0	0	0.001368	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162359	33162359	+	RNA	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:33162359G>T	ENST00000510327.1	-	0	346																											ACAAGAAGCGGAAGTATGAGT	0.592000													11	15					5.16669e-11	9.09595e-11	0.000978	1	0
GLI2	2736	broad.mit.edu	37	2	121747040	121747040	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:121747040C>A	ENST00000452319.1	+	14	3610	c.3550C>A	c.(3550-3552)Ccg>Acg	p.P1184T	GLI2_ENST00000361492.4_Missense_Mutation_p.P1184T|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1184					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGGCCAGTACCCGGGCTACAG	0.697000													6	25					0.00116845	0.00134841	0.001168	1	0
GRIP1	23426	broad.mit.edu	37	12	66838452	66838452	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:66838452T>A	ENST00000359742.4	-	13	1839	c.1599A>T	c.(1597-1599)gaA>gaT	p.E533D	GRIP1_ENST00000398016.3_Missense_Mutation_p.E481D|GRIP1_ENST00000286445.7_Missense_Mutation_p.E533D			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	533	PDZ 4.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AGGTGCTGTCTTCTGTTGGAA	0.443000													12	78					0	0	0.001855	0	0
SPATS1	221409	broad.mit.edu	37	6	44336233	44336233	+	Nonsense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:44336233C>G	ENST00000288390.2	+	5	1039	c.692C>G	c.(691-693)tCa>tGa	p.S231*	SPATS1_ENST00000323108.8_Nonsense_Mutation_p.S231*			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	231										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTGAATTTTTCAATGTAAGTG	0.353000													15	62					0	0	0.003163	0	0
RIMS2	9699	broad.mit.edu	37	8	105010429	105010429	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:105010429C>A	ENST00000507740.1	+	15	2673	c.2437C>A	c.(2437-2439)Cct>Act	p.P813T	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000436393.2_Missense_Mutation_p.P799T|RIMS2_ENST00000406091.3_Intron	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1076	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.P799S(2)|p.P813S(2)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCTTACTCTACCTCGCTCCAG	0.358000										HNSCC(12;0.0054)			24	108					7.26314e-15	1.43505e-14	0.007291	1	0
ANKS1B	56899	broad.mit.edu	37	12	99192734	99192734	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:99192734T>A	ENST00000547776.2	-	21	3244	c.3245A>T	c.(3244-3246)cAa>cTa	p.Q1082L	ANKS1B_ENST00000547446.1_Missense_Mutation_p.Q217L|ANKS1B_ENST00000549493.2_Missense_Mutation_p.Q332L|ANKS1B_ENST00000549558.2_Missense_Mutation_p.Q248L|ANKS1B_ENST00000333732.7_Missense_Mutation_p.Q112L|ANKS1B_ENST00000547010.1_Missense_Mutation_p.Q598L|ANKS1B_ENST00000341752.7_Missense_Mutation_p.Q88L|ANKS1B_ENST00000549025.2_Missense_Mutation_p.Q180L|ANKS1B_ENST00000546568.1_Missense_Mutation_p.Q248L|ANKS1B_ENST00000546960.1_Missense_Mutation_p.Q308L|ANKS1B_ENST00000550693.2_Missense_Mutation_p.Q272L|ANKS1B_ENST00000332712.7_Missense_Mutation_p.Q272L|ANKS1B_ENST00000329257.7_Missense_Mutation_p.Q1082L	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1082	PID.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ACAAGCATCTTGGGTTGATTC	0.333000													8	38					0	0	0.003080	0	0
OR5D13	390142	broad.mit.edu	37	11	55541464	55541464	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:55541464C>T	ENST00000361760.1	+	1	551	c.551C>T	c.(550-552)tCt>tTt	p.S184F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGTGACCACTCTGTAATTGTT	0.383000													16	124					0	0	0.004007	0	0
AGTR2	186	broad.mit.edu	37	X	115303948	115303948	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:115303948A>G	ENST00000371906.4	+	3	605	c.415A>G	c.(415-417)Agt>Ggt	p.S139G		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	139					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						CACCTGCATGAGTGTTGATAG	0.403000													74	118					0	0	0.003610	0	0
MYT1L	23040	broad.mit.edu	37	2	1983515	1983515	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:1983515G>T	ENST00000399161.2	-	6	782	c.35C>A	c.(34-36)aCg>aAg	p.T12K	MYT1L_ENST00000428368.2_Missense_Mutation_p.T12K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	12					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTTGGACCGCGTGCGATGCCG	0.617000													3	18					0.004672	0.00520192	0.004672	1	0
NPAT	4863	broad.mit.edu	37	11	108059885	108059885	+	Silent	SNP	C	C	A	rs138978380	by1000genomes	TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:108059885C>A	ENST00000278612.8	-	6	609	c.504G>T	c.(502-504)tcG>tcT	p.S168S		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	168	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.S168S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AATATGACCTCGATGGATCTG	0.393000													9	71					0.000274275	0.000328495	0.004482	1	0
CMTR2	55783	broad.mit.edu	37	16	71318845	71318845	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:71318845G>A	ENST00000338099.5	-	3	1315	c.979C>T	c.(979-981)Cat>Tat	p.H327Y	FTSJD1_ENST00000434935.2_Missense_Mutation_p.H327Y			Q8IYT2	FTSJ1_HUMAN		327						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AACAGAGGATGGATGGCCTCT	0.423000													21	83					0	0	0.010504	0	0
TRPS1	7227	broad.mit.edu	37	8	116616622	116616622	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:116616622C>A	ENST00000395715.3	-	4	2151	c.1574G>T	c.(1573-1575)aGc>aTc	p.S525I	TRPS1_ENST00000520276.1_Missense_Mutation_p.S516I|TRPS1_ENST00000220888.5_Missense_Mutation_p.S512I|TRPS1_ENST00000519674.1_Missense_Mutation_p.S512I|TRPS1_ENST00000519076.1_Intron	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	512					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGCTCCCTTGCTGGAGAAGTC	0.448000									Langer-Giedion syndrome				28	142					8.16721e-17	1.69803e-16	0.002096	1	0
NEDD4	4734	broad.mit.edu	37	15	56140605	56140605	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:56140605C>A	ENST00000508342.1	-	13	3063	c.2764G>T	c.(2764-2766)Gat>Tat	p.D922Y	NEDD4_ENST00000338963.2_Missense_Mutation_p.D850Y|NEDD4_ENST00000435532.3_Missense_Mutation_p.D503Y|NEDD4_ENST00000506154.1_Missense_Mutation_p.D906Y			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	922	Mediates interaction with TNIK (By similarity).|WW 4.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AACCGAGGATCTTCCCATTGT	0.373000													30	158					3.1745e-13	6.02649e-13	0.008361	1	0
ACOXL	55289	broad.mit.edu	37	2	111691148	111691148	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:111691148G>T	ENST00000389811.4	+	12	1212	c.988G>T	c.(988-990)Ggg>Tgg	p.G330W	ACOXL_ENST00000439055.1_Missense_Mutation_p.G330W			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	330					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TCTGGTGGCGGGGCTGAAGGC	0.647000													6	25					3.59834e-05	4.61623e-05	0.001168	1	0
NLRP13	126204	broad.mit.edu	37	19	56413543	56413543	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:56413543C>G	ENST00000588751.1	-	9	2671	c.2647G>C	c.(2647-2649)Gct>Cct	p.A883P	NLRP13_ENST00000342929.3_Missense_Mutation_p.A883P			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	883							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGCTTGCAAGCGGGTGCTGCC	0.577000													6	20					0	0	0.006214	0	0
SHANK1	50944	broad.mit.edu	37	19	51217136	51217136	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:51217136C>A	ENST00000293441.1	-	5	729	c.711G>T	c.(709-711)ggG>ggT	p.G237G	SHANK1_ENST00000391814.1_Silent_p.G237G|SHANK1_ENST00000359082.3_Silent_p.G237G	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	237					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAATGTGGGCCCCGCCCAGGC	0.647000													19	21					5.26018e-13	9.91317e-13	0.001882	1	0
ZAN	7455	broad.mit.edu	37	7	100361665	100361665	+	RNA	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:100361665C>A	ENST00000542585.1	+	0	4261				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCCTGCTGCACGTGAAGGCCG	0.602000													14	57					6.31663e-08	9.56747e-08	0.003163	1	0
EPHA7	2045	broad.mit.edu	37	6	94068121	94068121	+	Missense_Mutation	SNP	G	G	T	rs149408123		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:94068121G>T	ENST00000369303.4	-	4	1025	c.841C>A	c.(841-843)Cgt>Agt	p.R281S		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	281	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R281S(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TAGAACCCACGGCCACAGGCT	0.378000													3	28					6.4e-05	8.07202e-05	0.004672	1	0
DGKH	160851	broad.mit.edu	37	13	42793838	42793838	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:42793838G>C	ENST00000379274.2	+	28	3371	c.2942G>C	c.(2941-2943)tGc>tCc	p.C981S	DGKH_ENST00000536612.1_Missense_Mutation_p.C981S|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Missense_Mutation_p.C872S|DGKH_ENST00000261491.4_Missense_Mutation_p.C1117S|DGKH_ENST00000540693.1_Missense_Mutation_p.C1117S|DGKH_ENST00000337343.4_Missense_Mutation_p.C1117S			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	1117					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CCTATGGATTGCACCAAAAGG	0.388000													8	45					0	0	0.006214	0	0
PEX5L	51555	broad.mit.edu	37	3	179605471	179605471	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:179605471G>T	ENST00000467460.1	-	4	630	c.300C>A	c.(298-300)tcC>tcA	p.S100S	PEX5L_ENST00000472994.1_Silent_p.S41S|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Silent_p.S76S|PEX5L_ENST00000464614.1_Silent_p.S57S|PEX5L_ENST00000263962.8_Silent_p.S98S|PEX5L_ENST00000392649.3_Silent_p.S57S|PEX5L_ENST00000485199.1_Silent_p.S65S|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000476138.1_Silent_p.S57S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	100					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CAGCTGTATTGGATGTTACTG	0.383000													26	142					1.17739e-12	2.20017e-12	0.005443	1	0
PLA2G4F	255189	broad.mit.edu	37	15	42445819	42445819	+	Splice_Site	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:42445819T>A	ENST00000397272.3	-	5	581	c.491_splice	c.e5+1	p.S164_splice	PLA2G4F_ENST00000382396.4_Splice_Site_p.S164_splice	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	164					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGAACTCACCTCTTCTCCAGA	0.542000													6	45					0	0	0.001168	0	0
SP140	11262	broad.mit.edu	37	2	231135314	231135314	+	Silent	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:231135314T>C	ENST00000392045.3	+	15	1572	c.1458T>C	c.(1456-1458)atT>atC	p.I486I	SP140_ENST00000486687.2_Silent_p.I410I|SP140_ENST00000343805.6_Silent_p.I426I|SP140_ENST00000417495.3_Silent_p.I372I|SP140_ENST00000350136.5_Silent_p.I355I|SP140_ENST00000420434.3_Silent_p.I459I	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	486					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)		CTGTGGATATTGCAAACAACT	0.313000													15	91					0	0	0.004007	0	0
TIAM2	26230	broad.mit.edu	37	6	155450812	155450812	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:155450812C>A	ENST00000461783.3	+	6	1728	c.455C>A	c.(454-456)cCg>cAg	p.P152Q	TIAM2_ENST00000456144.1_Missense_Mutation_p.P152Q|TIAM2_ENST00000318981.5_Missense_Mutation_p.P152Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.P152Q|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.P152Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	152					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCCACCCCACCGGGCGAAGAC	0.577000													4	27					0.00909568	0.00995582	0.009096	1	0
ELP6	54859	broad.mit.edu	37	3	47537584	47537584	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:47537584T>A	ENST00000296149.4	-	7	946	c.776A>T	c.(775-777)aAa>aTa	p.K259I	ELP6_ENST00000439305.1_Missense_Mutation_p.K186I|ELP6_ENST00000446787.1_Missense_Mutation_p.K186I	NM_001031703.2	NP_001026873.2			elongator acetyltransferase complex subunit 6																		AGACATTCCTTTGGCAAAAAA	0.493000													11	44					0	0	0.002450	0	0
AVPR1B	553	broad.mit.edu	37	1	206225371	206225371	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:206225371C>A	ENST00000367126.4	+	1	1396	c.931C>A	c.(931-933)Cct>Act	p.P311T		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	311					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CAAGAATGCCCCTGATGAAGG	0.562000													6	64					0.000157383	0.000191602	0.003080	1	0
DLGAP1	9229	broad.mit.edu	37	18	3502611	3502611	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:3502611C>A	ENST00000315677.3	-	12	3199	c.2604G>T	c.(2602-2604)caG>caT	p.Q868H	DLGAP1_ENST00000515196.2_Missense_Mutation_p.Q868H|DLGAP1_ENST00000534970.1_Missense_Mutation_p.Q552H|DLGAP1_ENST00000584874.1_Missense_Mutation_p.Q868H|DLGAP1_ENST00000400150.3_Missense_Mutation_p.Q584H|DLGAP1_ENST00000400155.1_Missense_Mutation_p.Q574H|DLGAP1_ENST00000539435.1_Missense_Mutation_p.Q576H|DLGAP1_ENST00000400147.2_Missense_Mutation_p.Q566H|DLGAP1_ENST00000581699.1_Missense_Mutation_p.Q574H|DLGAP1_ENST00000400149.3_Missense_Mutation_p.Q558H|DLGAP1_ENST00000581527.1_Missense_Mutation_p.Q868H|DLGAP1_ENST00000400145.2_Missense_Mutation_p.Q566H	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	868					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCGCCAAATCCTGGGAGGTGG	0.408000													18	63					0.000132079	0.000163361	0.008871	1	0
GABRA5	2558	broad.mit.edu	37	15	27114398	27114398	+	Translation_Start_Site	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:27114398G>T	ENST00000335625.5	+	3	891	c.3G>T	c.(1-3)atG>atT	p.M1I	GABRA5_ENST00000400081.3_Start_Codon_SNP_p.M1I|GABRA5_ENST00000355395.5_Start_Codon_SNP_p.M1I|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_3'UTR	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	1					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TATTGGGAATGGACAATGGAA	0.398000													22	87					1.50039e-11	2.70909e-11	0.001882	1	0
CD70	970	broad.mit.edu	37	19	6586184	6586184	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:6586184C>A	ENST00000245903.3	-	3	578	c.429G>T	c.(427-429)ctG>ctT	p.L143L	CD70_ENST00000423145.3_Silent_p.L143L	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	143					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						AGCTGAGACGCAGCAGGCTGA	0.652000													9	28					2.17888e-05	2.83272e-05	0.006214	1	0
RTP3	83597	broad.mit.edu	37	3	46542095	46542095	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:46542095G>A	ENST00000296142.3	+	2	977	c.405G>A	c.(403-405)gaG>gaA	p.E135E		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	135					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		AGTTGATAGAGGAGGTTCCTA	0.463000													25	69					0	0	0.004656	0	0
TRIM29	23650	broad.mit.edu	37	11	120008435	120008435	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:120008435T>A	ENST00000341846.5	-	1	726	c.305A>T	c.(304-306)aAg>aTg	p.K102M		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	102					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CGGCGACCTCTTGCCTTCCAT	0.592000													50	237					0	0	0.003610	0	0
LNPEP	4012	broad.mit.edu	37	5	96350769	96350769	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:96350769G>T	ENST00000231368.5	+	13	3038	c.2346G>T	c.(2344-2346)ctG>ctT	p.L782L	LNPEP_ENST00000395770.3_Silent_p.L768L	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	782					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTGAAAAACTGGGATACATGG	0.408000													18	73					5.03518e-11	8.91503e-11	0.007413	1	0
SELP	6403	broad.mit.edu	37	1	169581569	169581569	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:169581569G>A	ENST00000263686.6	-	6	884	c.847C>T	c.(847-849)Cag>Tag	p.Q283*	SELP_ENST00000458599.2_Nonsense_Mutation_p.Q283*|SELP_ENST00000367791.2_Nonsense_Mutation_p.Q283*|SELP_ENST00000367788.2_Intron|SELP_ENST00000367793.2_Intron|SELP_ENST00000367786.2_Nonsense_Mutation_p.Q283*|SELP_ENST00000367794.2_Nonsense_Mutation_p.Q283*|SELP_ENST00000367792.2_Nonsense_Mutation_p.Q283*	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	283	Sushi 2.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GACTGATGCTGGAATGCTTTT	0.512000													7	81					0	0	0.003080	0	0
NECAB2	54550	broad.mit.edu	37	16	84012093	84012093	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:84012093G>A	ENST00000305202.4	+	3	288	c.271G>A	c.(271-273)Gat>Aat	p.D91N	NECAB2_ENST00000565691.1_Silent_p.Q16Q	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	91	EF-hand 1.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						CTTCTTTGCAGATGGCGTCCT	0.517000													16	103					0	0	0.008871	0	0
OR2T2	401992	broad.mit.edu	37	1	248616248	248616248	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:248616248C>A	ENST00000342927.3	+	1	172	c.150C>A	c.(148-150)atC>atA	p.I50I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCTGCTCATCCACATGGACT	0.517000													6	105					5.16669e-11	9.09595e-11	0.000978	1	0
GRIK2	2898	broad.mit.edu	37	6	102372501	102372501	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:102372501C>A	ENST00000369138.1	+	12	2264	c.1774C>A	c.(1774-1776)Cca>Aca	p.P592T	GRIK2_ENST00000413795.1_Missense_Mutation_p.P592T|GRIK2_ENST00000318991.6_Missense_Mutation_p.P592T|GRIK2_ENST00000421544.1_Missense_Mutation_p.P592T|GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000369134.4_Missense_Mutation_p.P543T	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	592					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)	GTGGTATAATCCACACCCTTG	0.398000													15	72					2.31682e-05	2.99949e-05	0.003163	1	0
PRUNE2	158471	broad.mit.edu	37	9	79320697	79320697	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:79320697C>T	ENST00000428286.1	-	8	6616	c.5416G>A	c.(5416-5418)Gca>Aca	p.A1806T	PRUNE2_ENST00000376718.3_Missense_Mutation_p.A2165T			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2165					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGCACAGTTGCGTTTTCAGAA	0.483000													14	86					0	0	0.002450	0	0
EPHB3	2049	broad.mit.edu	37	3	184298349	184298349	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:184298349G>T	ENST00000330394.2	+	12	2784	c.2332G>T	c.(2332-2334)Ggc>Tgc	p.G778C	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	778	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CTCAGACTTTGGCCTCTCCCG	0.592000													8	69					0.000274275	0.000328495	0.004482	1	0
SLC35C2	51006	broad.mit.edu	37	20	44980704	44980704	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:44980704C>A	ENST00000372227.1	-	8	1363	c.823G>T	c.(823-825)Gcc>Tcc	p.A275S	SLC35C2_ENST00000543605.1_Missense_Mutation_p.A304S|SLC35C2_ENST00000372229.1_Missense_Mutation_p.A142S|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000317734.8_Missense_Mutation_p.A254S|SLC35C2_ENST00000372230.5_Missense_Mutation_p.A275S|SLC35C2_ENST00000243896.2_Missense_Mutation_p.A275S			Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	275					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				AAAATGCCGGCAATGGAGAGA	0.577000													12	23					1.61879e-10	2.8053e-10	0.001368	1	0
HOXD4	3233	broad.mit.edu	37	2	177016726	177016726	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:177016726C>A	ENST00000306324.3	+	1	777	c.365C>A	c.(364-366)cCc>cAc	p.P122H	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	122						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		AAGCAGCCGCCCTCCGGGACG	0.682000													3	19					6.4e-05	8.07202e-05	0.004672	1	0
UGT2B10	7365	broad.mit.edu	37	4	69693235	69693235	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:69693235A>T	ENST00000265403.7	+	5	1303	c.1276A>T	c.(1276-1278)Aat>Tat	p.N426Y	UGT2B10_ENST00000458688.2_Missense_Mutation_p.N342Y	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	426					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AGACCTGCTGAATGCACTGAA	0.388000													61	235					0	0	0.003610	0	0
BSN	8927	broad.mit.edu	37	3	49692724	49692724	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:49692724G>T	ENST00000296452.4	+	5	5849	c.5735G>T	c.(5734-5736)aGc>aTc	p.S1912I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1912					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TTTGGCAGCAGCTGCACTGGC	0.647000													21	40					6.21321e-17	1.29525e-16	0.002780	1	0
KIF27	55582	broad.mit.edu	37	9	86504076	86504076	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:86504076T>A	ENST00000297814.2	-	7	2045	c.1902A>T	c.(1900-1902)caA>caT	p.Q634H	KIF27_ENST00000413982.1_Missense_Mutation_p.Q634H|KIF27_ENST00000334204.2_Missense_Mutation_p.Q634H|KIF27_ENST00000376347.1_Missense_Mutation_p.Q25H	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	634					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GGACCTTATCTTGTTCTTCTA	0.413000													30	119					0	0	0.008361	0	0
NLRP3	114548	broad.mit.edu	37	1	247587189	247587189	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:247587189C>A	ENST00000366497.2	+	4	1224	c.444C>A	c.(442-444)ttC>ttA	p.F148L	NLRP3_ENST00000336119.3_Missense_Mutation_p.F148L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.F148L|NLRP3_ENST00000348069.2_Missense_Mutation_p.F148L|NLRP3_ENST00000366496.2_Missense_Mutation_p.F148L|NLRP3_ENST00000391827.2_Missense_Mutation_p.F148L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	148					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAAGCAGATTCCAGTGCATTG	0.512000													15	12					1.49906e-05	1.96538e-05	0.002450	1	0
SGIP1	84251	broad.mit.edu	37	1	67199564	67199564	+	Splice_Site	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:67199564G>C	ENST00000371037.4	+	21	2108		c.e21+1		SGIP1_ENST00000435165.2_Splice_Site|SGIP1_ENST00000371035.3_Splice_Site|SGIP1_ENST00000371039.1_Splice_Site|SGIP1_ENST00000237247.6_Splice_Site|SGIP1_ENST00000371036.3_Splice_Site	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1						positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CAAATATCAGGTAAGCCTATT	0.333000													14	95					0	0	0.003163	0	0
NCOR2	9612	broad.mit.edu	37	12	124856713	124856713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:124856713C>A	ENST00000356219.3	-	21	2817	c.2662G>T	c.(2662-2664)Gag>Tag	p.E888*	NCOR2_ENST00000429285.2_Nonsense_Mutation_p.E870*|NCOR2_ENST00000397355.1_Nonsense_Mutation_p.E871*|NCOR2_ENST00000405201.1_Nonsense_Mutation_p.E888*|NCOR2_ENST00000404621.1_Nonsense_Mutation_p.E870*|NCOR2_ENST00000404121.2_Nonsense_Mutation_p.E441*	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	888					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AGCGCCCCCTCGGCCGTGGCC	0.716000													10	48					9.31168e-06	1.24826e-05	0.001855	1	0
MROH8	140699	broad.mit.edu	37	20	35802495	35802495	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:35802495C>A	ENST00000400441.3	-	3	281	c.282G>T	c.(280-282)gtG>gtT	p.V94V	MROH8_ENST00000217333.8_Silent_p.V9V|MROH8_ENST00000441008.2_Silent_p.V80V					maestro heat-like repeat family member 8																		CACAGGGGATCACTACTTCTT	0.398000													6	38					0.00116845	0.00134841	0.001168	1	0
LGALS3BP	3959	broad.mit.edu	37	17	76968606	76968606	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:76968606T>A	ENST00000591778.1	-	5	674	c.557A>T	c.(556-558)cAg>cTg	p.Q186L	LGALS3BP_ENST00000262776.3_Silent_p.T270T			Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	0	BTB.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GGGCGTCCCCTGTGGCCACTG	0.652000													18	36					0	0	0.006122	0	0
UBE2O	63893	broad.mit.edu	37	17	74396252	74396252	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:74396252C>A	ENST00000319380.7	-	8	1195	c.1131G>T	c.(1129-1131)caG>caT	p.Q377H		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	377							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						AGCCCTCCCCCTGGGCGCAGT	0.562000													23	38					9.22233e-05	0.000114431	0.004656	1	0
MYH2	4620	broad.mit.edu	37	17	10424607	10424607	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:10424607C>T	ENST00000245503.5	-	40	6200	c.5816G>A	c.(5815-5817)aGt>aAt	p.S1939N	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.S1939N|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.S706N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1939					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCACTCTTCACTTATGACTTT	0.488000													60	88					0	0	0.003610	0	0
APPL1	26060	broad.mit.edu	37	3	57274570	57274570	+	Silent	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:57274570A>G	ENST00000288266.3	+	5	510	c.363A>G	c.(361-363)agA>agG	p.R121R		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	121	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTAAAGAAAGAGATCTGAAAG	0.373000													23	79					0	0	0.002780	0	0
SLIT1	6585	broad.mit.edu	37	10	98819872	98819872	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:98819872A>T	ENST00000266058.4	-	10	1230	c.985T>A	c.(985-987)Ttc>Atc	p.F329I	SLIT1_ENST00000371070.4_Missense_Mutation_p.F329I|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.F329I	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	329					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TAGGGTGAGAAGGCTCCAGGA	0.632000													9	66					0	0	0.006214	0	0
RSPO4	343637	broad.mit.edu	37	20	948683	948683	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:948683G>T	ENST00000217260.4	-	2	274	c.178C>A	c.(178-180)Cgg>Agg	p.R60R	RSPO4_ENST00000400634.2_Silent_p.R60R	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	60					Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						ATGCCTTCCCGGCGGATGAAC	0.622000													15	45					2.32078e-09	3.80903e-09	0.003163	1	0
XRCC5	7520	broad.mit.edu	37	2	216997068	216997068	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:216997068G>T	ENST00000392133.3	+	12	1532	c.1071G>T	c.(1069-1071)atG>atT	p.M357I	XRCC5_ENST00000392132.2_Missense_Mutation_p.M357I|XRCC5_ENST00000471649.1_3'UTR			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	357	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GATTCTTCATGGGAAATCAAG	0.378000								Non-homologous end-joining					17	89					2.37509e-13	4.52551e-13	0.010504	1	0
DGKI	9162	broad.mit.edu	37	7	137308241	137308241	+	Translation_Start_Site	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:137308241C>T	ENST00000453654.1	-	0	503				DGKI_ENST00000288490.5_Nonsense_Mutation_p.W288*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.W288*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.W288*			O75912	DGKI_HUMAN	diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCTGCTTGCACCAGGAACAGC	0.418000													38	156					0	0	0.006230	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560678	44560678	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:44560678G>T	ENST00000332567.4	-	1	1310	c.958C>A	c.(958-960)Cta>Ata	p.L320I	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	320					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGGCCGTCTAGACTGGGCCTC	0.622000													17	122					4.75885e-15	9.51157e-15	0.004990	1	0
FCGBP	8857	broad.mit.edu	37	19	40420037	40420037	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:40420037C>A	ENST00000221347.6	-	6	2964	c.2957G>T	c.(2956-2958)cGa>cTa	p.R986L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	986	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCAGTCACTCGTGCATTCCA	0.612000													18	34					2.35188e-11	4.22685e-11	0.006122	1	0
CRYL1	51084	broad.mit.edu	37	13	21063591	21063591	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:21063591G>A	ENST00000382812.1	-	4	356	c.128C>T	c.(127-129)tCc>tTc	p.S43F	CRYL1_ENST00000298248.7_Missense_Mutation_p.S65F			Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	65					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		CACACTCAGGGAGCCTTTCAG	0.488000											OREG0022283	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	36					0	0	0.003163	0	0
MEI1	150365	broad.mit.edu	37	22	42180619	42180619	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr22:42180619C>A	ENST00000401548.3	+	26	3217	c.3177C>A	c.(3175-3177)atC>atA	p.I1059I	MEI1_ENST00000300398.4_Silent_p.I67I|MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000400107.1_Silent_p.I392I	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	1059							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGCTGCCATCTTATGCTTCC	0.582000													10	14					3.07112e-06	4.20786e-06	0.000978	1	0
LSP1	4046	broad.mit.edu	37	11	1905217	1905217	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:1905217T>A	ENST00000406638.2	+	5	1670	c.368T>A	c.(367-369)aTc>aAc	p.I123N	LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000381775.1_Missense_Mutation_p.I313N|LSP1_ENST00000311604.3_Missense_Mutation_p.I185N|LSP1_ENST00000405957.2_Missense_Mutation_p.I123N	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	185					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GAGGGGACCATCGAACAGAGC	0.542000													20	80					0	0	0.007413	0	0
SLC10A6	345274	broad.mit.edu	37	4	87770143	87770143	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:87770143C>A	ENST00000273905.6	-	1	273	c.126G>T	c.(124-126)atG>atT	p.M42I	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	42						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TGAGCAGCCCCATCATCACAG	0.582000													12	23					7.03913e-09	1.11633e-08	0.001368	1	0
COL11A1	1301	broad.mit.edu	37	1	103404626	103404626	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:103404626C>A	ENST00000358392.2	-	44	3756	c.3439G>T	c.(3439-3441)Gga>Tga	p.G1147*	COL11A1_ENST00000512756.1_Nonsense_Mutation_p.G1019*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.G1135*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.G1096*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1135	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTTTTTGTCCCGGCTCACCA	0.333000													14	105					6.31663e-08	9.56747e-08	0.003163	1	0
CAPG	822	broad.mit.edu	37	2	85628971	85628971	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:85628971C>A	ENST00000263867.4	-	3	382	c.133G>T	c.(133-135)Ggg>Tgg	p.G45W	CAPG_ENST00000409921.1_Missense_Mutation_p.G45W|CAPG_ENST00000409670.1_Missense_Mutation_p.G45W|CAPG_ENST00000409724.1_Missense_Mutation_p.G45W	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN	capping protein (actin filament), gelsolin-like	45					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						TAGGAGTCCCCCGAGAAGAAG	0.602000													14	89					1.05317e-09	1.7602e-09	0.002450	1	0
FBN3	84467	broad.mit.edu	37	19	8176044	8176044	+	Missense_Mutation	SNP	C	C	G	rs117092804	by1000genomes	TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:8176044C>G	ENST00000600128.1	-	33	4522	c.4108G>C	c.(4108-4110)Gtg>Ctg	p.V1370L	FBN3_ENST00000601739.1_Missense_Mutation_p.V1370L|FBN3_ENST00000270509.2_Missense_Mutation_p.V1370L			Q75N90	FBN3_HUMAN	fibrillin 3	1370	EGF-like 21; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGAGGTCCACGTTCTCGGCA	0.657000													16	28					0	0	0.003163	0	0
TCF4	6925	broad.mit.edu	37	18	53128314	53128314	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:53128314C>G	ENST00000354452.3	-	5	851	c.240G>C	c.(238-240)atG>atC	p.M80I	TCF4_ENST00000568740.1_Missense_Mutation_p.M56I|TCF4_ENST00000564403.2_Missense_Mutation_p.M80I|TCF4_ENST00000566286.1_Missense_Mutation_p.M78I|RP11-619L19.1_ENST00000587660.1_RNA|TCF4_ENST00000537578.1_Missense_Mutation_p.M56I|TCF4_ENST00000567880.1_Missense_Mutation_p.M80I|TCF4_ENST00000565018.2_Missense_Mutation_p.M80I|TCF4_ENST00000566279.1_Missense_Mutation_p.M80I|TCF4_ENST00000564999.1_Missense_Mutation_p.M80I|TCF4_ENST00000540999.1_Missense_Mutation_p.M56I|TCF4_ENST00000398339.1_Missense_Mutation_p.M182I|TCF4_ENST00000356073.4_Missense_Mutation_p.M80I|TCF4_ENST00000568673.1_Missense_Mutation_p.M56I|TCF4_ENST00000543082.1_Missense_Mutation_p.M38I	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	80	Essential for MYOD1 inhibition (By similarity).				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CCCTGCTGGTCATGTGGTCAT	0.348000													13	59					0	0	0.001855	0	0
THRA	7067	broad.mit.edu	37	17	38240228	38240228	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:38240228C>T	ENST00000450525.2	+	5	854	c.363C>T	c.(361-363)gcC>gcT	p.A121A	THRA_ENST00000394121.4_Silent_p.A121A|THRA_ENST00000584985.1_Silent_p.A121A|THRA_ENST00000264637.4_Silent_p.A121A|THRA_ENST00000546243.1_Silent_p.A121A	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	121					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGGCATGGCCATGGACTGTA	0.587000													13	34					0	0	0.001855	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359291	64359291	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:64359291G>T	ENST00000377574.1	+	1	1010	c.263G>T	c.(262-264)tGc>tTc	p.C88F	SLC22A12_ENST00000377567.2_Missense_Mutation_p.C88F|SLC22A12_ENST00000336464.7_Missense_Mutation_p.C88F|SLC22A12_ENST00000377572.1_Missense_Mutation_p.C88F|SLC22A12_ENST00000473690.1_5'UTR	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	88					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CCCCACCAGTGCCGCCGCTTC	0.677000													3	25					0.00909568	0.00995582	0.009096	1	0
TTC37	9652	broad.mit.edu	37	5	94803690	94803690	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:94803690C>G	ENST00000358746.2	-	42	4798	c.4500G>C	c.(4498-4500)gaG>gaC	p.E1500D		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1500							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GACGCCGTGTCTCTCTGGAAA	0.363000													6	45					0	0	0.001168	0	0
COL11A1	1301	broad.mit.edu	37	1	103461466	103461466	+	Splice_Site	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:103461466T>C	ENST00000358392.2	-	28	2649		c.e28-2		COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATCTGCTCCCTGTGGAATAAA	0.338000													25	111					0	0	0.005443	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181051	140181051	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:140181051T>A	ENST00000522353.2	+	1	269	c.269T>A	c.(268-270)aTa>aAa	p.I90K	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.I90K|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTCTCGGATAGACCGCGAG	0.597000													38	143					0	0	0.006230	0	0
EPHB3	2049	broad.mit.edu	37	3	184294872	184294872	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:184294872A>G	ENST00000330394.2	+	5	1707	c.1255A>G	c.(1255-1257)Acg>Gcg	p.T419A	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	419	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCTGGCCCACACGCGCTACAC	0.637000													7	36					0	0	0.003080	0	0
ABCC8	6833	broad.mit.edu	37	11	17418839	17418839	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:17418839T>C	ENST00000302539.4	-	32	4017	c.3892A>G	c.(3892-3894)Atg>Gtg	p.M1298V	ABCC8_ENST00000389817.3_Missense_Mutation_p.M1297V	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1297	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TTCCTCACCATCCAGTTGAGG	0.592000													7	33					0	0	0.001984	0	0
JPH1	56704	broad.mit.edu	37	8	75156961	75156961	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:75156961C>A	ENST00000342232.4	-	4	1748	c.1708G>T	c.(1708-1710)Ggc>Tgc	p.G570C	JPH1_ENST00000518195.1_5'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	570					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GATCCATCGCCGTCCTCCACG	0.562000													21	94					2.4624e-09	4.02867e-09	0.008871	1	0
KRT73	319101	broad.mit.edu	37	12	53002214	53002214	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:53002214G>T	ENST00000305748.3	-	9	1423	c.1389C>A	c.(1387-1389)gcC>gcA	p.A463A	RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	463	Tail.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGCCATCCCGGCCATGGAGC	0.622000													6	18					3.59834e-05	4.61623e-05	0.001168	1	0
NFU1	27247	broad.mit.edu	37	2	69633215	69633215	+	Splice_Site	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:69633215C>A	ENST00000410022.2	-	6	690		c.e6-1		NFU1_ENST00000394305.1_Splice_Site|NFU1_ENST00000471185.1_Splice_Site|NFU1_ENST00000462320.1_Splice_Site|NFU1_ENST00000303698.3_Splice_Site	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)						iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						TCTTCAGATCCTAGAAATAAT	0.323000													11	48					0.000673444	0.000787716	0.008291	1	0
AFF2	2334	broad.mit.edu	37	X	148038016	148038016	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:148038016C>A	ENST00000370460.2	+	11	2920	c.2441C>A	c.(2440-2442)cCt>cAt	p.P814H	AFF2_ENST00000342251.3_Missense_Mutation_p.P781H|AFF2_ENST00000370457.5_Missense_Mutation_p.P781H|AFF2_ENST00000286437.5_Missense_Mutation_p.P455H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	814					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCTAGAGTACCTGGCCACAGC	0.512000													15	31					1.5739e-10	2.73975e-10	0.004007	1	0
USH2A	7399	broad.mit.edu	37	1	216500996	216500996	+	Splice_Site	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:216500996C>A	ENST00000366943.2	-	5	1171	c.784_splice	c.e5-1	p.G262_splice	USH2A_ENST00000366942.3_Splice_Site_p.G262_splice|USH2A_ENST00000307340.3_Splice_Site_p.G262_splice			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	262					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGCTCTAAACCTGCAAATAC	0.358000										HNSCC(13;0.011)			18	55					4.96729e-08	7.5458e-08	0.008871	1	0
TRAV21	28662	broad.mit.edu	37	14	22521310	22521310	+	RNA	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:22521310G>A	ENST00000390449.3	+	0	338																											CCTCTGTGCTGTGAGGCACAG	0.468000													3	16					0	0	0.009096	0	0
VCAN	1462	broad.mit.edu	37	5	82834388	82834388	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:82834388G>T	ENST00000265077.3	+	8	6131	c.5566G>T	c.(5566-5568)Gta>Tta	p.V1856L	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.V869L|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1856	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTCATTAAACGTAGAGTATGC	0.488000													34	146					6.53348e-20	1.41528e-19	0.003755	1	0
ZNF226	7769	broad.mit.edu	37	19	44681750	44681750	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:44681750G>T	ENST00000590089.1	+	7	2702	c.2335G>T	c.(2335-2337)Ggt>Tgt	p.G779C	ZNF226_ENST00000337433.5_Missense_Mutation_p.G779C|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.G779C			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AATCCATGTTGGTGATAAATC	0.373000													14	47					4.36969e-10	7.41509e-10	0.001855	1	0
ACOT4	122970	broad.mit.edu	37	14	74062064	74062064	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:74062064G>T	ENST00000326303.4	+	3	1226	c.972G>T	c.(970-972)caG>caT	p.Q324H		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	324					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TTGTTGGTCAGGATGACCATA	0.493000													16	47					1.02788e-11	1.8668e-11	0.004990	1	0
CDH10	1008	broad.mit.edu	37	5	24491713	24491713	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:24491713G>T	ENST00000264463.4	-	11	2355	c.1848C>A	c.(1846-1848)gcC>gcA	p.A616A	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	616					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGAGGAGGATGGCGATCAAGG	0.488000										HNSCC(23;0.051)			11	102					3.07112e-06	4.20786e-06	0.000978	1	0
HDAC5	10014	broad.mit.edu	37	17	42169822	42169822	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:42169822C>T	ENST00000225983.6	-	8	1172	c.849G>A	c.(847-849)ctG>ctA	p.L283L	HDAC5_ENST00000586802.1_Silent_p.L282L|HDAC5_ENST00000336057.5_Silent_p.L282L|HDAC5_ENST00000393622.2_Silent_p.L282L			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	282					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CCTTGCGACGCAGGAGGGGAC	0.537000													9	19					0	0	0.004482	0	0
CSRNP3	80034	broad.mit.edu	37	2	166514462	166514462	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:166514462G>C	ENST00000314499.7	+	5	716	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	CSRNP3_ENST00000342316.4_Missense_Mutation_p.E114Q|CSRNP3_ENST00000409420.1_Missense_Mutation_p.E146Q	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	114					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AAGGGAGCAGGAGAGGCTCCA	0.512000													12	45					0	0	0.000978	0	0
SPEF2	79925	broad.mit.edu	37	5	35727904	35727904	+	Silent	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:35727904T>C	ENST00000440995.2	+	21	3027	c.3027T>C	c.(3025-3027)taT>taC	p.Y1009Y	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.Y1014Y			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1014					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)			AATGGGTCTATGTGAATGAAC	0.423000													15	135					0	0	0.004007	0	0
ZNF812	729648	broad.mit.edu	37	19	9800969	9800969	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:9800969G>T	ENST00000457674.2	-	5	1728	c.1210C>A	c.(1210-1212)Ctt>Att	p.L404I	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGAACATTAAGGGGTGAGGAA	0.393000													14	53					3.27435e-08	5.02824e-08	0.002450	1	0
UVRAG	7405	broad.mit.edu	37	11	75599907	75599907	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:75599907G>T	ENST00000356136.3	+	5	708	c.467G>T	c.(466-468)gGg>gTg	p.G156V	UVRAG_ENST00000528420.1_Missense_Mutation_p.G55V	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	156					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						ATAATTTTTGGGCTGAATGAT	0.348000													16	51					8.60227e-14	1.6533e-13	0.004007	1	0
NDST1	3340	broad.mit.edu	37	5	149932812	149932812	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:149932812A>T	ENST00000261797.6	+	15	3069	c.2567A>T	c.(2566-2568)aAc>aTc	p.N856I	NDST1_ENST00000523767.1_Missense_Mutation_p.N799I|NDST1_ENST00000521752.1_3'UTR	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	856	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGGACCACAACATCGAGCTC	0.532000													45	191					0	0	0.002522	0	0
TF	7018	broad.mit.edu	37	3	133495917	133495917	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:133495917G>T	ENST00000402696.3	+	16	2382	c.1897G>T	c.(1897-1899)Gac>Tac	p.D633Y	TF_ENST00000264998.3_Missense_Mutation_p.D506Y	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	633	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	p.D633Y(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CAACGTAACTGACTGCTCGGG	0.463000													8	45					0.000442599	0.000525629	0.006214	1	0
ROCK1P1	727758	broad.mit.edu	37	18	117050	117050	+	RNA	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:117050A>T	ENST00000576266.1	+	0	275																											TAGATACTATATGCAAATGAA	0.313000													4	29					0	0	0.009096	0	0
IGDCC4	57722	broad.mit.edu	37	15	65681694	65681694	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:65681694C>T	ENST00000352385.2	-	14	2673	c.2464G>A	c.(2464-2466)Gca>Aca	p.A822T		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	822	Fibronectin type-III 4.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GACTGCACTGCAAACTCGTAT	0.577000													10	32					0	0	0.006214	0	0
BRAF	673	broad.mit.edu	37	7	140453149	140453149	+	Missense_Mutation	SNP	C	C	G	rs121913361		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:140453149C>G	ENST00000288602.6	-	15	1846	c.1786G>C	c.(1786-1788)Ggt>Cgt	p.G596R		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	596	Protein kinase.		G -> R (in a colorectal adenocarcinoma sample; somatic mutation).|G -> V (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G596R(6)|p.G596fs*2(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAGCTAGACCAAAATCACCT	0.388000	G596R(NCIH508_LARGE_INTESTINE)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				35	95					0	0	0.004878	0	0
P2RY6	5031	broad.mit.edu	37	11	73008276	73008276	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:73008276C>T	ENST00000393590.2	+	2	1012	c.713C>T	c.(712-714)gCc>gTc	p.A238V	P2RY6_ENST00000393591.1_Missense_Mutation_p.A238V|P2RY6_ENST00000349767.2_Missense_Mutation_p.A238V|P2RY6_ENST00000542092.1_Missense_Mutation_p.A238V|P2RY6_ENST00000540342.1_Missense_Mutation_p.A238V|P2RY6_ENST00000540124.1_Missense_Mutation_p.A238V|P2RY6_ENST00000393592.2_Missense_Mutation_p.A238V|P2RY6_ENST00000538328.1_Missense_Mutation_p.A238V	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	238					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GGCAAGGCGGCCCGCATGGCC	0.682000													15	56					0	0	0.006122	0	0
CD101	9398	broad.mit.edu	37	1	117560996	117560996	+	Missense_Mutation	SNP	C	C	G	rs35845264		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:117560996C>G	ENST00000256652.4	+	6	1889	c.1831C>G	c.(1831-1833)Caa>Gaa	p.Q611E	CD101_ENST00000369470.1_Missense_Mutation_p.Q611E	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	611	Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATCCCGGTTCCAAAAGAAGAC	0.473000													14	95					0	0	0.003163	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558441	140558441	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:140558441G>T	ENST00000239444.2	+	1	1071	c.826G>T	c.(826-828)Gga>Tga	p.G276*		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		276	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGTCAACGGAGAGATTTC	0.423000													37	128					8.16277e-20	1.76575e-19	0.006999	1	0
TTC13	79573	broad.mit.edu	37	1	231059666	231059666	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:231059666C>A	ENST00000366661.4	-	15	1742	c.1735G>T	c.(1735-1737)Gac>Tac	p.D579Y	TTC13_ENST00000414259.1_Missense_Mutation_p.D526Y|TTC13_ENST00000366662.4_Missense_Mutation_p.D526Y	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	579							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ACGGGCTGGTCTGGGTCAGCA	0.403000													28	66					3.65163e-15	7.32688e-15	0.006320	1	0
SALL1	6299	broad.mit.edu	37	16	51175067	51175067	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:51175067C>G	ENST00000440970.1	-	2	1206	c.775G>C	c.(775-777)Gtg>Ctg	p.V259L	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.V356L	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	356					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTTGAAGCCACTTTTTCAGAG	0.507000													14	50					0	0	0.001855	0	0
MIEF1	54471	broad.mit.edu	37	22	39908303	39908303	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr22:39908303G>C	ENST00000325301.2	+	5	813	c.389G>C	c.(388-390)cGa>cCa	p.R130P	SMCR7L_ENST00000402881.1_Missense_Mutation_p.R130P|SMCR7L_ENST00000404569.1_Missense_Mutation_p.R130P	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN		130						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					AAGAAGTCACGACTCCGCATG	0.602000													7	28					0	0	0.001984	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626899	108626899	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:108626899G>T	ENST00000264047.2	+	9	1601	c.1325G>T	c.(1324-1326)gGc>gTc	p.G442V	SLC5A7_ENST00000540517.1_Missense_Mutation_p.G337V|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G442V	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	442					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TATGTTTCTGGCCTCTTCCTG	0.453000													17	77					4.7546e-09	7.62605e-09	0.004007	1	0
WNK3	65267	broad.mit.edu	37	X	54337652	54337652	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:54337652G>T	ENST00000354646.2	-	3	1048	c.610C>A	c.(610-612)Ccc>Acc	p.P204T	WNK3_ENST00000375159.2_Missense_Mutation_p.P204T|WNK3_ENST00000375169.3_Missense_Mutation_p.P204T	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	204	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ACTATATTGGGGTGCTGGAGA	0.373000													10	26					4.68919e-08	7.14433e-08	0.008291	1	0
APC	324	broad.mit.edu	37	5	112173738	112173738	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:112173738C>T	ENST00000457016.1	+	16	2827	c.2447C>T	c.(2446-2448)aCt>aTt	p.T816I	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.T816I|APC_ENST00000257430.4_Missense_Mutation_p.T816I			P25054	APC_HUMAN	adenomatous polyposis coli	816	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AATTTTAATACTGGCAACATG	0.383000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			12	90					0	0	0.000978	0	0
USP32P3	347716	broad.mit.edu	37	17	20319881	20319881	+	RNA	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:20319881G>T	ENST00000583574.2	+	0	210																											AGCCGGATCAGGTCCTGGGGC	0.547000													59	99					7.10676e-39	1.6354e-38	0.003610	1	0
CSPG4	1464	broad.mit.edu	37	15	75968836	75968836	+	Silent	SNP	G	G	T	rs150399169		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:75968836G>T	ENST00000308508.5	-	10	6116	c.6024C>A	c.(6022-6024)ggC>ggA	p.G2008G	CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	2008	Cysteine-containing.|Neurite growth inhibition (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	p.G2008G(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGACCACCTCGCCCTGGTCTA	0.597000													19	85					1.55795e-14	3.04329e-14	0.001882	1	0
CCNO	10309	broad.mit.edu	37	5	54527328	54527328	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:54527328C>A	ENST00000282572.4	-	3	1084	c.928G>T	c.(928-930)Gag>Tag	p.E310*		NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	310					cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			AGCGCCGCCTCCGGGTGGTCT	0.637000													6	35					0.000157383	0.000191602	0.003080	1	0
CAMKV	79012	broad.mit.edu	37	3	49896755	49896755	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:49896755C>A	ENST00000477224.1	-	11	1980	c.1502G>T	c.(1501-1503)aGc>aTc	p.S501I	CAMKV_ENST00000296471.7_Missense_Mutation_p.S473I|CAMKV_ENST00000466940.1_Missense_Mutation_p.S427I|CAMKV_ENST00000463537.1_Missense_Mutation_p.A433S|CAMKV_ENST00000488336.1_Missense_Mutation_p.S470I|CAMKV_ENST00000467248.1_Missense_Mutation_p.S426I			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	501						cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCTACTCAGCTGGCCTCCTC	0.627000													23	48					3.28513e-13	6.22889e-13	0.003954	1	0
XIRP2	129446	broad.mit.edu	37	2	168100182	168100182	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:168100182A>T	ENST00000409195.1	+	9	2369	c.2280A>T	c.(2278-2280)gaA>gaT	p.E760D	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E538D|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E760D|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	585					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCACAGAGAAGACGTTGAAA	0.363000													19	73					0	0	0.010504	0	0
AKAP9	10142	broad.mit.edu	37	7	91621525	91621525	+	Splice_Site	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:91621525G>T	ENST00000359028.2	+	5	666	c.441_splice	c.e5+1	p.R147_splice	AKAP9_ENST00000358100.2_Splice_Site_p.R147_splice|AKAP9_ENST00000356239.3_Splice_Site_p.R135_splice|AKAP9_ENST00000394564.1_Splice_Site_p.R135_splice			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	147					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATTTATTAAGGGTACAGTATT	0.294000			T	BRAF	papillary thyroid								29	126					1.74807e-11	3.14896e-11	0.002096	1	0
SUPT20H	55578	broad.mit.edu	37	13	37595648	37595648	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:37595648G>C	ENST00000360252.4	-	21	2003	c.1756C>G	c.(1756-1758)Cta>Gta	p.L586V	SUPT20H_ENST00000475892.1_Missense_Mutation_p.L664V|SUPT20H_ENST00000356185.3_Missense_Mutation_p.L586V|SUPT20H_ENST00000464744.1_Missense_Mutation_p.L586V|SUPT20H_ENST00000350612.6_Missense_Mutation_p.L585V	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		CCTGAGGGTAGAAGGCCGCTC	0.502000													4	28					0	0	0.009096	0	0
CACNA1I	8911	broad.mit.edu	37	22	40076991	40076991	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr22:40076991C>G	ENST00000336649.4	+	37	5616	c.5616C>G	c.(5614-5616)atC>atG	p.I1872M	CACNA1I_ENST00000402142.3_Missense_Mutation_p.I1866M|CACNA1I_ENST00000407673.1_Missense_Mutation_p.I1831M|CACNA1I_ENST00000401624.1_Missense_Mutation_p.I1866M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.I1831M|CACNA1I_ENST00000400164.3_Missense_Mutation_p.I1831M			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1866					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCTCGTCCATCCTGCTGGGTG	0.652000													6	20					0	0	0.001168	0	0
BCAT1	586	broad.mit.edu	37	12	25002779	25002779	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:25002779C>A	ENST00000261192.7	-	6	1141	c.615G>T	c.(613-615)tgG>tgT	p.W205C	BCAT1_ENST00000539780.1_Missense_Mutation_p.W168C|BCAT1_ENST00000539282.1_Missense_Mutation_p.W217C|BCAT1_ENST00000538118.1_Missense_Mutation_p.W204C|BCAT1_ENST00000342945.5_Missense_Mutation_p.W144C|BCAT1_ENST00000544418.1_5'UTR	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	205					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	TGGGATTGGCCCACAGGGACA	0.483000													25	123					9.57634e-11	1.67451e-10	0.003330	1	0
CDK12	51755	broad.mit.edu	37	17	37627398	37627398	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:37627398A>G	ENST00000447079.4	+	2	1346	c.1313A>G	c.(1312-1314)aAg>aGg	p.K438R	CDK12_ENST00000430627.2_Missense_Mutation_p.K438R	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	438					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GTAGAGGCTAAGGATTCAGGT	0.428000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			42	73					0	0	0.006999	0	0
PABPC5	140886	broad.mit.edu	37	X	90690941	90690941	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:90690941T>C	ENST00000312600.3	+	2	579	c.365T>C	c.(364-366)cTg>cCg	p.L122P	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	122	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AATAGGGCCCTGTTTTACTTA	0.438000													27	55					0	0	0.004656	0	0
ZNF645	158506	broad.mit.edu	37	X	22292142	22292142	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:22292142C>A	ENST00000323684.1	+	1	1078	c.1034C>A	c.(1033-1035)tCt>tAt	p.S345Y		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	345						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						GCTCCCCAGTCTCAAAATGGT	0.428000													19	28					5.3912e-06	7.29647e-06	0.006122	1	0
TMEM177	80775	broad.mit.edu	37	2	120439338	120439338	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:120439338G>T	ENST00000424086.1	+	2	1382	c.909G>T	c.(907-909)agG>agT	p.R303S	TMEM177_ENST00000401466.1_Missense_Mutation_p.R303S|TMEM177_ENST00000272521.6_Missense_Mutation_p.R303S|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	303						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					AGATGTGGAGGGGGATGCTCA	0.577000													8	54					4.68919e-08	7.14433e-08	0.008291	1	0
NYNRIN	57523	broad.mit.edu	37	14	24884911	24884911	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:24884911G>T	ENST00000382554.3	+	9	4274	c.3956G>T	c.(3955-3957)cGt>cTt	p.R1319L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1319					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGCTTCTACCGTGAGGATGAG	0.587000													34	190					1.30091e-30	2.95852e-30	0.006999	1	0
XPNPEP1	7511	broad.mit.edu	37	10	111629746	111629746	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:111629746C>T	ENST00000369680.4	-	19	1857	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.E466K|U4_ENST00000607255.1_RNA|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.E580K|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.E556K	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	537					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		ACAACATTCTCAATGCGAATT	0.413000													4	49					0	0	0.009096	0	0
RBKS	64080	broad.mit.edu	37	2	28113199	28113199	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:28113199C>A	ENST00000302188.3	-	1	766	c.14G>T	c.(13-15)gGg>gTg	p.G5V	RBKS_ENST00000444339.2_Missense_Mutation_p.G5V	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	5					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					CTGGGGTTCCCCAGACGCCGC	0.647000													5	15					3.59834e-05	4.61623e-05	0.001168	1	0
TTC23L	153657	broad.mit.edu	37	5	34863077	34863077	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:34863077T>A	ENST00000505624.1	+	5	557	c.454T>A	c.(454-456)Tca>Aca	p.S152T	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	152							binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AAATACGACCTCAAATAAGGA	0.517000													54	56					0	0	0.003610	0	0
GABRG1	2565	broad.mit.edu	37	4	46053574	46053574	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:46053574A>G	ENST00000295452.4	-	8	1165	c.998T>C	c.(997-999)aTg>aCg	p.M333T		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	333					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AAAGAGATCCATCGCAGTCAC	0.383000													32	55					0	0	0.002096	0	0
OTUD6A	139562	broad.mit.edu	37	X	69283009	69283009	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:69283009G>T	ENST00000338352.2	+	1	669	c.635G>T	c.(634-636)cGc>cTc	p.R212L		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	212	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AACATCGTGCGCACCACGGCA	0.612000													7	10					2.17888e-05	2.83272e-05	0.006214	1	0
NR1I2	8856	broad.mit.edu	37	3	119530467	119530467	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:119530467T>A	ENST00000393716.2	+	4	2252	c.413T>A	c.(412-414)cTg>cAg	p.L138Q	NR1I2_ENST00000466380.1_Missense_Mutation_p.L138Q|NR1I2_ENST00000337940.4_Missense_Mutation_p.L177Q	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	138	Hinge.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	ACTCAGCCACTGGGAGTGCAG	0.557000													3	19					0	0	0.004672	0	0
BCL2L11	10018	broad.mit.edu	37	2	111881576	111881576	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:111881576G>T	ENST00000393256.3	+	2	527	c.254G>T	c.(253-255)aGa>aTa	p.R85I	BCL2L11_ENST00000357757.2_Missense_Mutation_p.R85I|BCL2L11_ENST00000405953.1_Intron|BCL2L11_ENST00000337565.5_Intron|BCL2L11_ENST00000393253.2_Intron|BCL2L11_ENST00000308659.8_Intron	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	85					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						TTTATGAGAAGATCCTCCCTG	0.577000													17	66					0.000422831	0.000504859	0.004007	1	0
CDH8	1006	broad.mit.edu	37	16	61687823	61687823	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:61687823G>T	ENST00000577390.1	-	12	3043	c.2089C>A	c.(2089-2091)Cgt>Agt	p.R697S	CDH8_ENST00000577730.1_Splice_Site_p.R697_splice|CDH8_ENST00000299345.6_Missense_Mutation_p.R697S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	697					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATATCCTTACGGGGTAAAAAT	0.418000													31	154					9.65021e-13	1.80549e-12	0.002096	1	0
FAM135B	51059	broad.mit.edu	37	8	139209830	139209830	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:139209830G>C	ENST00000395297.1	-	8	922	c.752C>G	c.(751-753)gCt>gGt	p.A251G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	251										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCCCGGTAAGCGTGGAGGAG	0.592000										HNSCC(54;0.14)			12	34					0	0	0.000978	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123220813	123220813	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:123220813C>A	ENST00000349780.4	-	20	2469	c.2290G>T	c.(2290-2292)Gca>Tca	p.A764S	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.A764S|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.A764S|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.A732S	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	764					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAGCCAGGTGCGTGGGCCCCA	0.458000													18	71					2.39187e-15	4.82418e-15	0.008871	1	0
FDXR	2232	broad.mit.edu	37	17	72862601	72862601	+	Silent	SNP	C	C	A	rs146885267		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:72862601C>A	ENST00000455107.2	-	5	644	c.228G>T	c.(226-228)ccG>ccT	p.P76P	FDXR_ENST00000582944.1_Silent_p.P112P|FDXR_ENST00000413947.2_Silent_p.P151P|FDXR_ENST00000293195.5_Silent_p.P120P|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000583917.1_Silent_p.P121P|FDXR_ENST00000544854.1_Silent_p.P68P|FDXR_ENST00000442102.2_Silent_p.P163P|FDXR_ENST00000581530.1_Silent_p.P120P|FDXR_ENST00000581969.1_5'UTR			P22570	ADRO_HUMAN	ferredoxin reductase	120					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCGCAGCTCCGGCACCGTCA	0.667000													4	9					0.00024832	0.000300425	0.009096	1	0
TLR4	7099	broad.mit.edu	37	9	120476921	120476921	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:120476921A>T	ENST00000355622.6	+	3	2616	c.2515A>T	c.(2515-2517)Atc>Ttc	p.I839F	TLR4_ENST00000394487.4_Missense_Mutation_p.I799F|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	839					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AGCAACATCTATCTGAAGAGG	0.453000													16	59					0	0	0.004990	0	0
KIAA0195	9772	broad.mit.edu	37	17	73489596	73489596	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:73489596G>T	ENST00000314256.7	+	17	2505	c.2111G>T	c.(2110-2112)gGc>gTc	p.G704V	KIAA0195_ENST00000375248.5_Missense_Mutation_p.G714V|KIAA0195_ENST00000579208.1_Missense_Mutation_p.G355V	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	704					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGTCCCATGGCACCGCTGAT	0.592000													15	28					1.99824e-07	2.94327e-07	0.004990	1	0
ZBTB41	360023	broad.mit.edu	37	1	197128562	197128562	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:197128562T>C	ENST00000367405.4	-	10	2725	c.2657A>G	c.(2656-2658)tAt>tGt	p.Y886C	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	886					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGTTCCAAGATAAGATTGTTC	0.358000													70	168					0	0	0.003610	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528734	77528734	+	Silent	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:77528734A>G	ENST00000373304.3	-	3	802	c.510T>C	c.(508-510)aaT>aaC	p.N170N		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	170					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AGCACTTGGTATTATTTTTCT	0.353000													9	23					0	0	0.008291	0	0
CLASP1	23332	broad.mit.edu	37	2	122206698	122206698	+	Splice_Site	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:122206698T>C	ENST00000263710.4	-	17	1913		c.e17-2		CLASP1_ENST00000545861.1_Splice_Site|CLASP1_ENST00000541377.1_Splice_Site|CLASP1_ENST00000541859.1_Splice_Site|CLASP1_ENST00000409078.3_Splice_Site|CLASP1_ENST00000397587.3_Splice_Site|CLASP1_ENST00000455322.2_Splice_Site	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1						axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CAGTAACATCTAGAGGAAACA	0.478000													3	28					0	0	0.009096	0	0
KIRREL	55243	broad.mit.edu	37	1	158061178	158061178	+	Missense_Mutation	SNP	G	G	T	rs139886740		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:158061178G>T	ENST00000368172.1	+	7	757	c.745G>T	c.(745-747)Gtg>Ttg	p.V249L	KIRREL_ENST00000416935.2_Missense_Mutation_p.V335L|KIRREL_ENST00000360089.4_Missense_Mutation_p.V271L|KIRREL_ENST00000368173.3_Missense_Mutation_p.V451L|KIRREL_ENST00000359209.6_Missense_Mutation_p.V435L|KIRREL_ENST00000392272.2_Missense_Mutation_p.V332L			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	435	Ig-like C2-type 3.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CTTCTTGGAGGTGGGGACCCT	0.582000													7	74					0.00198382	0.00225084	0.001984	1	0
OR6T1	219874	broad.mit.edu	37	11	123814457	123814457	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:123814457C>A	ENST00000321252.2	-	1	123	c.89G>T	c.(88-90)gGg>gTg	p.G30V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CACCATTAACCCCAGGAACAC	0.483000													17	93					7.05477e-17	1.46872e-16	0.004990	1	0
OTOGL	283310	broad.mit.edu	37	12	80665571	80665571	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:80665571G>A	ENST00000458043.2	+	23	2641	c.2635G>A	c.(2635-2637)Ggc>Agc	p.G879S	OTOGL_ENST00000547103.1_Missense_Mutation_p.G879S	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTGTATAAGTGGCTGTGTTTG	0.433000													16	52					0	0	0.003163	0	0
DRD1	1812	broad.mit.edu	37	5	174869848	174869848	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:174869848C>T	ENST00000393752.2	-	2	1247	c.255G>A	c.(253-255)gaG>gaA	p.E85E		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	85					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	AGCCAGCAATCTCAGCCACTG	0.552000													5	16					0	0	0.000602	0	0
PFDN1	5201	broad.mit.edu	37	5	139682658	139682658	+	Translation_Start_Site	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:139682658T>C	ENST00000261813.4	-	1	48	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	PFDN1_ENST00000510217.1_Start_Codon_SNP_p.M1V|PFDN1_ENST00000524074.1_Start_Codon_SNP_p.M1V	NM_002622.4	NP_002613.2	O60925	PFD1_HUMAN	prefoldin subunit 1	1					'de novo' posttranslational protein folding|cell cycle	prefoldin complex	sequence-specific DNA binding transcription factor activity|unfolded protein binding			endometrium(2)|large_intestine(3)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCGGCCATCTTGGTGCAC	0.557000													58	304					0	0	0.003610	0	0
C6	729	broad.mit.edu	37	5	41158800	41158800	+	Silent	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:41158800A>T	ENST00000263413.3	-	13	2208	c.1944T>A	c.(1942-1944)gtT>gtA	p.V648V	C6_ENST00000337836.5_Silent_p.V648V	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	648	C5b-binding domain.|Sushi 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTCTGGAGGAACTGGCTGAG	0.403000													9	76					0	0	0.006214	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604598	58604598	+	Silent	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:58604598T>C	ENST00000287275.1	-	5	756	c.366A>G	c.(364-366)tcA>tcG	p.S122S	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Silent_p.S122S	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	122						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CTACCTGCACTGATTTTGAAG	0.408000													20	109					0	0	0.007413	0	0
STX16	8675	broad.mit.edu	37	20	57244416	57244416	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:57244416G>T	ENST00000371141.4	+	5	1187	c.463G>T	c.(463-465)Ggg>Tgg	p.G155W	STX16_ENST00000358029.4_Missense_Mutation_p.G151W|STX16_ENST00000359617.4_Missense_Mutation_p.G102W|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.G155W|STX16_ENST00000361770.5_Missense_Mutation_p.G138W|STX16_ENST00000361830.3_Missense_Mutation_p.G155W|STX16_ENST00000496003.1_Intron|STX16_ENST00000371132.4_Missense_Mutation_p.G134W|STX16_ENST00000355957.5_Missense_Mutation_p.G138W	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	155					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			CGAGCAGGAGGGGCGGCTGCT	0.682000													7	13					0.000157383	0.000191602	0.003080	1	0
DCSTAMP	81501	broad.mit.edu	37	8	105360835	105360835	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:105360835G>T	ENST00000297581.2	+	2	104	c.55G>T	c.(55-57)Gtg>Ttg	p.V19L	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.V19L	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	19					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GGAGATTTACGTGTCTCCAAG	0.483000													15	78					6.31663e-08	9.56747e-08	0.003163	1	0
SETBP1	26040	broad.mit.edu	37	18	42531573	42531573	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:42531573G>T	ENST00000282030.5	+	4	2564	c.2268G>T	c.(2266-2268)ccG>ccT	p.P756P		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	756						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTAGCCAGCCGGATGTTCCAG	0.567000									Schinzel-Giedion syndrome				9	21					2.27111e-07	3.32311e-07	0.001368	1	0
PXDNL	137902	broad.mit.edu	37	8	52321494	52321494	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:52321494G>T	ENST00000356297.4	-	17	2790	c.2690C>A	c.(2689-2691)tCc>tAc	p.S897Y	PXDNL_ENST00000543296.1_Missense_Mutation_p.S897Y	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	897					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTAAACGTTGGAGCCATCGAT	0.627000													11	40					0.000978159	0.00113984	0.000978	1	0
NMUR1	10316	broad.mit.edu	37	2	232389988	232389988	+	Silent	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:232389988C>G	ENST00000305141.4	-	3	1180	c.1047G>C	c.(1045-1047)tcG>tcC	p.S349S		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	349					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGTTGGCCGCCGAGCCCAGGT	0.647000													9	60					0	0	0.006214	0	0
SFRP5	6425	broad.mit.edu	37	10	99527378	99527378	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:99527378G>T	ENST00000266066.3	-	3	965	c.847C>A	c.(847-849)Cgc>Agc	p.R283S		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	283	NTR.				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		TTGTCCCAGCGGTAGACGGCC	0.597000													7	33					2.0095e-06	2.78777e-06	0.001984	1	0
GCLC	2729	broad.mit.edu	37	6	53374019	53374019	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:53374019C>A	ENST00000229416.6	-	7	1266	c.783G>T	c.(781-783)gaG>gaT	p.E261D		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	261					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	GGTATCTGGCCTCAGATATAC	0.368000													9	45					0.00621372	0.00689376	0.006214	1	0
ZNF326	284695	broad.mit.edu	37	1	90486399	90486399	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:90486399G>T	ENST00000340281.4	+	10	1366	c.1223G>T	c.(1222-1224)aGc>aTc	p.S408I	ZNF326_ENST00000455342.2_Missense_Mutation_p.S202I|ZNF326_ENST00000370447.2_Missense_Mutation_p.S319I	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GTTCATTGCAGCGCTTGCAGT	0.358000													15	99					4.7546e-09	7.62605e-09	0.004007	1	0
PKD2L1	9033	broad.mit.edu	37	10	102056933	102056933	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:102056933G>T	ENST00000318222.3	-	6	1371	c.989C>A	c.(988-990)gCc>gAc	p.A330D	PKD2L1_ENST00000338519.3_Missense_Mutation_p.A255D|PKD2L1_ENST00000353274.3_Missense_Mutation_p.A330D	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	330					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GGATGGGATGGCACCTCCTGT	0.572000													6	49					0.000157383	0.000191602	0.003080	1	0
TRPV3	162514	broad.mit.edu	37	17	3417216	3417216	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:3417216C>A	ENST00000301365.4	-	18	2502	c.2371G>T	c.(2371-2373)Gtg>Ttg	p.V791L	TRPV3_ENST00000576742.1_Missense_Mutation_p.V790L			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	790						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CGCTTCTACACCGAGGTTTCC	0.517000													34	52					2.75727e-19	5.88243e-19	0.004878	1	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53927540	53927540	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:53927540C>A	ENST00000263634.3	-	8	1240	c.1106G>T	c.(1105-1107)tGc>tTc	p.C369F	GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000406625.2_Missense_Mutation_p.C404F|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.C296F|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.C407F|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.C296F	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		404					intracellular signal transduction												TCCCAATGAGCAACCTTTCCT	0.373000													13	92					2.27111e-07	3.32311e-07	0.001368	1	0
MFSD1	64747	broad.mit.edu	37	3	158545093	158545093	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:158545093G>T	ENST00000415822.2	+	15	1649	c.1508G>T	c.(1507-1509)aGa>aTa	p.R503I	MFSD1_ENST00000392813.4_Missense_Mutation_p.R464I|MFSD1_ENST00000264266.8_Missense_Mutation_p.R454I	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	454					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TATTCTGCAAGACAAAGGGAA	0.269000													7	73					1.12685e-05	1.49636e-05	0.004482	1	0
SLC25A41	284427	broad.mit.edu	37	19	6429791	6429791	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:6429791G>A	ENST00000321510.6	-	4	636	c.568C>T	c.(568-570)Ctc>Ttc	p.L190F		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	190					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						CCAGCAAGGAGACGCTCCTGG	0.592000													3	27					0	0	0.009096	0	0
DLG5	9231	broad.mit.edu	37	10	79579116	79579116	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:79579116C>T	ENST00000372391.2	-	17	3639	c.3634G>A	c.(3634-3636)Gcg>Acg	p.A1212T	DLG5_ENST00000372388.2_Missense_Mutation_p.A872T|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1212					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)			TCTCGGGCCGCAGGTGGAGAG	0.632000													5	33					0	0	0.001984	0	0
MASP2	10747	broad.mit.edu	37	1	11103030	11103030	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:11103030G>T	ENST00000400897.3	-	6	806	c.791C>A	c.(790-792)cCc>cAc	p.P264H		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	264	CUB 2.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AATCCTGTGGGGCAATGTCTT	0.507000													16	66					0.00498961	0.00555157	0.004990	1	0
ZNF454	285676	broad.mit.edu	37	5	178392119	178392119	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:178392119C>A	ENST00000320129.3	+	5	1017	c.714C>A	c.(712-714)caC>caA	p.H238Q	ZNF454_ENST00000519564.1_Missense_Mutation_p.H238Q	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AAAGAATTCACACTGGCGAGA	0.413000													15	94					2.32078e-09	3.80903e-09	0.003163	1	0
MORN3	283385	broad.mit.edu	37	12	122107286	122107286	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:122107286C>T	ENST00000355329.3	-	1	274	c.104G>A	c.(103-105)gGc>gAc	p.G35D		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	35										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		ATAGTAGTCGCCATTCACAGC	0.622000											OREG0022205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	81					0	0	0.004990	0	0
USP20	10868	broad.mit.edu	37	9	132637912	132637912	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:132637912G>T	ENST00000315480.4	+	21	2450	c.2292G>T	c.(2290-2292)ctG>ctT	p.L764L	USP20_ENST00000358355.1_Silent_p.L764L|USP20_ENST00000372429.3_Silent_p.L764L			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	764	DUSP 1.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GGGAGCACCTGTACAACAGGT	0.612000													9	54					0.000442599	0.000525629	0.006214	1	0
BEST2	54831	broad.mit.edu	37	19	12864126	12864126	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:12864126T>G	ENST00000549706.1	+	3	529	c.205T>G	c.(205-207)Tgt>Ggt	p.C69G	BEST2_ENST00000553030.1_Missense_Mutation_p.C69G|BEST2_ENST00000042931.1_Missense_Mutation_p.C69G			Q8NFU1	BEST2_HUMAN	bestrophin 2	69					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						TGTGATTTATTGTGACCAGTA	0.547000													8	51					0	0	0.006214	0	0
ROBO3	64221	broad.mit.edu	37	11	124745224	124745224	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:124745224C>A	ENST00000397801.1	+	14	2483	c.2291C>A	c.(2290-2292)cCt>cAt	p.P764H	ROBO3_ENST00000538940.1_Missense_Mutation_p.P742H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	764					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AGGAGCATTCCTGAGGAGGGT	0.597000													15	107					6.72482e-11	1.17855e-10	0.003163	1	0
LARP6	55323	broad.mit.edu	37	15	71125075	71125075	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:71125075C>T	ENST00000299213.8	-	3	862	c.792G>A	c.(790-792)gaG>gaA	p.E264E		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	264					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CTTCCACCTCCTCGAACTCCA	0.552000													16	41					0	0	0.004990	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36276380	36276380	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:36276380G>T	ENST00000007510.4	+	19	2081	c.1937G>T	c.(1936-1938)gGg>gTg	p.G646V	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.G646V|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.G510V			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	646					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CAGGCCAGCGGGGCTGGTGAG	0.617000													18	55					4.75885e-15	9.51157e-15	0.004990	1	0
ORM1	5004	broad.mit.edu	37	9	117087141	117087141	+	Missense_Mutation	SNP	G	G	T	rs1126724		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:117087141G>T	ENST00000259396.8	+	4	478	c.400G>T	c.(400-402)Gtg>Ttg	p.V134L	ORM1_ENST00000477456.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	134					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	TGCTTTTGACGTGAACGATGA	0.557000													5	45					0.00116845	0.00134841	0.001168	1	0
PLTP	5360	broad.mit.edu	37	20	44539834	44539834	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:44539834C>G	ENST00000477313.1	-	2	751	c.157G>C	c.(157-159)Gac>Cac	p.D53H	PLTP_ENST00000372431.3_Missense_Mutation_p.D53H|PLTP_ENST00000354050.4_Missense_Mutation_p.D53H|PLTP_ENST00000420868.2_Missense_Mutation_p.D53H|PLTP_ENST00000542937.1_Missense_Mutation_p.D73H			P55058	PLTP_HUMAN	phospholipid transfer protein	53					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CCCCGCAGGTCCGGAATGGTG	0.627000													12	71					0	0	0.002450	0	0
JARID2	3720	broad.mit.edu	37	6	15410553	15410553	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:15410553G>C	ENST00000341776.2	+	3	524	c.280G>C	c.(280-282)Gat>Cat	p.D94H	JARID2_ENST00000541660.1_Missense_Mutation_p.D56H|JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	94					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CACTAGCAACGATGTTAGTTC	0.468000													12	99					0	0	0.001368	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496672	20496672	+	RNA	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:20496672G>C	ENST00000555186.1	+	0	725					NR_038836.1																						GGCTGTGTGTGCTGCTGTGTT	0.438000													3	55					0	0	0.004672	0	0
UTRN	7402	broad.mit.edu	37	6	144758881	144758881	+	Splice_Site	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:144758881C>T	ENST00000367545.3	+	10	1240	c.1241_splice	c.e10+1	p.R414_splice		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	414	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGACAGTCCCGGTGAGTGGA	0.468000													10	43					0	0	0.008291	0	0
NFIX	4784	broad.mit.edu	37	19	13201204	13201204	+	Splice_Site	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:13201204G>A	ENST00000358552.3	+	8	1368	c.1368_splice	c.e8+1	p.Q456_splice	NFIX_ENST00000585575.1_Splice_Site_p.Q490_splice|NFIX_ENST00000587260.1_3'UTR|NFIX_ENST00000360105.4_3'UTR|NFIX_ENST00000587760.1_3'UTR|NFIX_ENST00000588228.1_Splice_Site_p.Q451_splice|NFIX_ENST00000592199.1_Splice_Site_p.Q498_splice|NFIX_ENST00000397661.2_3'UTR			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	498					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			AGCAGTCTCAGGTAGGAGACC	0.612000													13	58					0	0	0.001855	0	0
CCDC116	164592	broad.mit.edu	37	22	21989526	21989526	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr22:21989526G>T	ENST00000292779.3	+	4	1335	c.1174G>T	c.(1174-1176)Gcc>Tcc	p.A392S		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	392										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CATGTCTAGTGCCCAGGTGGC	0.617000													4	18					0.000602214	0.000709753	0.000602	1	0
RSF1	51773	broad.mit.edu	37	11	77413235	77413235	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:77413235C>A	ENST00000308488.6	-	6	1341	c.1039G>T	c.(1039-1041)Gag>Tag	p.E347*	RSF1_ENST00000360355.2_Nonsense_Mutation_p.E316*|RSF1_ENST00000480887.1_Nonsense_Mutation_p.E95*			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	347	Glu-rich.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTTTCAGGCTCCTGTGCCACT	0.398000													79	165					6.85908e-49	1.59736e-48	0.003610	1	0
RGS7	6000	broad.mit.edu	37	1	240966221	240966221	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:240966221G>T	ENST00000366565.1	-	16	1723	c.1342C>A	c.(1342-1344)Cta>Ata	p.L448I	RGS7_ENST00000407727.1_Missense_Mutation_p.L448I|RGS7_ENST00000446183.2_Missense_Mutation_p.L364I|RGS7_ENST00000331110.7_Missense_Mutation_p.L422I|RGS7_ENST00000366563.1_Missense_Mutation_p.L448I|RGS7_ENST00000366564.1_Missense_Mutation_p.L448I|RGS7_ENST00000366562.4_Missense_Mutation_p.L448I|RGS7_ENST00000401882.1_Missense_Mutation_p.L395I|RGS7_ENST00000348120.2_Missense_Mutation_p.L395I	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	448	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTGCCTGTAGAAGCTCCTGA	0.368000													62	128					2.92363e-43	6.75791e-43	0.003610	1	0
SLC16A1	6566	broad.mit.edu	37	1	113471726	113471726	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:113471726T>A	ENST00000538576.1	-	2	1036	c.205A>T	c.(205-207)Atg>Ttg	p.M69L	SLC16A1_ENST00000433570.4_Missense_Mutation_p.M69L|SLC16A1_ENST00000369626.3_Missense_Mutation_p.M69L|SLC16A1_ENST00000478835.1_5'UTR	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	69					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CCACCATACATGACAGCCAAC	0.378000													8	34					0	0	0.006214	0	0
PI15	51050	broad.mit.edu	37	8	75756256	75756256	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:75756256C>A	ENST00000260113.2	+	3	493	c.314C>A	c.(313-315)gCg>gAg	p.A105E	RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.A105E	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	105						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GAGGCTTGGGCGGCTACTTGC	0.418000													29	124					1.13719e-10	1.98624e-10	0.008361	1	0
SMYD1	150572	broad.mit.edu	37	2	88396235	88396235	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:88396235T>A	ENST00000419482.2	+	6	905	c.820T>A	c.(820-822)Tgc>Agc	p.C274S	SMYD1_ENST00000444564.2_Missense_Mutation_p.C261S|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CTACTTTGACTGCACATGTGA	0.488000													12	71					0	0	0.001368	0	0
FUT10	84750	broad.mit.edu	37	8	33247177	33247177	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:33247177C>A	ENST00000327671.5	-	4	1147	c.516G>T	c.(514-516)acG>acT	p.T172T	FUT10_ENST00000518672.1_Silent_p.T144T|FUT10_ENST00000335589.3_Silent_p.T110T|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Silent_p.T144T	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	172					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GCCTGCTGAACGTGGCAGTGT	0.443000													23	113					3.8784e-16	7.96742e-16	0.001882	1	0
SMARCA4	6597	broad.mit.edu	37	19	11136097	11136097	+	Splice_Site	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:11136097G>T	ENST00000358026.2	+	22	3365		c.e22-1		SMARCA4_ENST00000589677.1_Splice_Site|SMARCA4_ENST00000450717.3_Splice_Site|SMARCA4_ENST00000344626.4_Splice_Site|SMARCA4_ENST00000590574.1_Splice_Site|SMARCA4_ENST00000429416.3_Splice_Site|SMARCA4_ENST00000413806.3_Splice_Site|SMARCA4_ENST00000444061.3_Splice_Site|SMARCA4_ENST00000541122.2_Splice_Site	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4						chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGCCTTCCAGGGCAAAGGCG	0.622000			"""F, N, Mis"""		NSCLC								6	20					0.00198382	0.00225084	0.001984	1	0
MYH6	4624	broad.mit.edu	37	14	23863103	23863103	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:23863103G>T	ENST00000405093.3	-	22	2770	c.2700C>A	c.(2698-2700)ctC>ctA	p.L900L	MYH6_ENST00000356287.3_Silent_p.L900L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	900					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CAGCATCATTGAGGTTGTCTT	0.502000													14	56					4.3838e-07	6.3367e-07	0.001855	1	0
SACS	26278	broad.mit.edu	37	13	23905303	23905303	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:23905303T>A	ENST00000382298.3	-	10	13300	c.12712A>T	c.(12712-12714)Agc>Tgc	p.S4238C	SACS_ENST00000382292.3_Missense_Mutation_p.S4238C|SACS_ENST00000402364.1_Missense_Mutation_p.S3488C	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4238					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCAAGAGAGCTAACTATTTTA	0.383000													6	51					0	0	0.001168	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461930	50461930	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:50461930G>T	ENST00000447370.2	-	7	1423	c.1333C>A	c.(1333-1335)Cag>Aag	p.Q445K	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.Q445K	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	445	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GAGACGTGCTGGGAGCCCAGA	0.662000													32	58					1.22384e-17	2.56856e-17	0.002836	1	0
NUP210P1	255330	broad.mit.edu	37	3	126382277	126382277	+	RNA	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:126382277C>A	ENST00000357061.3	+	0	244					NR_034158.1																						CAGGTCTCACCATGGGGAAGG	0.567000													18	34					1.78486e-19	3.82894e-19	0.007413	1	0
MYCBP2	23077	broad.mit.edu	37	13	77670575	77670575	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:77670575C>A	ENST00000407578.2	-	57	10092	c.9826G>T	c.(9826-9828)Ggg>Tgg	p.G3276W	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G3238W|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G3238W	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAAAAATGCCCAATGCTATTG	0.428000													10	100					4.68919e-08	7.14433e-08	0.008291	1	0
KIAA1217	56243	broad.mit.edu	37	10	24813540	24813540	+	Silent	SNP	C	C	T	rs147067816		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:24813540C>T	ENST00000376451.2	+	8	2054	c.1794C>T	c.(1792-1794)agC>agT	p.S598S	KIAA1217_ENST00000376462.1_Silent_p.S835S|KIAA1217_ENST00000376452.3_Silent_p.S880S|KIAA1217_ENST00000307544.6_Silent_p.S598S|KIAA1217_ENST00000458595.1_Silent_p.S880S|KIAA1217_ENST00000376454.3_Silent_p.S915S|KIAA1217_ENST00000396446.1_Silent_p.S598S|KIAA1217_ENST00000396445.1_Silent_p.S598S|KIAA1217_ENST00000430453.2_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	915					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACGTGGCCAGCTCCCCAGCCG	0.632000													6	21					0	0	0.001984	0	0
HOMEZ	57594	broad.mit.edu	37	14	23746355	23746355	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:23746355T>A	ENST00000357460.5	-	2	246	c.82A>T	c.(82-84)Aat>Tat	p.N28Y	HOMEZ_ENST00000561013.1_Missense_Mutation_p.N30Y|HOMEZ_ENST00000431326.2_Missense_Mutation_p.N30Y	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	28						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GCCTCTTTATTAGGAGGCATG	0.527000													5	16					0	0	0.000602	0	0
EPN2	22905	broad.mit.edu	37	17	19186638	19186638	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:19186638A>C	ENST00000314728.5	+	3	690	c.206A>C	c.(205-207)aAg>aCg	p.K69T	EPN2_ENST00000571254.1_Missense_Mutation_p.K69T|EPN2_ENST00000395620.2_Missense_Mutation_p.K69T|EPN2_ENST00000347697.2_Missense_Mutation_p.K69T|EPN2_ENST00000575595.1_Intron|EPN2_ENST00000395626.1_Missense_Mutation_p.K69T|EPN2_ENST00000395618.3_Intron	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	69	ENTH.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GACCATGGCAAGAACTGGCGG	0.577000													19	48					0	0	0.008871	0	0
TCFL5	10732	broad.mit.edu	37	20	61485498	61485498	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:61485498C>A	ENST00000335351.3	-	5	1342	c.1250G>T	c.(1249-1251)cGc>cTc	p.R417L	TCFL5_ENST00000217162.5_Missense_Mutation_p.R369L	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	417	Helix-loop-helix motif.				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					ACAGCAAATGCGGATTCTGCG	0.478000													7	31					0.00198382	0.00225084	0.001984	1	0
DPYD	1806	broad.mit.edu	37	1	98058880	98058880	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:98058880C>T	ENST00000370192.3	-	10	1122	c.1022G>A	c.(1021-1023)gGa>gAa	p.G341E		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	341					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GGCAGTGTCTCCAGCTCCAAG	0.478000													16	70					0	0	0.004990	0	0
PIGK	10026	broad.mit.edu	37	1	77676163	77676163	+	Silent	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:77676163T>C	ENST00000370812.3	-	2	128	c.105A>G	c.(103-105)gaA>gaG	p.E35E	PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000370813.5_Silent_p.E35E|PIGK_ENST00000445065.1_Intron|PIGK_ENST00000359130.1_Silent_p.E35E	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	35					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TAAAGAATTGTTCTGCTTGAT	0.338000													3	19					0	0	0.004672	0	0
USH2A	7399	broad.mit.edu	37	1	216380661	216380661	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:216380661G>T	ENST00000366943.2	-	16	3656	c.3270C>A	c.(3268-3270)ctC>ctA	p.L1090L	USH2A_ENST00000366942.3_Silent_p.L1090L|USH2A_ENST00000307340.3_Silent_p.L1090L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1090	Fibronectin type-III 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AACCATCCCTGAGTAAACTGT	0.408000										HNSCC(13;0.011)			45	85					5.20006e-24	1.15714e-23	0.002852	1	0
SLC26A9	115019	broad.mit.edu	37	1	205892743	205892743	+	Splice_Site	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:205892743T>A	ENST00000367135.3	-	14	1610		c.e14-2		SLC26A9_ENST00000367134.2_Splice_Site|SLC26A9_ENST00000340781.4_Splice_Site	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9							integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CCATTTCGACTGGATGAAGCA	0.512000													12	44					0	0	0.000978	0	0
CLDN16	10686	broad.mit.edu	37	3	190122628	190122628	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:190122628G>T	ENST00000264734.2	+	3	753	c.505G>T	c.(505-507)Ggt>Tgt	p.G169C	CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	169					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CCTGCTCCTTGGTCTTGACTG	0.498000													17	63					1.02788e-11	1.8668e-11	0.004990	1	0
TRAF3IP3	80342	broad.mit.edu	37	1	209933643	209933643	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:209933643C>G	ENST00000367024.1	+	3	775	c.259C>G	c.(259-261)Caa>Gaa	p.Q87E	TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.Q87E|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.Q87E|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.Q87E|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.Q87E			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	87						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GGCCAGGGAGCAAGGGCCCTC	0.602000													4	17					0	0	0.000602	0	0
ZNF280C	55609	broad.mit.edu	37	X	129354380	129354380	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:129354380C>A	ENST00000370978.4	-	13	1623	c.1470G>T	c.(1468-1470)gcG>gcT	p.A490A		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TACGATGCTGCGCCTTATGTT	0.378000													25	62					3.01185e-09	4.89149e-09	0.003954	1	0
SLC5A12	159963	broad.mit.edu	37	11	26725438	26725438	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:26725438C>A	ENST00000396005.3	-	5	891	c.582G>T	c.(580-582)gtG>gtT	p.V194V	SLC5A12_ENST00000280467.6_Silent_p.V194V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	194					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TTAAGAAGCCCACAATCATGA	0.403000													19	163					8.10497e-08	1.22403e-07	0.010504	1	0
HSDL1	83693	broad.mit.edu	37	16	84163918	84163918	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:84163918G>A	ENST00000219439.4	-	4	515	c.339C>T	c.(337-339)gaC>gaT	p.D113D	HSDL1_ENST00000434463.3_Intron	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	113						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						CTTTGTACGTGTCGGCTATGT	0.468000													19	115					0	0	0.008871	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382018	41382018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:41382018G>T	ENST00000377801.3	-	2	796	c.722C>A	c.(721-723)tCg>tAg	p.S241*	PLCXD3_ENST00000328457.3_Nonsense_Mutation_p.S241*			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	241					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.S241L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TATAAAAAACGATCCCTTCTT	0.507000													48	56					1.00776e-21	2.22021e-21	0.003610	1	0
SLC35G5	83650	broad.mit.edu	37	8	11189587	11189587	+	Silent	SNP	A	A	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:11189587A>C	ENST00000382435.4	+	1	1191	c.972A>C	c.(970-972)acA>acC	p.T324T		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	324	DUF6 2.					integral to membrane											CCATCATTACAGCCCGGAACC	0.527000													7	60					0	0	0.001984	0	0
CHD9	80205	broad.mit.edu	37	16	53289552	53289552	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:53289552G>T	ENST00000566029.1	+	19	4279	c.4070G>T	c.(4069-4071)cGa>cTa	p.R1357L	CHD9_ENST00000398510.3_Missense_Mutation_p.R1357L|CHD9_ENST00000447540.1_Missense_Mutation_p.R1357L|CHD9_ENST00000564845.1_Missense_Mutation_p.R1357L			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1357					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GATCTGCTTCGAAGAGGTGCT	0.338000													16	98					1.3612e-06	1.91755e-06	0.003163	1	0
OR52N2	390077	broad.mit.edu	37	11	5842352	5842352	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:5842352A>T	ENST00000317037.2	+	1	809	c.787A>T	c.(787-789)Act>Tct	p.T263S	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTTTTTTCACTCATCGTTT	0.443000													29	83					0	0	0.004289	0	0
COL25A1	84570	broad.mit.edu	37	4	109810384	109810384	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:109810384C>A	ENST00000399132.1	-	18	1498	c.968G>T	c.(967-969)gGg>gTg	p.G323V	COL25A1_ENST00000399126.1_Missense_Mutation_p.G323V|COL25A1_ENST00000399127.1_Missense_Mutation_p.G319V	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	323	Collagen-like 4.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TACCTTTTGCCCTGGACGACC	0.373000													51	119					3.19069e-20	6.94075e-20	0.003610	1	0
HRNR	388697	broad.mit.edu	37	1	152188105	152188105	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:152188105G>T	ENST00000368801.2	-	3	6075	c.6000C>A	c.(5998-6000)tcC>tcA	p.S2000S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2000					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTAGCCAGAGGACTGTCCTG	0.567000													82	349					7.34945e-47	1.70899e-46	0.003610	1	0
SLC39A6	25800	broad.mit.edu	37	18	33706778	33706778	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:33706778C>A	ENST00000269187.5	-	2	406	c.193G>T	c.(193-195)Gga>Tga	p.G65*	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Nonsense_Mutation_p.G65*	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	65						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TTATTTTCTCCATAGCGGTAG	0.368000													16	107					2.32078e-09	3.80903e-09	0.003163	1	0
NTRK3	4916	broad.mit.edu	37	15	88472445	88472445	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:88472445C>A	ENST00000394480.1	-	17	2431	c.2110G>T	c.(2110-2112)Gtc>Ttc	p.V704F	NTRK3_ENST00000542733.2_Missense_Mutation_p.V606F|NTRK3_ENST00000557856.1_Missense_Mutation_p.V696F|NTRK3_ENST00000558676.1_Missense_Mutation_p.V696F|NTRK3_ENST00000357724.2_Missense_Mutation_p.V696F|NTRK3_ENST00000355254.2_Missense_Mutation_p.V704F|NTRK3_ENST00000360948.2_Missense_Mutation_p.V704F	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	704	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTGCTGTAGACATCTCTGGAC	0.522000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			18	79					9.95505e-16	2.02363e-15	0.002299	1	0
RIMS2	9699	broad.mit.edu	37	8	104897842	104897842	+	Silent	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:104897842T>C	ENST00000507740.1	+	2	675	c.439T>C	c.(439-441)Ttg>Ctg	p.L147L	RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Silent_p.L147L|RIMS2_ENST00000436393.2_Silent_p.L117L|RIMS2_ENST00000406091.3_Silent_p.L339L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	370	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGATCCGAATTTGGCCCGTTA	0.463000										HNSCC(12;0.0054)			7	25					0	0	0.001984	0	0
TTK	7272	broad.mit.edu	37	6	80750370	80750370	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:80750370G>T	ENST00000509894.1	+	21	3266	c.2437G>T	c.(2437-2439)Ggc>Tgc	p.G813C	TTK_ENST00000369798.2_Missense_Mutation_p.G814C|TTK_ENST00000230510.3_Missense_Mutation_p.G813C			P33981	TTK_HUMAN	TTK protein kinase	814					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		ATATGTTCTGGGCCAACTTGT	0.303000													34	68					6.03168e-27	1.36174e-26	0.004878	1	0
TUBBP5	643224	broad.mit.edu	37	9	141070139	141070139	+	RNA	SNP	C	C	T	rs143443709	by1000genomes	TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:141070139C>T	ENST00000503395.1	+	0	1219																		p.L85F(2)									CGGGCAGGTCCTCAGGCCAGA	0.667000													4	55					0	0	0.004482	0	0
GRHL3	57822	broad.mit.edu	37	1	24664233	24664233	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:24664233C>T	ENST00000361548.4	+	6	1024	c.794C>T	c.(793-795)aCc>aTc	p.T265I	GRHL3_ENST00000356046.2_Missense_Mutation_p.T219I|GRHL3_ENST00000350501.5_Missense_Mutation_p.T265I|GRHL3_ENST00000236255.4_Missense_Mutation_p.T270I|GRHL3_ENST00000342072.4_Missense_Mutation_p.T172I	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	265					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		ACCCTGCGGACCCCAGCAGGT	0.582000													9	43					0	0	0.008291	0	0
NCKAP5	344148	broad.mit.edu	37	2	133721382	133721382	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:133721382C>G	ENST00000409261.1	-	8	863	c.490G>C	c.(490-492)Gtt>Ctt	p.V164L	NCKAP5_ENST00000317721.6_Missense_Mutation_p.V164L|NCKAP5_ENST00000409213.1_Missense_Mutation_p.V164L|NCKAP5_ENST00000405974.3_Missense_Mutation_p.V164L	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	164							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCCTCATCAACCACCATGTGA	0.388000													28	128					0	0	0.006320	0	0
VPS13D	55187	broad.mit.edu	37	1	12438558	12438558	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:12438558A>T	ENST00000358136.3	+	56	11124	c.10994A>T	c.(10993-10995)cAc>cTc	p.H3665L	VPS13D_ENST00000356315.4_Missense_Mutation_p.H3640L|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3664					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCAGTTCCTCACAATCCCAAT	0.522000													12	51					0	0	0.000978	0	0
CDRT1	374286	broad.mit.edu	37	17	15498129	15498129	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:15498129C>A	ENST00000455584.2	-	16	2753	c.2710G>T	c.(2710-2712)Ggc>Tgc	p.G904C	CDRT1_ENST00000583965.1_Intron|CDRT1_ENST00000354433.3_Missense_Mutation_p.G94C|CDRT1_ENST00000395906.3_Missense_Mutation_p.G594C																							ATGACCAGGCCATCAGTGCTT	0.557000													17	32					6.49762e-13	1.21713e-12	0.006122	1	0
EVX2	344191	broad.mit.edu	37	2	176946954	176946954	+	Silent	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:176946954G>C	ENST00000308618.4	-	2	787	c.651C>G	c.(649-651)cgC>cgG	p.R217R		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	217						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GCTCGCACCGGCGGGGCCGCG	0.657000													3	16					0	0	0.004672	0	0
USP5	8078	broad.mit.edu	37	12	6965877	6965877	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:6965877G>T	ENST00000229268.8	+	6	643	c.591G>T	c.(589-591)tgG>tgT	p.W197C	USP5_ENST00000389231.5_Missense_Mutation_p.W197C	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	197					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TTAGTGGCTGGAAGTGCTCCA	0.572000													9	49					0.00829132	0.00917249	0.008291	1	0
ALPP	250	broad.mit.edu	37	2	233243998	233243998	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:233243998C>G	ENST00000392027.2	+	3	551	c.282C>G	c.(280-282)gaC>gaG	p.D94E		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	94						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TGGCCATGGACCGCTTCCCAT	0.562000													6	24					0	0	0.001168	0	0
TRIM42	287015	broad.mit.edu	37	3	140407035	140407035	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:140407035T>A	ENST00000286349.3	+	3	1702	c.1511T>A	c.(1510-1512)cTg>cAg	p.L504Q		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	504						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GGGGACTCCCTGCCCTCCCCC	0.562000													8	35					0	0	0.004482	0	0
SLC22A10	387775	broad.mit.edu	37	11	63071686	63071686	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:63071686C>A	ENST00000544661.1	+	9	1216	c.788C>A	c.(787-789)tCa>tAa	p.S263*	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000332793.6_Silent_p.L464L			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	0						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCACTGTTCTCAGGTATAAGA	0.433000													16	117					3.32936e-07	4.83505e-07	0.006122	1	0
KIAA1614	57710	broad.mit.edu	37	1	180905224	180905224	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:180905224C>A	ENST00000367588.4	+	5	2234	c.2179C>A	c.(2179-2181)Cca>Aca	p.P727T	KIAA1614_ENST00000367587.1_Missense_Mutation_p.P348T	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	727										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GCAGCCTGGACCAGGGCTGGG	0.607000													6	50					3.59834e-05	4.61623e-05	0.001168	1	0
FAM63B	54629	broad.mit.edu	37	15	59139570	59139570	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:59139570C>T	ENST00000559228.1	+	7	1525	c.1443C>T	c.(1441-1443)aaC>aaT	p.N481N	FAM63B_ENST00000450403.2_Silent_p.N481N			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	481										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GCCTACACAACGTAGATGGTG	0.388000													28	114					0	0	0.005443	0	0
ZMAT3	64393	broad.mit.edu	37	3	178748669	178748669	+	Splice_Site	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:178748669T>A	ENST00000311417.2	-	3	1130	c.390_splice	c.e3+1	p.Q130_splice	ZMAT3_ENST00000432729.1_Splice_Site_p.Q130_splice	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	130					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			ATGTCTCACCTGCGGAGGGAC	0.478000													21	112					0	0	0.003330	0	0
PTPRT	11122	broad.mit.edu	37	20	40911127	40911127	+	Splice_Site	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:40911127A>T	ENST00000373198.3	-	13	2412		c.e13+1		PTPRT_ENST00000373190.1_Splice_Site|PTPRT_ENST00000373184.1_Splice_Site|PTPRT_ENST00000373201.1_Splice_Site|PTPRT_ENST00000356100.2_Splice_Site|PTPRT_ENST00000373187.1_Splice_Site|PTPRT_ENST00000373193.3_Splice_Site	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T						homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATGCCAACATACCTTTTGTAG	0.358000													17	79					0	0	0.006122	0	0
JPH3	57338	broad.mit.edu	37	16	87678057	87678057	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:87678057C>A	ENST00000284262.2	+	2	818	c.576C>A	c.(574-576)tcC>tcA	p.S192S		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	192					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CGGCCGTGTCCCGCGGGGGCT	0.687000													16	50					5.3912e-06	7.29647e-06	0.006122	1	0
POTEA	340441	broad.mit.edu	37	8	43147797	43147797	+	RNA	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:43147797C>T	ENST00000522175.2	+	0	172							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.P57R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTCACGGAGCCAAGGTATCAC	0.612000													8	53					0	0	0.004482	0	0
MSH4	4438	broad.mit.edu	37	1	76313961	76313961	+	Splice_Site	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:76313961G>T	ENST00000263187.3	+	8	1334	c.1230_splice	c.e8+1	p.T410_splice		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	410					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AGCAAGACACGGTATGTTTTT	0.274000								Mismatch excision repair (MMR)					14	99					1.49906e-05	1.96538e-05	0.002450	1	0
PSKH2	85481	broad.mit.edu	37	8	87076731	87076731	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:87076731G>T	ENST00000276616.2	-	2	389	c.315C>A	c.(313-315)tgC>tgA	p.C105*	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	105	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GCTCAGACACGCACGCTTCTC	0.498000													13	69					3.27435e-08	5.02824e-08	0.002450	1	0
DBP	1628	broad.mit.edu	37	19	49136878	49136878	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:49136878G>A	ENST00000222122.5	-	3	1028	c.585C>T	c.(583-585)gaC>gaT	p.D195D	DBP_ENST00000601104.1_Silent_p.D195D|DBP_ENST00000599385.1_5'UTR|DBP_ENST00000593500.1_5'UTR	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	195	Pro-rich (proline/acidic region (PAR)).				regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CGGTGTCTGGGTCCACAGGGC	0.547000													27	67					0	0	0.006320	0	0
OLFM4	10562	broad.mit.edu	37	13	53603173	53603173	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:53603173C>A	ENST00000219022.2	+	1	280	c.202C>A	c.(202-204)Cag>Aag	p.Q68K		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	68	Ser-rich.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TTCTGTGTCCCAGGTGAGGAG	0.557000													6	54					0.00198382	0.00225084	0.001984	1	0
VCAN	1462	broad.mit.edu	37	5	82834807	82834807	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:82834807C>A	ENST00000265077.3	+	8	6550	c.5985C>A	c.(5983-5985)agC>agA	p.S1995R	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.S1008R|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1995	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCATGGTCAGCACTTCAGCCT	0.517000													9	39					2.17888e-05	2.83272e-05	0.006214	1	0
GLYATL1	92292	broad.mit.edu	37	11	58711088	58711088	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:58711088C>A	ENST00000300079.5	+	2	147	c.97C>A	c.(97-99)Ctg>Atg	p.L33M	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_5'UTR	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	0						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	cggaaggtacctgcaggatcc	0.463000													5	40					1.06961e-07	1.59363e-07	0.003080	1	0
ASXL3	80816	broad.mit.edu	37	18	31320244	31320244	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:31320244C>A	ENST00000269197.5	+	11	2876	c.2876C>A	c.(2875-2877)tCa>tAa	p.S959*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	959					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGTAGAGATTCAGAGATATCA	0.423000													3	15					0.004672	0.00520192	0.004672	1	0
KRT72	140807	broad.mit.edu	37	12	52981414	52981414	+	Splice_Site	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:52981414C>A	ENST00000293745.2	-	7	1396		c.e7+1		KRT72_ENST00000354310.4_Splice_Site|KRT72_ENST00000398066.3_Splice_Site|KRT72_ENST00000537672.2_Splice_Site	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72							keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CGGCCCCTCACCTGCACTCCT	0.567000													9	49					0.000673444	0.000787716	0.008291	1	0
PCDHB8	56128	broad.mit.edu	37	5	140559894	140559894	+	Nonsense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:140559894C>G	ENST00000239444.2	+	1	2524	c.2279C>G	c.(2278-2280)tCa>tGa	p.S760*		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		760					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGAGGCTCAGGGACGAAT	0.527000													14	75					0	0	0.002450	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34035767	34035767	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:34035767G>T	ENST00000382065.3	-	2	1106	c.400C>A	c.(400-402)Cct>Act	p.P134T	C1QTNF3_ENST00000231338.7_Missense_Mutation_p.P61T	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	61	C1q.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					ATGCCAGGAGGGCCCGGTGGC	0.517000													29	43					1.74807e-11	3.14896e-11	0.002096	1	0
PHF20L1	51105	broad.mit.edu	37	8	133827105	133827105	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:133827105A>C	ENST00000395386.2	+	10	1453	c.1154A>C	c.(1153-1155)cAg>cCg	p.Q385P	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395382.3_Missense_Mutation_p.Q255P|PHF20L1_ENST00000315808.10_Missense_Mutation_p.Q385P|PHF20L1_ENST00000395390.2_Missense_Mutation_p.Q360P|PHF20L1_ENST00000395383.1_Missense_Mutation_p.Q389P	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	385							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CTTGTATCTCAGCTTTCTTCT	0.323000													21	110					0	0	0.002299	0	0
FLG	2312	broad.mit.edu	37	1	152284850	152284850	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:152284850G>T	ENST00000368799.1	-	3	2547	c.2512C>A	c.(2512-2514)Cag>Aag	p.Q838K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	838	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGTCCTGACCATCTTGG	0.587000									Ichthyosis				138	276					1.64266e-44	3.80264e-44	0.003610	1	0
ADAMTS4	9507	broad.mit.edu	37	1	161163070	161163070	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:161163070G>A	ENST00000367996.4	-	7	2272	c.1844C>T	c.(1843-1845)cCc>cTc	p.P615L		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	615	Cys-rich.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTGGTCCTGGGGGGCCACGCC	0.637000													14	33					0	0	0.002450	0	0
FAM181A	90050	broad.mit.edu	37	14	94394793	94394793	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:94394793G>T	ENST00000267594.5	+	3	655	c.348G>T	c.(346-348)cgG>cgT	p.R116R	FAM181A_ENST00000557719.1_Silent_p.R54R|FAM181A_ENST00000557000.2_Silent_p.R54R|FAM181A_ENST00000556222.1_Silent_p.R54R	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	116										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						AGTATTCCCGGCTCCCGCGGG	0.637000													7	17					0.00198382	0.00225084	0.001984	1	0
LAMA3	3909	broad.mit.edu	37	18	21407284	21407284	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:21407284A>T	ENST00000313654.9	+	23	2917	c.2676A>T	c.(2674-2676)ttA>ttT	p.L892F	LAMA3_ENST00000399516.3_Missense_Mutation_p.L892F	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	892	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAGTTGCTTACTCTACCAGC	0.478000													22	142					0	0	0.002299	0	0
AGMO	392636	broad.mit.edu	37	7	15601419	15601419	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:15601419T>A	ENST00000342526.3	-	1	221	c.52A>T	c.(52-54)Atg>Ttg	p.M18L		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	18					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TAAAACAACATGCGAAATCCC	0.418000													47	83					0	0	0.003214	0	0
SALL1	6299	broad.mit.edu	37	16	51173618	51173618	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:51173618C>A	ENST00000440970.1	-	2	2655	c.2224G>T	c.(2224-2226)Gat>Tat	p.D742Y	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.D839Y	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	839					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTAGGTGTATCAGGGATGCTG	0.473000													27	138					1.04121e-07	1.56485e-07	0.005443	1	0
OR9G1	390174	broad.mit.edu	37	11	56468310	56468310	+	Silent	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:56468310T>C	ENST00000312153.1	+	1	447	c.447T>C	c.(445-447)tgT>tgC	p.C149C		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TCTCATATTGTGGTGGCTTTA	0.453000													11	148					0	0	0.001368	0	0
HPN	3249	broad.mit.edu	37	19	35551690	35551690	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:35551690G>T	ENST00000262626.2	+	9	1605	c.780G>T	c.(778-780)ctG>ctT	p.L260L	HPN_ENST00000597419.1_Silent_p.L102L|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Silent_p.L260L	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	260	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	ATATTGCCCTGGTCCACCTCT	0.642000													15	40					5.03518e-11	8.91503e-11	0.007413	1	0
ZP4	57829	broad.mit.edu	37	1	238050103	238050103	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:238050103G>T	ENST00000366570.4	-	6	965	c.807C>A	c.(805-807)agC>agA	p.S269R	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	269	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CAGAGCCACGGCTCCCATTTT	0.483000													6	112					0.000274275	0.000328495	0.004482	1	0
WIPF1	7456	broad.mit.edu	37	2	175436887	175436887	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:175436887C>A	ENST00000392547.2	-	5	745	c.646G>T	c.(646-648)Ggg>Tgg	p.G216W	AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.G216W|WIPF1_ENST00000272746.5_Missense_Mutation_p.G216W|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.G216W|WIPF1_ENST00000392546.2_Missense_Mutation_p.G216W|WIPF1_ENST00000359761.3_Missense_Mutation_p.G216W	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	216					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGAGTGGGCCCGGGGCTGGGC	0.642000													24	59					1.66031e-10	2.86444e-10	0.003954	1	0
CAV3	859	broad.mit.edu	37	3	8775586	8775586	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:8775586T>A	ENST00000343849.2	+	1	101	c.24T>A	c.(22-24)gaT>gaA	p.D8E	SSUH2_ENST00000478513.1_Intron|CAV3_ENST00000397368.2_Missense_Mutation_p.D8E|CAV3_ENST00000472766.1_3'UTR	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	8					cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						AGCACACAGATCTCGAGGCCC	0.557000													4	10					0	0	0.001168	0	0
EPHA3	2042	broad.mit.edu	37	3	89498522	89498522	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:89498522G>T	ENST00000336596.2	+	14	2719	c.2494G>T	c.(2494-2496)Gat>Tat	p.D832Y	EPHA3_ENST00000494014.1_Missense_Mutation_p.D832Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	832	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding	p.D832N(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTCCAATCAGGATGTAAGTAT	0.443000										TSP Lung(6;0.00050)			68	117					9.07738e-34	2.07349e-33	0.003610	1	0
OR10H4	126541	broad.mit.edu	37	19	16060245	16060245	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:16060245C>A	ENST00000322107.1	+	1	428	c.428C>A	c.(427-429)gCc>gAc	p.A143D		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CGTGACTGTGCCCATCTTGTG	0.537000													23	89					1.9806e-07	2.92006e-07	0.002299	1	0
GRIK4	2900	broad.mit.edu	37	11	120831643	120831643	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:120831643T>A	ENST00000527524.2	+	17	2187	c.1900T>A	c.(1900-1902)Tca>Aca	p.S634T	GRIK4_ENST00000438375.2_Missense_Mutation_p.S634T			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	634					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GATCATCATCTCATCCTACAC	0.572000													10	40					0	0	0.006214	0	0
CDH4	1002	broad.mit.edu	37	20	60448883	60448883	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:60448883C>A	ENST00000360469.5	+	7	1065	c.977C>A	c.(976-978)cCg>cAg	p.P326Q	CDH4_ENST00000543233.1_Missense_Mutation_p.P252Q	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	326	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCACAGAGCCCGTCCCAGAAT	0.632000													15	66					4.7546e-09	7.62605e-09	0.004007	1	0
EFS	10278	broad.mit.edu	37	14	23829981	23829981	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:23829981C>A	ENST00000216733.3	-	2	687	c.80G>T	c.(79-81)cGc>cTc	p.R27L	EFS_ENST00000351354.3_Intron|EFS_ENST00000429593.2_Intron	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	27	SH3.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		ATCCCCTCGGCGGAAGGACAG	0.667000													5	27					0.000157383	0.000191602	0.003080	1	0
ENC1	8507	broad.mit.edu	37	5	73931223	73931223	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:73931223G>C	ENST00000302351.4	-	2	2218	c.1088C>G	c.(1087-1089)aCc>aGc	p.T363S	ENC1_ENST00000510316.1_Missense_Mutation_p.T290S|ENC1_ENST00000537006.1_Missense_Mutation_p.T363S	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	363					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CTCGTGCAGGGTATCATAAAC	0.547000													18	63					0	0	0.006122	0	0
SSPO	23145	broad.mit.edu	37	7	149521633	149521633	+	RNA	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:149521633C>A	ENST00000378016.2	+	0	13712							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGCTGCTGGCTTCAGAGCAG	0.711000													8	32					0.00448238	0.00501238	0.004482	1	0
GOLGB1	2804	broad.mit.edu	37	3	121410889	121410889	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:121410889T>C	ENST00000393667.3	-	14	7432	c.7322A>G	c.(7321-7323)gAt>gGt	p.D2441G	GOLGB1_ENST00000340645.5_Missense_Mutation_p.D2436G	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2436					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATTGGTTTTATCAACAGCCTT	0.383000													34	128					0	0	0.002096	0	0
USP32	84669	broad.mit.edu	37	17	58258864	58258864	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:58258864C>A	ENST00000300896.4	-	32	4563	c.4369G>T	c.(4369-4371)Gag>Tag	p.E1457*	USP32_ENST00000592339.1_Nonsense_Mutation_p.E1127*	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1457					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GTGACCAACTCTGGTTGGCTG	0.522000													45	46					9.58827e-17	1.99082e-16	0.003610	1	0
RBFOX1	54715	broad.mit.edu	37	16	7760707	7760707	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:7760707G>T	ENST00000340209.4	+	13	1466	c.1169G>T	c.(1168-1170)aGt>aTt	p.S390I	RBFOX1_ENST00000550418.1_Missense_Mutation_p.S385I|RBFOX1_ENST00000552089.1_3'UTR|RBFOX1_ENST00000355637.4_3'UTR|RBFOX1_ENST00000547338.1_Missense_Mutation_p.S385I|RBFOX1_ENST00000311745.5_Missense_Mutation_p.S406I|RBFOX1_ENST00000436368.2_Missense_Mutation_p.S380I|RBFOX1_ENST00000547372.1_3'UTR|RBFOX1_ENST00000553186.1_Missense_Mutation_p.S358I			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	385					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTGCAGGCTAGTATATACCGA	0.443000													35	137					6.00712e-18	1.2659e-17	0.002445	1	0
ABT1	29777	broad.mit.edu	37	6	26597220	26597220	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:26597220G>T	ENST00000274849.1	+	1	41	c.10G>T	c.(10-12)Gag>Tag	p.E4*		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	4					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						CATGGAGGCAGAGGAATCGGA	0.622000													4	6					0.00909568	0.00995582	0.009096	1	0
OR6C76	390326	broad.mit.edu	37	12	55820221	55820221	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:55820221A>T	ENST00000328314.3	+	1	184	c.184A>T	c.(184-186)Agg>Tgg	p.R62W		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTTCTTCCTCAGGAATTTCTC	0.398000													48	165					0	0	0.003610	0	0
CKAP2	26586	broad.mit.edu	37	13	53042424	53042424	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:53042424G>T	ENST00000378037.5	+	7	1581	c.1491G>T	c.(1489-1491)gaG>gaT	p.E497D	CKAP2_ENST00000490903.1_Missense_Mutation_p.E448D|CKAP2_ENST00000258607.5_Missense_Mutation_p.E496D	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	497					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CTATTGAAGAGATGCGACACA	0.299000													4	33					0.00909568	0.00995582	0.009096	1	0
ACSBG1	23205	broad.mit.edu	37	15	78473191	78473191	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:78473191G>T	ENST00000258873.4	-	9	1364	c.1159C>A	c.(1159-1161)Cag>Aag	p.Q387K	ACSBG1_ENST00000541759.1_Missense_Mutation_p.Q145K|ACSBG1_ENST00000560817.1_Missense_Mutation_p.Q145K	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	387					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GCCACCTCCTGGATGCGCTCC	0.632000													10	44					0.00829132	0.00917249	0.008291	1	0
BCMO1	53630	broad.mit.edu	37	16	81279206	81279206	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:81279206A>T	ENST00000258168.2	+	2	652	c.191A>T	c.(190-192)gAc>gTc	p.D64V	BCMO1_ENST00000425577.2_Missense_Mutation_p.R38S|BCMO1_ENST00000564552.1_Missense_Mutation_p.D64V	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	64					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ACCATCAGAGACGGTGAGAAC	0.537000													9	56					0	0	0.004482	0	0
BRINP3	339479	broad.mit.edu	37	1	190129908	190129908	+	Silent	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:190129908C>G	ENST00000367462.3	-	7	1305	c.1074G>C	c.(1072-1074)ctG>ctC	p.L358L	FAM5C_ENST00000534846.1_Silent_p.L256L|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		358						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGCTGTTCTCCAGTTGTTCAT	0.383000													63	134					0	0	0.003610	0	0
BTN2A1	11120	broad.mit.edu	37	6	26463516	26463516	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:26463516G>T	ENST00000429381.1	+	4	687	c.475G>T	c.(475-477)Ggg>Tgg	p.G159W	BTN2A1_ENST00000469185.1_Missense_Mutation_p.G159W|BTN2A1_ENST00000541522.1_Missense_Mutation_p.G98W|BTN2A1_ENST00000312541.5_Missense_Mutation_p.G159W			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	159					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CCATGAAGACGGGGGCATCCG	0.562000													11	53					5.50884e-06	7.41685e-06	0.001368	1	0
ZNF99	7652	broad.mit.edu	37	19	22939861	22939861	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:22939861G>C	ENST00000397104.3	-	6	2469	c.2470C>G	c.(2470-2472)Cat>Gat	p.H824D						zinc finger protein 99									p.H824N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCCCTAGTATGAATTAGCTTA	0.378000													14	61					0	0	0.003163	0	0
RGS22	26166	broad.mit.edu	37	8	101014541	101014541	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:101014541G>T	ENST00000360863.6	-	18	2873	c.2679C>A	c.(2677-2679)taC>taA	p.Y893*	RGS22_ENST00000523437.1_Nonsense_Mutation_p.Y881*|RGS22_ENST00000523287.1_Nonsense_Mutation_p.Y712*	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	893	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTCGATCTCTGTAAGTTATTC	0.333000													17	64					7.07596e-05	8.90813e-05	0.006122	1	0
AQP6	363	broad.mit.edu	37	12	50367274	50367274	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:50367274C>A	ENST00000315520.5	+	1	655	c.318C>A	c.(316-318)gcC>gcA	p.A106A	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	106					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						ATGTGGCTGCCCAGCTGGTGG	0.677000													8	27					1.06961e-07	1.59363e-07	0.003080	1	0
TAS2R60	338398	broad.mit.edu	37	7	143141373	143141373	+	Silent	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:143141373T>C	ENST00000332690.1	+	1	828	c.828T>C	c.(826-828)ttT>ttC	p.F276F	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	276					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CTCTGGACTTTAAATTCTGGG	0.483000													74	232					0	0	0.003610	0	0
LRRK2	120892	broad.mit.edu	37	12	40671810	40671810	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:40671810G>A	ENST00000298910.7	+	17	2120	c.2062G>A	c.(2062-2064)Gat>Aat	p.D688N	LRRK2_ENST00000343742.2_Missense_Mutation_p.D688N	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	688					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGAACAAAAGGATCAACAGGT	0.338000													10	70					0	0	0.006214	0	0
TP53	7157	broad.mit.edu	37	17	7577153	7577153	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:7577153C>A	ENST00000420246.2	-	8	917	c.785G>T	c.(784-786)gGt>gTt	p.G262V	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.G262V|TP53_ENST00000455263.2_Missense_Mutation_p.G262V|TP53_ENST00000359597.4_Missense_Mutation_p.G262V|TP53_ENST00000445888.2_Missense_Mutation_p.G262V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	262	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|GN -> PD (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G262V(19)|p.0?(8)|p.G262D(4)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262fs*83(2)|p.G262_S269delGNLLGRNS(2)|p.G262del(2)|p.G262H(1)|p.E258fs*71(1)|p.S261_L264>R(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGTAGATTACCACTACTCAG	0.517000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	5					0.00909568	0.00995582	0.009096	1	0
RBP2	5948	broad.mit.edu	37	3	139173634	139173634	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:139173634C>A	ENST00000232217.2	-	3	347	c.291G>T	c.(289-291)gtG>gtT	p.V97V	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	97					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CCCCCTTTTGCACACACACAA	0.507000													19	63					1.28384e-07	1.89641e-07	0.001882	1	0
NCKAP1L	3071	broad.mit.edu	37	12	54920357	54920357	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:54920357C>G	ENST00000293373.6	+	21	2281	c.2202C>G	c.(2200-2202)atC>atG	p.I734M	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.I684M	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	734					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCCAGGAGATCGTACGGCCTT	0.448000													11	49					0	0	0.001855	0	0
IFNA7	3444	broad.mit.edu	37	9	21201786	21201786	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:21201786C>A	ENST00000239347.3	-	1	418	c.379G>T	c.(379-381)Gtt>Ttt	p.V127F		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	127					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCCACCCCAACCTCCTGTATC	0.448000													43	132					7.88023e-25	1.76367e-24	0.003610	1	0
ZNF578	147660	broad.mit.edu	37	19	53005157	53005157	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:53005157C>G	ENST00000421239.2	+	4	303	c.59C>G	c.(58-60)cCt>cGt	p.P20R		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATGGCTCTTCCTCAGGTGAAG	0.383000													49	88					0	0	0.003610	0	0
MCCC1	56922	broad.mit.edu	37	3	182810278	182810278	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:182810278C>A	ENST00000265594.4	-	3	338	c.192G>T	c.(190-192)gtG>gtT	p.V64V	MCCC1_ENST00000492597.1_Intron|MCCC1_ENST00000539926.1_Intron	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	64	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CTGTGCGCATCACCCTGCAGG	0.418000													17	68					1.5739e-10	2.73975e-10	0.004007	1	0
EVI2B	2124	broad.mit.edu	37	17	29631780	29631780	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:29631780A>G	ENST00000330927.4	-	2	1002	c.848T>C	c.(847-849)tTa>tCa	p.L283S	NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.L298S|EVI2B_ENST00000577894.1_Missense_Mutation_p.L283S	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	283						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		GTCATCTGCTAAAAGTGTGCT	0.338000													59	118					0	0	0.003610	0	0
PASK	23178	broad.mit.edu	37	2	242076568	242076568	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:242076568C>T	ENST00000403638.3	-	7	1079	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	PASK_ENST00000234040.4_Missense_Mutation_p.A330T|PASK_ENST00000539818.1_Missense_Mutation_p.A114T|PASK_ENST00000358649.4_Missense_Mutation_p.A330T|PASK_ENST00000544142.1_Missense_Mutation_p.A144T|PASK_ENST00000405260.1_Missense_Mutation_p.A330T	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	330					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CTCACAGGGGCCGCCTCACCG	0.617000													8	38					0	0	0.004482	0	0
RNGTT	8732	broad.mit.edu	37	6	89614445	89614445	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:89614445G>A	ENST00000369485.4	-	6	859	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	RNGTT_ENST00000265607.6_Missense_Mutation_p.R225W|RNGTT_ENST00000369475.3_Missense_Mutation_p.R225W|RNGTT_ENST00000538899.1_Missense_Mutation_p.R165W	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	225					interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		AGTTTTAACCGTTCTTTTCTC	0.338000													14	73					0	0	0.002450	0	0
ATG4D	84971	broad.mit.edu	37	19	10657614	10657614	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:10657614G>C	ENST00000309469.4	+	4	766	c.593G>C	c.(592-594)cGc>cCc	p.R198P	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	198					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ATGCCCCCACGCTGGGCCCAG	0.721000													5	11					0	0	0.001168	0	0
PABPC5	140886	broad.mit.edu	37	X	90691002	90691002	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:90691002C>A	ENST00000312600.3	+	2	640	c.426C>A	c.(424-426)aaC>aaA	p.N142K	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	142	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GCGATGACAACGGCTCTAAGG	0.478000													28	38					2.61193e-14	5.07657e-14	0.009535	1	0
IER5	51278	broad.mit.edu	37	1	181058811	181058811	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:181058811C>T	ENST00000367577.4	+	1	1174	c.773C>T	c.(772-774)gCg>gTg	p.A258V		NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	258										lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						GACGACGACGCGGAGGAGATG	0.682000													9	27					0	0	0.008291	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151334956	151334956	+	Splice_Site	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:151334956G>T	ENST00000367321.3	+	22	2581	c.2307_splice	c.e22+1	p.E769_splice		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	769	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ATACAGAGGAGGTAAGAGGAG	0.398000													7	39					0.000157383	0.000191602	0.003080	1	0
COL8A1	1295	broad.mit.edu	37	3	99514928	99514928	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:99514928C>T	ENST00000261037.3	+	5	2563	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V	COL8A1_ENST00000273342.4_Missense_Mutation_p.A728V	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	728	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGACTGTATGCCGGGCAGTAT	0.473000													5	42					0	0	0.001168	0	0
VPS13D	55187	broad.mit.edu	37	1	12317054	12317054	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:12317054G>A	ENST00000358136.3	+	9	981	c.851G>A	c.(850-852)cGg>cAg	p.R284Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.R284Q	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	284					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTGCAATACCGGCAAATCATG	0.408000													6	35					0	0	0.001984	0	0
HTT	3064	broad.mit.edu	37	4	3240633	3240633	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:3240633C>T	ENST00000355072.5	+	66	9288	c.9143C>T	c.(9142-9144)cCg>cTg	p.P3048L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	3048					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAGAGGGCCCCGGTCGCCATG	0.647000													6	13					0	0	0.001168	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711609	155711609	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:155711609G>T	ENST00000295101.2	+	3	1767	c.1290G>T	c.(1288-1290)ttG>ttT	p.L430F		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	430					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.L430F(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CCTACAGCTTGGGAGACTTGC	0.403000													18	93					5.03518e-11	8.91503e-11	0.007413	1	0
TENM3	55714	broad.mit.edu	37	4	183714173	183714173	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:183714173G>C	ENST00000511685.1	+	26	6471	c.6348G>C	c.(6346-6348)gaG>gaC	p.E2116D	TENM3_ENST00000406950.2_Missense_Mutation_p.E2116D					teneurin transmembrane protein 3																		CCAAGAGAGAGATTAAAATAG	0.403000													5	26					0	0	0.000602	0	0
DCDC1	341019	broad.mit.edu	37	11	31128346	31128346	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:31128346G>T	ENST00000597505.1	-	11	1748	c.1749C>A	c.(1747-1749)taC>taA	p.Y583*	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	243					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCTCCTACCTGTATGCTCTAC	0.408000											OREG0020856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	75					0.000151284	0.000186668	0.001855	1	0
OCM2	4951	broad.mit.edu	37	7	97617857	97617857	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:97617857G>A	ENST00000257627.4	-	2	156	c.65C>T	c.(64-66)cCa>cTa	p.P22L	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	22							calcium ion binding			lung(4)	4						AAAAGTGTCTGGGTCTGAAGA	0.443000													25	183					0	0	0.008361	0	0
MAP2	4133	broad.mit.edu	37	2	210558031	210558031	+	Missense_Mutation	SNP	G	G	T	rs140194857		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:210558031G>T	ENST00000360351.4	+	7	1643	c.1137G>T	c.(1135-1137)atG>atT	p.M379I	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.M375I	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	379					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CTGACAAAATGGCAGAAGCAC	0.438000													7	46					0.00198382	0.00225084	0.001984	1	0
ROR2	4920	broad.mit.edu	37	9	94493297	94493297	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:94493297C>T	ENST00000375708.3	-	7	1276	c.1078G>A	c.(1078-1080)Ggg>Agg	p.G360R	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.G220R	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	360	Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCGTGCCCCCCTCCAAGCTCA	0.632000													11	38					0	0	0.008291	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559694	140559694	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:140559694G>T	ENST00000239444.2	+	1	2324	c.2079G>T	c.(2077-2079)gtG>gtT	p.V693V		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		693					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTGGTGGTGGCGTTGGCCT	0.672000													20	98					1.00905e-13	1.93692e-13	0.008871	1	0
ADIPOQ	9370	broad.mit.edu	37	3	186572274	186572274	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:186572274G>T	ENST00000412955.2	+	3	657	c.516G>T	c.(514-516)aaG>aaT	p.K172N	ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Missense_Mutation_p.K172N|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.K172N			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	172	C1q.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		AGGATGTGAAGGTCAGCCTCT	0.483000													14	74					0.00185496	0.00213272	0.001855	1	0
SPTA1	6708	broad.mit.edu	37	1	158624459	158624459	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:158624459G>T	ENST00000368148.3	-	21	3158	c.2978C>A	c.(2977-2979)cCc>cAc	p.P993H	SPTA1_ENST00000368147.3_Missense_Mutation_p.P993H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	993	SH3.				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)					GACTTCTCGGGGGCTGCGGGC	0.468000													28	49					7.41945e-09	1.17424e-08	0.005443	1	0
OR2L3	391192	broad.mit.edu	37	1	248223986	248223986	+	Translation_Start_Site	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:248223986G>T	ENST00000359959.3	+	1	3	c.3G>T	c.(1-3)atG>atT	p.M1I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AATGCCCCATGGAAAATTACA	0.408000													15	241					1.49906e-05	1.96538e-05	0.002450	1	0
PRCP	5547	broad.mit.edu	37	11	82561393	82561393	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:82561393C>A	ENST00000313010.3	-	4	760	c.566G>T	c.(565-567)aGg>aTg	p.R189M	PRCP_ENST00000535099.1_Missense_Mutation_p.R84M|PRCP_ENST00000393399.2_Missense_Mutation_p.R210M	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	189					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ATATTTCATCCTAAACCAGGC	0.408000													22	91					2.27731e-05	2.95821e-05	0.001882	1	0
SSFA2	6744	broad.mit.edu	37	2	182779976	182779976	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:182779976G>T	ENST00000431877.2	+	11	1788	c.1609G>T	c.(1609-1611)Gct>Tct	p.A537S	SSFA2_ENST00000409001.1_Missense_Mutation_p.A537S|SSFA2_ENST00000428267.2_Missense_Mutation_p.A384S|SSFA2_ENST00000320370.7_Missense_Mutation_p.A537S|SSFA2_ENST00000409136.1_Missense_Mutation_p.A46S	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	537						cytoplasm|plasma membrane	actin binding	p.A537S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GGGGAGTAGTGCTGATAGTTG	0.418000													20	104					2.4624e-09	4.02867e-09	0.008871	1	0
USPL1	10208	broad.mit.edu	37	13	31232392	31232392	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:31232392G>T	ENST00000255304.4	+	9	2520	c.2178G>T	c.(2176-2178)aaG>aaT	p.K726N		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	726					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)		CTAATTTGAAGAAAAAAGAAA	0.363000													17	64					5.3912e-06	7.29647e-06	0.006122	1	0
NLGN4X	57502	broad.mit.edu	37	X	5811509	5811509	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:5811509C>A	ENST00000381095.3	-	6	2427	c.1800G>T	c.(1798-1800)ttG>ttT	p.L600F	NLGN4X_ENST00000381093.2_Missense_Mutation_p.L620F|NLGN4X_ENST00000381092.1_Missense_Mutation_p.L600F|NLGN4X_ENST00000275857.6_Missense_Mutation_p.L600F|NLGN4X_ENST00000538097.1_Missense_Mutation_p.L600F	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	600					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATATCTCGTTCAAGTTGTGCA	0.483000													30	51					1.56442e-22	3.45643e-22	0.002445	1	0
SLAMF9	89886	broad.mit.edu	37	1	159921480	159921480	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:159921480C>A	ENST00000368093.3	-	4	957	c.841G>T	c.(841-843)Gag>Tag	p.E281*	SLAMF9_ENST00000368092.3_Nonsense_Mutation_p.E190*|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	281						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCTTTGCCTCCTTCCTCAAT	0.517000													10	108					6.40141e-05	8.07202e-05	0.000978	1	0
SOAT1	6646	broad.mit.edu	37	1	179304748	179304748	+	Silent	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:179304748A>T	ENST00000367619.3	+	4	428	c.285A>T	c.(283-285)acA>acT	p.T95T	SOAT1_ENST00000540564.1_Silent_p.T37T|SOAT1_ENST00000539888.1_Silent_p.T30T|SOAT1_ENST00000535686.1_5'UTR	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	95					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GCGCTCTCACAACCTTTTCTG	0.368000													11	124					0	0	0.000978	0	0
SORBS1	10580	broad.mit.edu	37	10	97111089	97111089	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:97111089C>A	ENST00000371247.2	-	25	2448	c.2259G>T	c.(2257-2259)gaG>gaT	p.E753D	SORBS1_ENST00000371239.1_Missense_Mutation_p.E530D|SORBS1_ENST00000277982.5_Missense_Mutation_p.E775D|SORBS1_ENST00000361941.3_Missense_Mutation_p.E753D|SORBS1_ENST00000371227.4_Missense_Mutation_p.E707D|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000354106.3_Missense_Mutation_p.E723D|SORBS1_ENST00000306402.6_Missense_Mutation_p.E500D|SORBS1_ENST00000371246.2_Missense_Mutation_p.E775D|SORBS1_ENST00000371245.3_Missense_Mutation_p.E604D|SORBS1_ENST00000347291.4_Missense_Mutation_p.E565D|SORBS1_ENST00000607232.1_Missense_Mutation_p.E1013D|SORBS1_ENST00000353505.5_Missense_Mutation_p.E604D|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000393949.1_Missense_Mutation_p.E723D|SORBS1_ENST00000474353.2_5'UTR			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	753					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CAATATCAGCCTCTTCTTGCT	0.458000													10	87					7.48243e-07	1.06764e-06	0.006214	1	0
DYNAP	284254	broad.mit.edu	37	18	52262191	52262191	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:52262191C>G	ENST00000321600.1	+	2	203	c.157C>G	c.(157-159)Caa>Gaa	p.Q53E	DYNAP_ENST00000585973.1_Intron	NM_173629.1	NP_775900.1			dynactin associated protein																		TCCAAATGACCAAGAGGCTCA	0.438000													11	80					0	0	0.001368	0	0
SEC16A	9919	broad.mit.edu	37	9	139358874	139358874	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:139358874C>A	ENST00000313050.7	-	7	4517	c.4444G>T	c.(4444-4446)Gag>Tag	p.E1482*	SEC16A_ENST00000431893.2_Nonsense_Mutation_p.E1304*|SEC16A_ENST00000290037.6_Nonsense_Mutation_p.E1304*|SEC16A_ENST00000371706.3_Nonsense_Mutation_p.E1304*	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1304					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCCATTACCTCCATGCTGTGG	0.547000													5	19					1.024e-07	1.54346e-07	0.000602	1	0
MAP2	4133	broad.mit.edu	37	2	210558032	210558032	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:210558032G>T	ENST00000360351.4	+	7	1644	c.1138G>T	c.(1138-1140)Gca>Tca	p.A380S	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.A376S	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	380					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGACAAAATGGCAGAAGCACC	0.438000													7	45					0.00198382	0.00225084	0.001984	1	0
TAF3	83860	broad.mit.edu	37	10	8006002	8006002	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:8006002G>T	ENST00000344293.5	+	3	735	c.529G>T	c.(529-531)Ggc>Tgc	p.G177C		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	177					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GAATTTCCTGGGCAAGAGACC	0.478000													7	49					8.12818e-05	0.000100935	0.001984	1	0
FAM13C	220965	broad.mit.edu	37	10	61115696	61115696	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:61115696C>G	ENST00000277705.6	-	2	171	c.70G>C	c.(70-72)Gaa>Caa	p.E24Q	FAM13C_ENST00000373868.2_Missense_Mutation_p.E24Q|FAM13C_ENST00000373867.3_5'UTR|FAM13C_ENST00000442566.3_Missense_Mutation_p.E24Q|FAM13C_ENST00000468840.2_5'UTR|FAM13C_ENST00000419214.2_Missense_Mutation_p.E24Q|FAM13C_ENST00000435852.2_Missense_Mutation_p.E24Q|FAM13C_ENST00000422313.2_Missense_Mutation_p.E24Q			Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	24										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACTGGATCTTCGTCACACCTG	0.418000													15	46					0	0	0.004990	0	0
FAS	355	broad.mit.edu	37	10	90768739	90768739	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:90768739G>T	ENST00000355740.2	+	4	648	c.428G>T	c.(427-429)tGt>tTt	p.C143F	FAS_ENST00000355279.2_Missense_Mutation_p.C143F|FAS_ENST00000357339.2_Missense_Mutation_p.C143F|FAS_ENST00000352159.4_Missense_Mutation_p.C143F|FAS_ENST00000313771.5_3'UTR	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	143					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		TGTGAACACTGTGACCCTTGC	0.378000													84	487					5.86298e-51	1.36744e-50	0.003610	1	0
MYH7	4625	broad.mit.edu	37	14	23902306	23902306	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:23902306G>T	ENST00000355349.3	-	4	494	c.332C>A	c.(331-333)tCc>tAc	p.S111Y		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	111	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GATCATCCAGGAGCCGTAGCG	0.557000													9	38					1.12685e-05	1.49636e-05	0.004482	1	0
TUBGCP4	27229	broad.mit.edu	37	15	43687327	43687327	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:43687327A>T	ENST00000564079.1	+	10	1277	c.1037A>T	c.(1036-1038)gAa>gTa	p.E346V	TUBGCP4_ENST00000399460.3_Missense_Mutation_p.E210V|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.E346V	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	346					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TTGATGGTAGAAGAATCCGAT	0.418000													44	206					0	0	0.003610	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78310192	78310192	+	Silent	SNP	T	T	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:78310192T>G	ENST00000409931.3	-	7	1649	c.1578A>C	c.(1576-1578)gcA>gcC	p.A526A	TBC1D2B_ENST00000300584.3_Silent_p.A526A			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	526						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GACCCACCTTTGCCATCAGAT	0.428000													3	17					0	0	0.004672	0	0
POLB	5423	broad.mit.edu	37	8	42220148	42220148	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:42220148G>T	ENST00000265421.4	+	11	810	c.640G>T	c.(640-642)Gtt>Ttt	p.V214F	POLB_ENST00000538005.1_Missense_Mutation_p.V60F	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	214					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	GTTACATCAGGTTGTGGAGCA	0.323000								DNA polymerases (catalytic subunits)					11	73					9.70103e-10	1.63015e-09	0.008291	1	0
ASCL4	121549	broad.mit.edu	37	12	108169004	108169004	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:108169004G>T	ENST00000342331.4	+	1	843	c.12G>T	c.(10-12)acG>acT	p.T4T		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	3					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding	p.T3T(1)		breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						TGATGGAGACGCGTAAACCGG	0.597000													10	73					9.31168e-06	1.24826e-05	0.001855	1	0
CXorf57	55086	broad.mit.edu	37	X	105868404	105868404	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:105868404C>A	ENST00000372548.4	+	3	980	c.871C>A	c.(871-873)Cgg>Agg	p.R291R	CXorf57_ENST00000372544.2_Silent_p.R291R	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	291										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TAAAAGTTTGCGGGTTGGTTT	0.413000													27	44					1.50538e-07	2.22155e-07	0.006320	1	0
PRUNE2	158471	broad.mit.edu	37	9	79461440	79461440	+	Missense_Mutation	SNP	G	G	A	rs149982700		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:79461440G>A	ENST00000376718.3	-	4	622	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	PRUNE2_ENST00000376713.3_Missense_Mutation_p.R167C|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	167					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCTCTGAGGCGATGAGCCAGT	0.507000													9	38					0	0	0.006214	0	0
FGFR2	2263	broad.mit.edu	37	10	123260452	123260452	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:123260452C>A	ENST00000358487.5	-	11	1721	c.1449G>T	c.(1447-1449)ctG>ctT	p.L483L	FGFR2_ENST00000369056.1_Silent_p.L484L|FGFR2_ENST00000457416.2_Silent_p.L484L|FGFR2_ENST00000357555.5_Silent_p.L394L|FGFR2_ENST00000478859.1_Silent_p.L255L|FGFR2_ENST00000369061.4_Silent_p.L371L|FGFR2_ENST00000351936.6_Silent_p.L481L|FGFR2_ENST00000346997.2_Silent_p.L481L|FGFR2_ENST00000369059.1_Silent_p.L369L|FGFR2_ENST00000360144.3_Silent_p.L395L|FGFR2_ENST00000356226.4_Silent_p.L366L|FGFR2_ENST00000369060.4_Silent_p.L367L	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	483	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GGGGCTTGCCCAGTGTCAGCC	0.502000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				9	41					7.48243e-07	1.06764e-06	0.006214	1	0
CHST1	8534	broad.mit.edu	37	11	45672434	45672434	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:45672434C>A	ENST00000308064.2	-	4	710	c.40G>T	c.(40-42)Gcc>Tcc	p.A14S		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	14					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCAATGGAGGCCAGGGCAAGG	0.652000													11	54					0.00829132	0.00917249	0.008291	1	0
MUC16	94025	broad.mit.edu	37	19	9072988	9072988	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:9072988C>T	ENST00000397910.4	-	3	14661	c.14458G>A	c.(14458-14460)Gat>Aat	p.D4820N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4822	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTCTATATCTGTGGTGGCT	0.463000													8	43					0	0	0.003080	0	0
SLC9A7	84679	broad.mit.edu	37	X	46541867	46541867	+	Silent	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:46541867T>C	ENST00000328306.4	-	2	454	c.429A>G	c.(427-429)ttA>ttG	p.L143L		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	143					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						TGACATTCACTAATAAGGTAC	0.488000													14	12					0	0	0.002450	0	0
ENOSF1	55556	broad.mit.edu	37	18	683356	683356	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:683356C>A	ENST00000319815.6	-	3	1340	c.76G>T	c.(76-78)Gat>Tat	p.D26Y	ENOSF1_ENST00000580982.1_Missense_Mutation_p.D180Y|ENOSF1_ENST00000251101.7_Missense_Mutation_p.D256Y|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000383578.3_Missense_Mutation_p.D174Y|ENOSF1_ENST00000340116.7_Missense_Mutation_p.D277Y			Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	256					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						TCAGGCACATCCCAGCGCTGG	0.592000													14	62					0.000151284	0.000186668	0.001855	1	0
MUC17	140453	broad.mit.edu	37	7	100682806	100682806	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:100682806G>A	ENST00000306151.4	+	3	8173	c.8109G>A	c.(8107-8109)ctG>ctA	p.L2703L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2703	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACCACGCTGTTGGCCAATT	0.493000													40	254					0	0	0.006230	0	0
GPR98	84059	broad.mit.edu	37	5	89933649	89933649	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:89933649C>T	ENST00000405460.2	+	11	2220	c.2124C>T	c.(2122-2124)ggC>ggT	p.G708G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	708	Calx-beta 5.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGATATAGGCCCCTTTAATG	0.428000													10	55					0	0	0.006214	0	0
OR10G4	390264	broad.mit.edu	37	11	123886882	123886882	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:123886882G>T	ENST00000320891.4	+	1	601	c.601G>T	c.(601-603)Gac>Tac	p.D201Y		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CATCTTTGTGGACATTGGGAT	0.562000													17	97					3.41278e-10	5.83597e-10	0.004990	1	0
JAKMIP1	152789	broad.mit.edu	37	4	6064087	6064087	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:6064087C>T	ENST00000409021.3	-	10	1961	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	JAKMIP1_ENST00000282924.5_Silent_p.L504L|JAKMIP1_ENST00000410077.2_Silent_p.L339L|JAKMIP1_ENST00000409371.3_Silent_p.L319L|JAKMIP1_ENST00000409831.1_Silent_p.L504L	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	504	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTCCTGGAGCAGGGCGTAGG	0.672000													28	47					0	0	0.004656	0	0
PDE3A	5139	broad.mit.edu	37	12	20806889	20806889	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:20806889A>T	ENST00000359062.3	+	15	2974	c.2934A>T	c.(2932-2934)gaA>gaT	p.E978D	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	978	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AGGGTGATGAAGAGGCCAGCC	0.443000													18	64					0	0	0.007413	0	0
HEATR2	54919	broad.mit.edu	37	7	801407	801407	+	Silent	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:801407C>G	ENST00000297440.6	+	7	1508	c.1488C>G	c.(1486-1488)cgC>cgG	p.R496R	HEATR2_ENST00000313147.5_Silent_p.R496R	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	496							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		ACCTGGAGCGCCTGCTGCTGT	0.597000													4	9					0	0	0.009096	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451483	38451483	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:38451483G>A	ENST00000322350.5	+	19	2956	c.2610G>A	c.(2608-2610)ctG>ctA	p.L870L	EGFLAM_ENST00000397210.3_Silent_p.L13L|EGFLAM_ENST00000514476.1_Silent_p.L13L|EGFLAM_ENST00000397202.2_Silent_p.L236L|EGFLAM_ENST00000506135.1_Silent_p.L13L|EGFLAM_ENST00000336740.6_Silent_p.L636L|EGFLAM_ENST00000354891.3_Silent_p.L878L	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	878	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GCCTTTTGCTGTGGAGGGGAG	0.502000													27	217					0	0	0.006320	0	0
FCGBP	8857	broad.mit.edu	37	19	40421158	40421158	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:40421158G>T	ENST00000221347.6	-	5	2770	c.2763C>A	c.(2761-2763)cgC>cgA	p.R921R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	921	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCGCACGGCGCGCGTGTAGC	0.711000													9	24					1.08611e-07	1.60893e-07	0.000978	1	0
ZFHX4	79776	broad.mit.edu	37	8	77617888	77617888	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:77617888C>A	ENST00000521891.2	+	2	2013	c.1565C>A	c.(1564-1566)aCc>aAc	p.T522N	ZFHX4_ENST00000518282.1_Missense_Mutation_p.T522N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T522N|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T522N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	522						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAAAGGGTACCTCGTCCTCC	0.428000										HNSCC(33;0.089)			8	30					2.17888e-05	2.83272e-05	0.006214	1	0
RAD51B	5890	broad.mit.edu	37	14	68353794	68353794	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:68353794A>T	ENST00000487270.1	+	7	677	c.629A>T	c.(628-630)gAc>gTc	p.D210V	RAD51B_ENST00000488612.1_Missense_Mutation_p.D210V|RAD51B_ENST00000390683.3_Missense_Mutation_p.D210V|RAD51B_ENST00000487861.1_Missense_Mutation_p.D210V|RAD51B_ENST00000471583.1_Missense_Mutation_p.D210V	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	210					blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTGATTCTTGACTCTGTTGCT	0.328000								Direct reversal of damage					15	93					0	0	0.004007	0	0
PMFBP1	83449	broad.mit.edu	37	16	72156888	72156888	+	Splice_Site	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:72156888C>A	ENST00000537465.1	-	19	2867		c.e19-1		PMFBP1_ENST00000537792.1_Splice_Site|PMFBP1_ENST00000355636.6_Splice_Site|PMFBP1_ENST00000237353.10_Splice_Site			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1											NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				ATTGGCGACCCTGTAATAAAA	0.527000													10	45					3.86212e-05	4.92206e-05	0.008291	1	0
SCNN1B	6338	broad.mit.edu	37	16	23387172	23387172	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:23387172C>A	ENST00000343070.2	+	8	1442	c.1266C>A	c.(1264-1266)gaC>gaA	p.D422E	SCNN1B_ENST00000568085.1_Missense_Mutation_p.D386E|SCNN1B_ENST00000307331.5_Missense_Mutation_p.D467E|SCNN1B_ENST00000568923.1_Missense_Mutation_p.D395E	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	422					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ACTTCCCAGACTGGGGTGAGC	0.617000													12	38					3.03607e-14	5.89355e-14	0.001368	1	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170187	20170187	+	RNA	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:20170187C>A	ENST00000338912.5	-	0	84																		p.E29Q(1)									TTCTTCACCTCAGCCCCAGAC	0.572000													9	58					7.48243e-07	1.06764e-06	0.006214	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53653041	53653041	+	Missense_Mutation	SNP	C	C	G	rs141808948	by1000genomes	TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:53653041C>G	ENST00000262135.4	-	22	3365	c.3272G>C	c.(3271-3273)cGg>cCg	p.R1091P	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R1125P|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R1137P|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.R1171P	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1171					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AACAAACAGCCGTTGGATAGT	0.423000													28	134					0	0	0.006320	0	0
LUZP2	338645	broad.mit.edu	37	11	25004823	25004823	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:25004823C>T	ENST00000533227.1	+	9	778	c.491C>T	c.(490-492)gCa>gTa	p.A164V	LUZP2_ENST00000336930.6_Missense_Mutation_p.A250V	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	250	Leucine-zipper.					extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTTCCAGATGCAGCGGCCAAA	0.433000													14	123					0	0	0.003163	0	0
ATOH1	474	broad.mit.edu	37	4	94750797	94750797	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:94750797C>A	ENST00000306011.3	+	1	756	c.720C>A	c.(718-720)acC>acA	p.T240T		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	240					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		ACCTTCGCACCGCGGCCTCCT	0.701000													10	13					5.50884e-06	7.41685e-06	0.001368	1	0
ARSI	340075	broad.mit.edu	37	5	149676788	149676788	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:149676788G>A	ENST00000328668.7	-	2	2278	c.1699C>T	c.(1699-1701)Caa>Taa	p.Q567*		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	567						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGATCCGTTGGGACATTAGC	0.527000													9	76					0	0	0.008291	0	0
PKHD1	5314	broad.mit.edu	37	6	51892955	51892955	+	Splice_Site	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:51892955C>A	ENST00000371117.3	-	30	3834	c.3560_splice	c.e30+1	p.G1187_splice	PKHD1_ENST00000340994.4_Splice_Site_p.G1187_splice	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1187	IPT/TIG 6; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCACCTCACCCTTGTGAGTGA	0.473000													29	169					1.08312e-15	2.19597e-15	0.009535	1	0
POU2AF1	5450	broad.mit.edu	37	11	111229633	111229633	+	Silent	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:111229633C>G	ENST00000393067.3	-	2	541	c.27G>C	c.(25-27)ccG>ccC	p.P9P		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	9					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GGGCTTGCTCCGGAGCTGTGG	0.637000			T	BCL6	NHL								8	24					0	0	0.003080	0	0
CNTN1	1272	broad.mit.edu	37	12	41386967	41386967	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:41386967A>T	ENST00000551295.2	+	17	2126	c.2009A>T	c.(2008-2010)gAc>gTc	p.D670V	CNTN1_ENST00000348761.2_Missense_Mutation_p.D659V|CNTN1_ENST00000347616.1_Missense_Mutation_p.D670V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	670	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGAGCAGTGGACTTAATCCCA	0.388000													23	106					0	0	0.003330	0	0
CCDC138	165055	broad.mit.edu	37	2	109429360	109429360	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:109429360G>T	ENST00000295124.4	+	9	1078	c.1018G>T	c.(1018-1020)Gca>Tca	p.A340S	CCDC138_ENST00000412964.2_Missense_Mutation_p.A340S	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	340										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						ACAAGAAAAAGCACCAGTTTC	0.363000													11	58					1.08611e-07	1.60893e-07	0.000978	1	0
TAS1R2	80834	broad.mit.edu	37	1	19167005	19167005	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:19167005C>A	ENST00000375371.3	-	6	1629	c.1608G>T	c.(1606-1608)caG>caT	p.Q536H		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	536					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TCGGGCAGGCCTGGCATTCAT	0.587000													6	22					3.59834e-05	4.61623e-05	0.001168	1	0
GUCY1A2	2977	broad.mit.edu	37	11	106810676	106810676	+	Missense_Mutation	SNP	T	T	A	rs138928902		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:106810676T>A	ENST00000526355.1	-	4	1184	c.716A>T	c.(715-717)tAc>tTc	p.Y239F	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.Y239F|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.Y239F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	239					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AGGGTGGAAGTAGTGGAGCAT	0.473000													15	98					0	0	0.003163	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812801	31812801	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr21:31812801G>A	ENST00000334067.3	+	1	205	c.156G>A	c.(154-156)caG>caA	p.Q52Q		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	52						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						ATGGCTGTCAGGAGACCTACT	0.488000													32	63					0	0	0.002836	0	0
MAS1	4142	broad.mit.edu	37	6	160328223	160328223	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:160328223C>T	ENST00000252660.4	+	1	250	c.236C>T	c.(235-237)tCa>tTa	p.S79L		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	79					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		GCAGACATCTCACTGCTCTTC	0.423000													31	260					0	0	0.004289	0	0
STXBP5L	9515	broad.mit.edu	37	3	121137303	121137303	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:121137303C>G	ENST00000273666.6	+	27	3689	c.3418C>G	c.(3418-3420)Cgg>Ggg	p.R1140G	STXBP5L_ENST00000471454.1_Missense_Mutation_p.R1116G	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1140	v-SNARE coiled-coil homology.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GACCCGTGCACGGATTGCACT	0.522000													4	20					0	0	0.009096	0	0
VPS13D	55187	broad.mit.edu	37	1	12443042	12443042	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:12443042G>T	ENST00000358136.3	+	58	11328	c.11198G>T	c.(11197-11199)gGa>gTa	p.G3733V	VPS13D_ENST00000356315.4_Missense_Mutation_p.G3708V|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3732					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TAGGCCAAAGGAGGACTTTCT	0.403000													25	136					2.44723e-14	4.76243e-14	0.004656	1	0
ACTL7B	10880	broad.mit.edu	37	9	111617507	111617507	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:111617507T>A	ENST00000374667.3	-	1	1732	c.704A>T	c.(703-705)cAg>cTg	p.Q235L		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	235						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ATTGAGCAGCTGCATCAGGTA	0.637000													7	39					0	0	0.006214	0	0
EXD2	55218	broad.mit.edu	37	14	69703224	69703224	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:69703224G>T	ENST00000409014.1	+	9	1539	c.882G>T	c.(880-882)ctG>ctT	p.L294L	EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409949.1_Silent_p.L294L|EXD2_ENST00000449989.1_Silent_p.L294L|EXD2_ENST00000409675.1_Silent_p.L294L|EXD2_ENST00000409242.1_Silent_p.L294L|EXD2_ENST00000409018.3_Silent_p.L419L|EXD2_ENST00000312994.5_Silent_p.L419L	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	294					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						AAGAGAACCTGTGTGTAGTGT	0.498000													13	84					2.61681e-11	4.68129e-11	0.002450	1	0
ACSF3	197322	broad.mit.edu	37	16	89187304	89187304	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:89187304G>T	ENST00000317447.4	+	7	1599	c.1222G>T	c.(1222-1224)Gac>Tac	p.D408Y	ACSF3_ENST00000378345.4_Missense_Mutation_p.D143Y|ACSF3_ENST00000406948.3_Missense_Mutation_p.D408Y	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	408					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CGCAGAGGGAGACGAGAGGGG	0.612000													21	85					8.10497e-08	1.22403e-07	0.010504	1	0
LTBP2	4053	broad.mit.edu	37	14	74976540	74976540	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:74976540C>A	ENST00000261978.4	-	21	3560	c.3174G>T	c.(3172-3174)cgG>cgT	p.R1058R	LTBP2_ENST00000556690.1_Silent_p.R1058R	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1058	Cys-rich.|EGF-like 9; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCATGAGGCCCGGCTGGCAC	0.612000													13	79					9.31168e-06	1.24826e-05	0.001855	1	0
SC5D	6309	broad.mit.edu	37	11	121174133	121174133	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:121174133G>T	ENST00000264027.4	+	2	423	c.49G>T	c.(49-51)Gtg>Ttg	p.V17L	SC5D_ENST00000392789.2_Missense_Mutation_p.V17L|SC5D_ENST00000534230.1_Missense_Mutation_p.V17L	NM_006918.4	NP_008849.2			sterol-C5-desaturase																		TACACCATACGTGTATCCAGC	0.388000													19	75					3.51602e-12	6.49981e-12	0.008871	1	0
NT5E	4907	broad.mit.edu	37	6	86200261	86200261	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:86200261C>A	ENST00000257770.3	+	7	1295	c.1246C>A	c.(1246-1248)Ccc>Acc	p.P416T	NT5E_ENST00000369651.3_Intron	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	416					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	TGCTGTATTGCCCTTTGGAGG	0.502000													16	66					2.23348e-06	3.09022e-06	0.004007	1	0
FNDC1	84624	broad.mit.edu	37	6	159653416	159653416	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:159653416G>T	ENST00000297267.9	+	11	2072	c.1872G>T	c.(1870-1872)gcG>gcT	p.A624A	FNDC1_ENST00000340366.6_Silent_p.A561A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	624						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCCACCACGCGTCCACCCAGG	0.667000													7	34					0.000274275	0.000328495	0.004482	1	0
C19orf47	126526	broad.mit.edu	37	19	40832338	40832338	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:40832338C>A	ENST00000582783.1	-	7	618	c.606G>T	c.(604-606)cgG>cgT	p.R202R	C19orf47_ENST00000392035.2_Silent_p.R135R	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	202										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CAGCAGTGACCCGGCGCCGCT	0.627000													17	43					4.7546e-09	7.62605e-09	0.004007	1	0
TTN	7273	broad.mit.edu	37	2	179632585	179632585	+	Silent	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:179632585A>G	ENST00000589042.1	-	40	9596	c.9372T>C	c.(9370-9372)gcT>gcC	p.A3124A	TTN_ENST00000342175.6_Silent_p.A3078A|TTN_ENST00000591111.1_Silent_p.A3124A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.A3078A|TTN_ENST00000360870.5_Silent_p.A3124A|TTN_ENST00000359218.5_Silent_p.A3078A|TTN_ENST00000342992.6_Silent_p.A3124A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2861	Ig-like 18.						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)			TGTACTTCCCAGCATCAGACA	0.453000													21	101					0	0	0.010504	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460226	107460226	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:107460226G>T	ENST00000409382.3	-	2	818	c.208C>A	c.(208-210)Ccg>Acg	p.P70T	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.P70T|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.P70T	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	70					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCCCCAGGCGGGGAGGGCTCA	0.706000													6	28					0.00116845	0.00134841	0.001168	1	0
EFCAB12	90288	broad.mit.edu	37	3	129140492	129140492	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:129140492C>G	ENST00000505956.1	-	2	366	c.204G>C	c.(202-204)caG>caC	p.Q68H	EFCAB12_ENST00000326085.3_Missense_Mutation_p.Q68H	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		TAAGGGGTGTCTGATCCTCCT	0.567000													3	33					0	0	0.009096	0	0
KCNAB1	7881	broad.mit.edu	37	3	155861203	155861203	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:155861203C>A	ENST00000471742.1	+	1	453	c.236C>A	c.(235-237)gCa>gAa	p.A79E	KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000389636.5_Intron	NM_003471.3	NP_003462.2	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	90						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACGGGCATGGCATACAGGTAC	0.458000													19	95					7.87624e-14	1.51941e-13	0.002780	1	0
SERPINB3	6317	broad.mit.edu	37	18	61328307	61328307	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:61328307G>T	ENST00000283752.5	-	2	287	c.144C>A	c.(142-144)aaC>aaA	p.N48K	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.N48K	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	48					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GTTGTGCAGTGTTGTCTTTGG	0.428000													28	109					6.38683e-12	1.16816e-11	0.008361	1	0
CFHR4	10877	broad.mit.edu	37	1	196876005	196876005	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:196876005C>A	ENST00000367416.2	+	4	588	c.451C>A	c.(451-453)Cct>Act	p.P151T	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TTGTGATATGCCTGTTTTTGA	0.353000													17	40					2.94398e-08	4.54793e-08	0.007413	1	0
OR10V1	390201	broad.mit.edu	37	11	59480592	59480592	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:59480592A>G	ENST00000307552.2	-	1	745	c.727T>C	c.(727-729)Tct>Cct	p.S243P		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						ATGTGAGAAGAGCAGGTAGAG	0.532000													16	40					0	0	0.003163	0	0
FBN2	2201	broad.mit.edu	37	5	127704962	127704962	+	Missense_Mutation	SNP	C	C	T	rs149733159		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:127704962C>T	ENST00000508053.1	-	22	3135	c.2161G>A	c.(2161-2163)Ggt>Agt	p.G721S	FBN2_ENST00000262464.4_Missense_Mutation_p.G721S|FBN2_ENST00000508989.1_Missense_Mutation_p.G688S|FBN2_ENST00000511489.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	721	TB 3.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTCACTGCACCGGGGAAAGGA	0.488000													7	53					0	0	0.001984	0	0
ARL11	115761	broad.mit.edu	37	13	50204760	50204760	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:50204760G>A	ENST00000282026.1	+	2	512	c.177G>A	c.(175-177)ctG>ctA	p.L59L	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	59					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		ACGTGTCACTGACTCTCTGGG	0.597000													9	39					0	0	0.008291	0	0
CCNB1IP1	57820	broad.mit.edu	37	14	20779879	20779879	+	Missense_Mutation	SNP	G	G	C	rs147393200		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:20779879G>C	ENST00000398169.3	-	7	1280	c.664C>G	c.(664-666)Cct>Gct	p.P222A	CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.P222A|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.P222A|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.P222A|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.P222A|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.P222A			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	222						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		TTTCGAACAGGTGTATTATCC	0.383000			T	HMGA2	leiomyoma								8	94					0	0	0.006214	0	0
HAPLN3	145864	broad.mit.edu	37	15	89421205	89421205	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:89421205T>A	ENST00000359595.3	-	5	1293	c.1079A>T	c.(1078-1080)cAc>cTc	p.H360L	HAPLN3_ENST00000562889.1_Missense_Mutation_p.H422L	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	360					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					CAGGTCCTAGTGCTGGCGGTA	0.577000													10	25					0	0	0.006214	0	0
PCSK1	5122	broad.mit.edu	37	5	95728808	95728808	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:95728808A>T	ENST00000311106.3	-	14	2396	c.2159T>A	c.(2158-2160)cTg>cAg	p.L720Q	PCSK1_ENST00000508626.1_Missense_Mutation_p.L673Q|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	720					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTCATTATACAGACTGTCTTC	0.418000													45	213					0	0	0.009718	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406197	105406197	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:105406197C>A	ENST00000333244.5	-	7	15710	c.15591G>T	c.(15589-15591)atG>atT	p.M5197I	AHNAK2_ENST00000557457.1_Missense_Mutation_p.M195I	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5197						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TAAGGCTGGGCATGCGGAACT	0.567000													116	195					7.47599e-62	1.7542e-61	0.003610	1	0
ANKRD12	23253	broad.mit.edu	37	18	9254713	9254713	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:9254713A>T	ENST00000383440.2	+	8	1636	c.1379A>T	c.(1378-1380)aAa>aTa	p.K460I	ANKRD12_ENST00000400020.3_Missense_Mutation_p.K460I|ANKRD12_ENST00000262126.3_Missense_Mutation_p.K483I	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	483						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						aataaaaataaagagaaccaa	0.303000													7	38					0	0	0.001984	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509174	106509174	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:106509174G>T	ENST00000359195.3	+	2	1478	c.1168G>T	c.(1168-1170)Ggg>Tgg	p.G390W	PIK3CG_ENST00000496166.1_Missense_Mutation_p.G390W|PIK3CG_ENST00000440650.2_Missense_Mutation_p.G390W	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	390					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CATCCAGCATGGGCAACAAGT	0.507000													12	53					4.36969e-10	7.41509e-10	0.001855	1	0
UBE2E3	10477	broad.mit.edu	37	2	181846874	181846874	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:181846874A>T	ENST00000410062.4	+	2	498	c.105A>T	c.(103-105)caA>caT	p.Q35H	UBE2E3_ENST00000602959.1_Missense_Mutation_p.Q35H|UBE2E3_ENST00000602710.1_Missense_Mutation_p.Q35H|UBE2E3_ENST00000392415.2_Missense_Mutation_p.Q35H|UBE2E3_ENST00000602632.1_Missense_Mutation_p.Q35H|UBE2E3_ENST00000602475.1_Missense_Mutation_p.Q35H	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	35					protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						CTGAAGAACAAGAGGAAAGAA	0.502000													8	63					0	0	0.004482	0	0
APOB	338	broad.mit.edu	37	2	21225502	21225502	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:21225502A>T	ENST00000233242.1	-	29	12919	c.12792T>A	c.(12790-12792)gaT>gaA	p.D4264E		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4264					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCGAGATTACATCTATTAGTT	0.358000													25	131					0	0	0.003330	0	0
OR2T1	26696	broad.mit.edu	37	1	248569300	248569300	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:248569300G>A	ENST00000366474.1	+	1	5	c.5G>A	c.(4-6)tGg>tAg	p.W2*		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCTCAATGTGGCAAGAATAC	0.294000													33	53					0	0	0.002445	0	0
RBFOX1	54715	broad.mit.edu	37	16	7743371	7743371	+	Splice_Site	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:7743371T>A	ENST00000547372.1	+	15	1483		c.e15+2		RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000552089.1_Splice_Site|RBFOX1_ENST00000340209.4_Intron|RBFOX1_ENST00000355637.4_Splice_Site|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000311745.5_Intron|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000535565.2_Splice_Site|RBFOX1_ENST00000422070.4_Intron			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCTCTGCAGGTAACAAACGTT	0.393000													13	81					0	0	0.001368	0	0
NEUROG2	63973	broad.mit.edu	37	4	113436203	113436203	+	Silent	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:113436203G>C	ENST00000313341.3	-	2	755	c.429C>G	c.(427-429)ccC>ccG	p.P143P		NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	143	Helix-loop-helix motif.				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		TGGCGTCCTCGGGGAACGTGG	0.652000													10	31					0	0	0.006214	0	0
AC009120.6	0	broad.mit.edu	37	16	74368843	74368843	+	RNA	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:74368843C>G	ENST00000561921.1	-	0	401																											TAGGACAACTCAGACAGCACA	0.483000													16	178					0	0	0.001882	0	0
CYBRD1	79901	broad.mit.edu	37	2	172411085	172411085	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:172411085G>T	ENST00000375252.3	+	3	469	c.400G>T	c.(400-402)Gct>Tct	p.A134S	CYBRD1_ENST00000409484.1_Silent_p.T145T|CYBRD1_ENST00000321348.4_Silent_p.T203T	NM_001127383.1	NP_001120855.1	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	0	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						TCGTAAATACGCTTGGCCTTC	0.443000													11	42					2.80697e-09	4.57313e-09	0.000978	1	0
LILRB1	10859	broad.mit.edu	37	19	55146178	55146178	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:55146178C>A	ENST00000396331.1	+	11	1804	c.1447C>A	c.(1447-1449)Ctc>Atc	p.L483I	LILRB1_ENST00000396315.1_Missense_Mutation_p.L484I|LILRB1_ENST00000396332.4_Missense_Mutation_p.L483I|LILRB1_ENST00000427581.2_Missense_Mutation_p.L533I|LILRB1_ENST00000448689.1_Missense_Mutation_p.L483I|LILRB1_ENST00000418536.2_Missense_Mutation_p.L467I|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000434867.2_Missense_Mutation_p.L483I|LILRB1_ENST00000396317.1_Missense_Mutation_p.L467I|LILRB1_ENST00000324602.7_Missense_Mutation_p.L484I|LILRB1_ENST00000396327.3_Missense_Mutation_p.L484I|LILRB1_ENST00000396321.2_Missense_Mutation_p.L483I	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	483					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		cttcctcatcctccGACATCG	0.607000										HNSCC(37;0.09)			37	53					6.19805e-25	1.38919e-24	0.005524	1	0
DHX9	1660	broad.mit.edu	37	1	182856400	182856400	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:182856400G>T	ENST00000367549.3	+	28	3754	c.3644G>T	c.(3643-3645)gGt>gTt	p.G1215V	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1215	NTD.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCAGGTGTTGGTGGAGGCTAT	0.582000													48	59					6.34439e-16	1.29646e-15	0.003610	1	0
AGL	178	broad.mit.edu	37	1	100346946	100346946	+	Silent	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:100346946A>T	ENST00000294724.4	+	16	2578	c.2100A>T	c.(2098-2100)gcA>gcT	p.A700A	AGL_ENST00000370165.3_Silent_p.A700A|AGL_ENST00000361915.3_Silent_p.A700A|AGL_ENST00000370161.2_Silent_p.A684A|AGL_ENST00000361522.4_Silent_p.A683A|AGL_ENST00000370163.3_Silent_p.A700A|AGL_ENST00000361302.3_Silent_p.A684A	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	700					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GCATTATTGCAGCCAGGTGTG	0.393000													34	137					0	0	0.005524	0	0
SEC31B	25956	broad.mit.edu	37	10	102269195	102269195	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:102269195C>A	ENST00000370345.3	-	4	374	c.277G>T	c.(277-279)Gac>Tac	p.D93Y	SEC31B_ENST00000535773.1_Intron|SEC31B_ENST00000370329.5_Missense_Mutation_p.D93Y|NDUFB8_ENST00000531258.1_Intron|SEC31B_ENST00000451524.1_Missense_Mutation_p.D93Y|NDUFB8_ENST00000557395.1_Intron	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	93					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ATGCCATTGTCCCCGCCGCCA	0.537000											OREG0020441	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	67					5.18039e-06	7.04806e-06	0.003080	1	0
RYR2	6262	broad.mit.edu	37	1	237947849	237947849	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:237947849G>T	ENST00000366574.2	+	90	13154	c.12837G>T	c.(12835-12837)atG>atT	p.M4279I	RYR2_ENST00000542537.1_Missense_Mutation_p.M4263I|RYR2_ENST00000360064.6_Missense_Mutation_p.M4285I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4279					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)			TGAAGGACATGGTCACGGCCT	0.463000													13	29					1.05317e-09	1.7602e-09	0.002450	1	0
GAGE1	2543	broad.mit.edu	37	X	49369624	49369624	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:49369624C>A	ENST00000381709.2	+	5	466	c.355C>A	c.(355-357)Cag>Aag	p.Q119K	GAGE1_ENST00000381700.6_Intron			Q13065	GAGE1_HUMAN	G antigen 1	119					cellular defense response							Ovarian(276;0.236)					ctatgttgcccagactggGAT	0.418000													11	18					1.33987e-11	2.43057e-11	0.008291	1	0
TMF1	7110	broad.mit.edu	37	3	69078995	69078995	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:69078995C>A	ENST00000543976.1	-	11	2820	c.2574G>T	c.(2572-2574)agG>agT	p.R858S	CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.R855S|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	855					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GTTTACACAGCCTATTTTTCT	0.373000													19	159					9.7654e-05	0.000121072	0.007413	1	0
ZNF461	92283	broad.mit.edu	37	19	37129889	37129889	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:37129889C>A	ENST00000588268.1	-	6	1585	c.1358G>T	c.(1357-1359)tGt>tTt	p.C453F	ZNF461_ENST00000360357.4_Missense_Mutation_p.C430F|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAGGTGTGAACACTGTCTAAA	0.398000													13	47					0.00136819	0.00157657	0.001368	1	0
KIF2B	84643	broad.mit.edu	37	17	51901928	51901928	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:51901928T>G	ENST00000268919.4	+	1	1690	c.1534T>G	c.(1534-1536)Tcc>Gcc	p.S512A		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	512					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGGCCAGAACTCCTCCACTTG	0.448000													8	58					0	0	0.004482	0	0
UFL1	23376	broad.mit.edu	37	6	96990865	96990865	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:96990865G>C	ENST00000369278.4	+	12	1441	c.1375G>C	c.(1375-1377)Gat>Cat	p.D459H		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	459					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										TGATGATAGTGATGATGAATC	0.378000													20	103					0	0	0.002780	0	0
CPED1	79974	broad.mit.edu	37	7	120737849	120737849	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:120737849G>T	ENST00000310396.5	+	6	1180	c.713G>T	c.(712-714)cGt>cTt	p.R238L	CPED1_ENST00000450913.2_Missense_Mutation_p.R238L|CPED1_ENST00000423795.1_Missense_Mutation_p.R18L	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		GTGAAGCCACGTGTGTGGAAA	0.443000													35	116					1.36615e-20	2.99702e-20	0.002836	1	0
RGS6	9628	broad.mit.edu	37	14	72818844	72818844	+	Silent	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:72818844G>C	ENST00000553530.1	+	3	333	c.126G>C	c.(124-126)ggG>ggC	p.G42G	RGS6_ENST00000404301.2_Silent_p.G42G|RGS6_ENST00000555571.1_Silent_p.G42G|RGS6_ENST00000406236.4_Silent_p.G42G|RGS6_ENST00000553525.1_Silent_p.G42G|RGS6_ENST00000556437.1_Silent_p.G42G|RGS6_ENST00000407322.4_Silent_p.G42G|RGS6_ENST00000343854.6_Silent_p.G42G|RGS6_ENST00000402788.2_Silent_p.G42G|RGS6_ENST00000355512.6_Silent_p.G42G	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	42	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ACAAGACAGGGGGTGTGCCCA	0.408000													4	23					0	0	0.000602	0	0
TRMT10C	54931	broad.mit.edu	37	3	101283658	101283658	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:101283658C>T	ENST00000309922.6	+	2	187	c.33C>T	c.(31-33)gtC>gtT	p.V11V		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)																		GTGTTAGTGTCAATTTCTTCA	0.328000													33	245					0	0	0.003755	0	0
FBXO18	84893	broad.mit.edu	37	10	5956210	5956210	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:5956210G>T	ENST00000379999.5	+	9	1631	c.1527G>T	c.(1525-1527)gtG>gtT	p.V509V	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Silent_p.V458V|FBXO18_ENST00000379994.1_Silent_p.V195V	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	458					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CTCTCCAGGTGGTGAAAATTA	0.453000													19	85					8.34094e-07	1.18469e-06	0.008871	1	0
PAX1	5075	broad.mit.edu	37	20	21687545	21687545	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:21687545C>A	ENST00000398485.2	+	2	810	c.756C>A	c.(754-756)taC>taA	p.Y252*	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Nonsense_Mutation_p.Y228*	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	252					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						ACCACATCTACCAGTACCCCT	0.692000													7	28					8.12818e-05	0.000100935	0.001984	1	0
SMURF1	57154	broad.mit.edu	37	7	98638175	98638175	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:98638175T>C	ENST00000361125.1	-	14	1773	c.1454A>G	c.(1453-1455)cAc>cGc	p.H485R	SMURF1_ENST00000361368.2_Missense_Mutation_p.H459R|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	485	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			ATAAGACAAGTGGTCCTGTAG	0.547000											OREG0018189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	32					0	0	0.003080	0	0
MUC17	140453	broad.mit.edu	37	7	100683269	100683269	+	Missense_Mutation	SNP	G	G	T	rs116365680	byFrequency	TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:100683269G>T	ENST00000306151.4	+	3	8636	c.8572G>T	c.(8572-8574)Gtc>Ttc	p.V2858F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2858	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGAAGGTATCGTCGTGCCAAT	0.498000													61	272					1.07751e-37	2.47588e-37	0.003610	1	0
ACPP	55	broad.mit.edu	37	3	132036383	132036383	+	Missense_Mutation	SNP	G	G	T	rs143202571		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:132036383G>T	ENST00000336375.5	+	1	173	c.83G>T	c.(82-84)cGa>cTa	p.R28L	ACPP_ENST00000351273.7_Missense_Mutation_p.R28L|ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000475741.1_Missense_Mutation_p.R28L	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	28						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TGGCTAGACCGAAGTGTACTA	0.468000													9	36					1.12685e-05	1.49636e-05	0.004482	1	0
SULF2	55959	broad.mit.edu	37	20	46365616	46365616	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:46365616G>T	ENST00000359930.4	-	3	1097	c.246C>A	c.(244-246)ttC>ttA	p.F82L	SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000361612.4_Missense_Mutation_p.F82L|SULF2_ENST00000484875.1_Missense_Mutation_p.F82L|SULF2_ENST00000467815.1_Missense_Mutation_p.F82L	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	82					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GTGTGGTCACGAAGGCGTTGA	0.582000													9	30					1.12685e-05	1.49636e-05	0.004482	1	0
POTEA	340441	broad.mit.edu	37	8	43159860	43159860	+	RNA	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:43159860T>C	ENST00000522175.2	+	0	716							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AATTACTTTCTGACTACAAAG	0.299000													20	53					0	0	0.010504	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162559	33162559	+	RNA	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:33162559C>A	ENST00000510327.1	-	0	346																											TGAGCTGGTTCGTACCAAGAC	0.517000													35	34					3.33393e-15	6.6981e-15	0.004878	1	0
SCN11A	11280	broad.mit.edu	37	3	38892224	38892224	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:38892224C>A	ENST00000450244.1	-	25	4273	c.4075G>T	c.(4075-4077)Gtg>Ttg	p.V1359L	SCN11A_ENST00000302328.3_Missense_Mutation_p.V1359L|SCN11A_ENST00000444237.2_Missense_Mutation_p.V1359L|SCN11A_ENST00000456224.3_Missense_Mutation_p.V1321L			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1359					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGTCGAACACGAGACCTTGA	0.308000													32	65					3.99451e-17	8.36097e-17	0.009535	1	0
PLCG2	5336	broad.mit.edu	37	16	81953095	81953095	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:81953095G>A	ENST00000359376.3	+	20	2275	c.2061G>A	c.(2059-2061)agG>agA	p.R687R		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	687	SH2 2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCAGGGCTAGGGGCAAGGTAA	0.512000													11	34					0	0	0.000978	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090215	238090215	+	RNA	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:238090215G>A	ENST00000450451.1	+	0	1721					NR_027247.2																						TGCCCCCCAAGCTGTGTTTCC	0.597000													10	7					0	0	0.006214	0	0
SMPD3	55512	broad.mit.edu	37	16	68404836	68404836	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:68404836C>A	ENST00000219334.5	-	3	1852	c.1249G>T	c.(1249-1251)Gac>Tac	p.D417Y	SMPD3_ENST00000568373.1_Missense_Mutation_p.D417Y|SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000563226.1_Missense_Mutation_p.D417Y	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	417					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TAGGCCACGTCCATGATGGGG	0.592000													5	11					0.00116845	0.00134841	0.001168	1	0
IGHV3-13	28449	broad.mit.edu	37	14	106586415	106586415	+	RNA	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:106586415C>A	ENST00000390602.2	-	0	149																											CCAGACTCCACCAGCTGCACC	0.547000													34	61					1.45844e-13	2.79609e-13	0.002836	1	0
CAMSAP2	23271	broad.mit.edu	37	1	200776625	200776625	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:200776625C>T	ENST00000358823.2	+	3	791	c.521C>T	c.(520-522)cCc>cTc	p.P174L	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.P174L|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.P174L	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	174						cytoplasm|microtubule	protein binding										ACAGATCTGCCCTATGATATT	0.383000													7	111					0	0	0.003080	0	0
GALNS	2588	broad.mit.edu	37	16	88898457	88898457	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:88898457C>T	ENST00000268695.5	-	9	1039	c.951G>A	c.(949-951)ggG>ggA	p.G317G	GALNS_ENST00000542788.1_Silent_p.G242G	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	317						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GCTCCCTCATCCCTCCTTCAA	0.667000													4	26					0	0	0.001168	0	0
PRKG1	5592	broad.mit.edu	37	10	52913086	52913086	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:52913086G>C	ENST00000373980.4	+	2	891	c.474G>C	c.(472-474)atG>atC	p.M158I	PRKG1_ENST00000401604.2_Missense_Mutation_p.M143I|PRKG1_ENST00000373985.1_Missense_Mutation_p.M131I	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	143					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TGTATGTCATGGAAGGTACGG	0.438000													10	42					0	0	0.006214	0	0
GCSAML	148823	broad.mit.edu	37	1	247712411	247712411	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:247712411G>C	ENST00000366490.3	+	4	438	c.280G>C	c.(280-282)Gca>Cca	p.A94P	GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000531662.1_3'UTR|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366488.4_5'UTR					germinal center-associated, signaling and motility-like																		CCTGCCTCATGCATTTTCCTC	0.527000													20	25					0	0	0.007413	0	0
MET	4233	broad.mit.edu	37	7	116403323	116403323	+	Splice_Site	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:116403323G>T	ENST00000397752.3	+	11	2783		c.e11+1		MET_ENST00000318493.6_Splice_Site	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene						axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GGAAATTAAGGTAAGAAATGC	0.318000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				20	48					8.34094e-07	1.18469e-06	0.008871	1	0
GPA33	10223	broad.mit.edu	37	1	167024212	167024212	+	Splice_Site	SNP	C	C	A	rs150875349	by1000genomes	TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:167024212C>A	ENST00000367868.3	-	6	1171		c.e6+1		RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_Splice_Site	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)							integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CAGACACTCACGGCCTTGCAT	0.552000													36	42					1.90571e-15	3.85365e-15	0.004289	1	0
TSHZ1	10194	broad.mit.edu	37	18	72999809	72999809	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:72999809A>T	ENST00000322038.5	+	2	2896	c.2312A>T	c.(2311-2313)aAg>aTg	p.K771M	TSHZ1_ENST00000580243.1_Missense_Mutation_p.K816M	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	816						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACCAAGTCCAAGAACAAGCCG	0.572000													9	50					0	0	0.004482	0	0
KCND2	3751	broad.mit.edu	37	7	119915122	119915122	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:119915122G>T	ENST00000331113.4	+	1	1401	c.436G>T	c.(436-438)Gag>Tag	p.E146*		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	146					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AGAGAACGCCGAGCGCCTGCA	0.607000													31	123					6.38683e-12	1.16816e-11	0.008361	1	0
LRCH3	84859	broad.mit.edu	37	3	197562618	197562618	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:197562618G>T	ENST00000438796.2	+	9	1220	c.1176G>T	c.(1174-1176)caG>caT	p.Q392H	LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000334859.4_Missense_Mutation_p.Q392H|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000425562.2_Missense_Mutation_p.Q392H|LRCH3_ENST00000414675.2_Intron			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	392						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AGGTGAGACAGCCCAAGGGAC	0.498000													12	37					1.61879e-10	2.8053e-10	0.001368	1	0
MCPH1	79648	broad.mit.edu	37	8	6289086	6289086	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:6289086A>T	ENST00000344683.5	+	4	376	c.300A>T	c.(298-300)ttA>ttT	p.L100F	MCPH1_ENST00000519480.1_Missense_Mutation_p.L100F|MCPH1_ENST00000522905.1_Missense_Mutation_p.L100F	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	100						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		ATGAACACTTATCAAGCCTAA	0.284000													26	80					0	0	0.003954	0	0
NOBOX	135935	broad.mit.edu	37	7	144098994	144098994	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:144098994G>T	ENST00000467773.1	-	3	259	c.260C>A	c.(259-261)cCc>cAc	p.P87H	NOBOX_ENST00000483238.1_Missense_Mutation_p.P87H|NOBOX_ENST00000223140.5_Intron	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	87					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AGACACCAGGGGTATGAGTTT	0.473000													17	63					2.37509e-13	4.52551e-13	0.010504	1	0
FAM170A	340069	broad.mit.edu	37	5	118970310	118970310	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:118970310G>A	ENST00000515256.1	+	3	1039	c.867G>A	c.(865-867)gaG>gaA	p.E289E				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	289	Glu-rich.					intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						atgagaaggaggaggaagaga	0.537000													26	112					0	0	0.003954	0	0
DNMT3B	1789	broad.mit.edu	37	20	31376784	31376784	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:31376784G>C	ENST00000328111.2	+	7	1100	c.779G>C	c.(778-780)tGg>tCg	p.W260S	DNMT3B_ENST00000348286.2_Missense_Mutation_p.W260S|DNMT3B_ENST00000353855.2_Missense_Mutation_p.W260S|DNMT3B_ENST00000344505.4_Missense_Mutation_p.W260S|DNMT3B_ENST00000201963.3_Missense_Mutation_p.W272S|DNMT3B_ENST00000456297.2_Missense_Mutation_p.W184S|DNMT3B_ENST00000443239.3_Missense_Mutation_p.W218S|DNMT3B_ENST00000375623.4_Missense_Mutation_p.W218S	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	260	Interaction with DNMT1 and DNMT3A.|PWWP.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCATGCGGTGGGTCCAGTGG	0.622000													3	28					0	0	0.009096	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43630541	43630541	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:43630541G>A	ENST00000332857.6	-	1	189	c.161C>T	c.(160-162)cCa>cTa	p.P54L		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TGGTGAGGGTGGGTCATCACA	0.473000													20	59					0	0	0.001882	0	0
KITLG	4254	broad.mit.edu	37	12	88912495	88912495	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:88912495G>C	ENST00000347404.5	-	4	914	c.342C>G	c.(340-342)tgC>tgG	p.C114W	KITLG_ENST00000357116.4_Intron|KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000228280.5_Missense_Mutation_p.C114W	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	114					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TTTCTTTCACGCACTCCACAA	0.368000									Testicular Cancer, Familial Clustering of				26	105					0	0	0.002096	0	0
CXorf23	256643	broad.mit.edu	37	X	19968954	19968954	+	Silent	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:19968954T>A	ENST00000379687.3	-	7	1695	c.1662A>T	c.(1660-1662)ctA>ctT	p.L554L	CXorf23_ENST00000356980.3_Silent_p.L554L|CXorf23_ENST00000379682.4_Silent_p.L554L	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	554						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TGTCATGTCGTAGGTCATTTG	0.368000													22	55					0	0	0.002780	0	0
DYDC1	143241	broad.mit.edu	37	10	82098193	82098193	+	Silent	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:82098193A>G	ENST00000421924.2	-	6	945	c.534T>C	c.(532-534)acT>acC	p.T178T	DYDC1_ENST00000372202.1_Intron|DYDC1_ENST00000372204.3_Intron			Q8WWB3	DYDC1_HUMAN	DPY30 domain containing 1	0										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			aacaaaaacGAGTTTTTTCAC	0.383000													5	53					0	0	0.000602	0	0
BIRC6	57448	broad.mit.edu	37	2	32664699	32664699	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:32664699A>C	ENST00000421745.2	+	16	3889	c.3755A>C	c.(3754-3756)cAg>cCg	p.Q1252P		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1252					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTAAAACACCAGAGTAACAAG	0.383000													10	43					0	0	0.000978	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718818	142718818	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:142718818T>A	ENST00000381779.4	-	2	332	c.107A>T	c.(106-108)gAg>gTg	p.E36V	SLITRK4_ENST00000338017.4_Missense_Mutation_p.E36V|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E36V	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	36						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCACATTCTCAACTGACAC	0.403000													18	35					0	0	0.010504	0	0
ZIC4	84107	broad.mit.edu	37	3	147113932	147113932	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:147113932C>A	ENST00000383075.3	-	3	907	c.395G>T	c.(394-396)tGg>tTg	p.W132L	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.W132L|ZIC4_ENST00000525172.2_Missense_Mutation_p.W182L|ZIC4_ENST00000473123.1_Missense_Mutation_p.W132L|ZIC4_ENST00000425731.3_Missense_Mutation_p.W170L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	132						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGCCGCCAGCCACTTGCAGAT	0.657000													10	41					1.58986e-06	2.22552e-06	0.008291	1	0
CAMK2N1	55450	broad.mit.edu	37	1	20810160	20810160	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:20810160C>A	ENST00000375078.3	-	2	1059	c.219G>T	c.(217-219)aaG>aaT	p.K73N	CAMK2N1_ENST00000489020.1_5'UTR	NM_018584.5	NP_061054.2	Q7Z7J9	CK2N1_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 1	73						cell junction|postsynaptic density|postsynaptic membrane|synaptosome				lung(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.0013)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.00116)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		CAGGAGGTGCCTTGTCGGTCA	0.463000													24	106					4.87955e-14	9.43664e-14	0.005443	1	0
NLGN4X	57502	broad.mit.edu	37	X	5947446	5947446	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:5947446G>T	ENST00000381095.3	-	3	1127	c.500C>A	c.(499-501)cCc>cAc	p.P167H	NLGN4X_ENST00000381093.2_Missense_Mutation_p.P187H|NLGN4X_ENST00000381092.1_Missense_Mutation_p.P167H|NLGN4X_ENST00000275857.6_Missense_Mutation_p.P167H|NLGN4X_ENST00000538097.1_Missense_Mutation_p.P167H	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	167					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GACCATGACGGGCTTCTTACT	0.423000													15	19					1.3612e-06	1.91755e-06	0.003163	1	0
LRPPRC	10128	broad.mit.edu	37	2	44139605	44139605	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:44139605C>A	ENST00000260665.7	-	30	3298	c.3241G>T	c.(3241-3243)Gat>Tat	p.D1081Y		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1081					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTAAAATAATCTTCTGACATC	0.323000													16	67					2.32078e-09	3.80903e-09	0.003163	1	0
NUDT18	79873	broad.mit.edu	37	8	21964955	21964955	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:21964955C>A	ENST00000309188.6	-	5	946	c.828G>T	c.(826-828)gtG>gtT	p.V276V	NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_Silent_p.V199V	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	276							hydrolase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		TCCGAAAAGCCACGGTCACCA	0.567000													10	44					0.00010058	0.0001246	0.001368	1	0
CST1	1469	broad.mit.edu	37	20	23729728	23729728	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:23729728C>A	ENST00000304749.2	-	2	337	c.267G>T	c.(265-267)gtG>gtT	p.V89V	CST1_ENST00000398402.1_Silent_p.V89V	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	89						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TGGTGCGGCCCACCTCTACGT	0.562000													18	108					3.62473e-10	6.18477e-10	0.001882	1	0
GLIS1	148979	broad.mit.edu	37	1	54060542	54060542	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:54060542A>C	ENST00000312233.2	-	3	600	c.34T>G	c.(34-36)Tgt>Ggt	p.C12G		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	12					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGGCCCCGACAGTGGGCAGAC	0.657000													4	10					0	0	0.001168	0	0
FRMPD2	143162	broad.mit.edu	37	10	49459706	49459706	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:49459706G>T	ENST00000374201.3	-	2	356	c.54C>A	c.(52-54)gcC>gcA	p.A18A	FRMPD2_ENST00000407470.4_Silent_p.A9A|FRMPD2_ENST00000305531.3_Silent_p.A16A	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	18	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GTAGGGCGCTGGCCAGCGTCA	0.592000													12	26					2.80697e-09	4.57313e-09	0.000978	1	0
KIAA1109	84162	broad.mit.edu	37	4	123187949	123187949	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:123187949G>T	ENST00000264501.4	+	46	7702	c.7329G>T	c.(7327-7329)aaG>aaT	p.K2443N	KIAA1109_ENST00000455637.1_Missense_Mutation_p.K2443N|KIAA1109_ENST00000388738.3_Missense_Mutation_p.K2443N			Q2LD37	K1109_HUMAN	KIAA1109	2443					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTGTTTTCAAGCCTCTTCTGA	0.368000													44	105					2.37825e-27	5.37706e-27	0.002522	1	0
ZNF536	9745	broad.mit.edu	37	19	30935737	30935737	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:30935737A>T	ENST00000355537.3	+	2	1415	c.1268A>T	c.(1267-1269)cAc>cTc	p.H423L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAGGAGGCCCACGCCAACCTG	0.632000													10	43					0	0	0.000978	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22362973	22362973	+	RNA	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:22362973G>C	ENST00000390438.2	+	0	232																											GTCTCTGAAGGAGCCCTGGTT	0.532000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	63					0	0	0.004007	0	0
LMO7	4008	broad.mit.edu	37	13	76382292	76382292	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:76382292G>C	ENST00000357063.3	+	11	3289	c.2029G>C	c.(2029-2031)Gag>Cag	p.E677Q	LMO7_ENST00000341547.4_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.E392Q|LMO7_ENST00000321797.8_Missense_Mutation_p.E392Q|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.E677Q			Q8WWI1	LMO7_HUMAN	LIM domain 7	677						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GGCCATCCGGGAGGCCAGCAG	0.512000													8	28					0	0	0.006214	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34118167	34118167	+	Missense_Mutation	SNP	G	G	A	rs11552285		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:34118167G>A	ENST00000341394.4	+	16	2036	c.1847G>A	c.(1846-1848)cGt>cAt	p.R616H	CAPRIN1_ENST00000529307.1_Missense_Mutation_p.R535H|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.R616H|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.R616H|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.R616H|CAPRIN1_ENST00000533657.1_3'UTR	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	616			R -> H (in dbSNP:rs11552285).		negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GGAGGCTCCCGTGGTGCTAGA	0.478000													8	56					0	0	0.006214	0	0
MYPN	84665	broad.mit.edu	37	10	69961730	69961730	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:69961730C>T	ENST00000358913.5	+	18	4126	c.3638C>T	c.(3637-3639)cCt>cTt	p.P1213L	MYPN_ENST00000354393.2_Missense_Mutation_p.P938L|MYPN_ENST00000540630.1_Missense_Mutation_p.P1213L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1213	Ig-like 5.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GAGACCATCCCTTGCACCAGA	0.567000													15	76					0	0	0.002450	0	0
EPAS1	2034	broad.mit.edu	37	2	46574080	46574080	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:46574080A>T	ENST00000263734.3	+	2	605	c.95A>T	c.(94-96)gAg>gTg	p.E32V	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	32	Helix-loop-helix motif.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AAGGAGACGGAGGTGTTCTAT	0.602000													7	38					0	0	0.003080	0	0
UGGT2	55757	broad.mit.edu	37	13	96506611	96506611	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:96506611C>G	ENST00000376747.3	-	35	4197	c.4127G>C	c.(4126-4128)gGa>gCa	p.G1376A		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1376	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TGCCCAGTATCCTGTTTTCCA	0.383000													8	115					0	0	0.003080	0	0
CPS1	1373	broad.mit.edu	37	2	211527868	211527868	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:211527868C>A	ENST00000233072.5	+	33	4145	c.3949C>A	c.(3949-3951)Cgg>Agg	p.R1317R	CPS1_ENST00000451903.2_Silent_p.R866R|CPS1_ENST00000430249.2_Silent_p.R1323R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1317					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTCCTGGCCCCGGTTGAGGGA	0.383000													7	59					0.000157383	0.000191602	0.003080	1	0
CHRDL2	25884	broad.mit.edu	37	11	74421994	74421994	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:74421994C>G	ENST00000376332.3	-	4	828	c.332G>C	c.(331-333)tGc>tCc	p.C111S	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.C111S	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	111	VWFC 2.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GTTGTGCTGGCAGGACTTTGG	0.577000													6	36					0	0	0.001984	0	0
NFE2L2	4780	broad.mit.edu	37	2	178096090	178096090	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:178096090C>T	ENST00000397062.3	-	5	1795	c.1241G>A	c.(1240-1242)aGc>aAc	p.S414N	NFE2L2_ENST00000397063.4_Missense_Mutation_p.S398N|NFE2L2_ENST00000446151.2_Missense_Mutation_p.S391N|NFE2L2_ENST00000464747.1_Missense_Mutation_p.S398N	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	414					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CACGTGAGTGCTCTGCCCCTG	0.468000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			28	109					0	0	0.007291	0	0
CITED2	10370	broad.mit.edu	37	6	139694781	139694781	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:139694781G>A	ENST00000367651.2	-	2	516	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	CITED2_ENST00000537332.1_Missense_Mutation_p.P101S|CITED2_ENST00000536159.1_Missense_Mutation_p.P101S	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	101					adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		GCCACCGGGGGACCCATGAAC	0.657000													6	23					0	0	0.001984	0	0
ATP1A4	480	broad.mit.edu	37	1	160124871	160124871	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:160124871C>A	ENST00000368081.4	+	3	715	c.244C>A	c.(244-246)Cga>Aga	p.R82R		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	82					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AATCCTGACTCGAGGTGGACC	0.512000													46	88					4.0181e-32	9.15136e-32	0.003610	1	0
GHSR	2693	broad.mit.edu	37	3	172166174	172166174	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:172166174C>A	ENST00000241256.2	-	1	72	c.30G>T	c.(28-30)ccG>ccT	p.P10P	GHSR_ENST00000427970.1_Silent_p.P10P	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	10					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GGTTGAACCCCGGCTCTTCGC	0.692000													4	8					0.00909568	0.00995582	0.009096	1	0
BEST1	7439	broad.mit.edu	37	11	61726970	61726970	+	Splice_Site	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:61726970G>A	ENST00000449131.2	+	7	774	c.687_splice	c.e7-1	p.V230_splice	BEST1_ENST00000534553.1_Intron|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000378042.3_Intron|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000378043.4_Splice_Site_p.V290_splice|BEST1_ENST00000526988.1_Splice_Site_p.W251_splice	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	290					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						TGTCCCCAAGGTGGCAGAGCA	0.522000													6	27					0	0	0.001168	0	0
TRIM29	23650	broad.mit.edu	37	11	120008554	120008554	+	Silent	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:120008554T>A	ENST00000341846.5	-	1	607	c.186A>T	c.(184-186)ccA>ccT	p.P62P		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	62					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TACCTTCCCCTGGCTTCAGGG	0.632000													19	138					0	0	0.002299	0	0
AOC2	314	broad.mit.edu	37	17	40997826	40997826	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:40997826G>T	ENST00000253799.3	+	1	1210	c.1183G>T	c.(1183-1185)Gga>Tga	p.G395*	AOC2_ENST00000452774.2_Nonsense_Mutation_p.G395*	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	395					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CTTGGTGCGGGGAGTGGACTG	0.542000													27	44					6.12954e-19	1.30589e-18	0.004656	1	0
THNSL2	55258	broad.mit.edu	37	2	88478421	88478421	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:88478421C>G	ENST00000324166.5	+	4	2382	c.691C>G	c.(691-693)Cag>Gag	p.Q231E	THNSL2_ENST00000449349.1_Missense_Mutation_p.Q199E|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000358591.2_Missense_Mutation_p.Q231E|THNSL2_ENST00000402102.1_Missense_Mutation_p.Q231E|THNSL2_ENST00000377254.3_Missense_Mutation_p.Q231E|THNSL2_ENST00000343544.4_Missense_Mutation_p.Q231E	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	231					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GGTCCTGGTGCAGATGGCCCA	0.552000													56	176					0	0	0.003610	0	0
SNHG14	104472715	broad.mit.edu	37	15	25468467	25468467	+	RNA	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:25468467T>A	ENST00000453082.2	+	0	885				SNORD115-29_ENST00000362834.1_RNA	NR_003343.1																						AGGATTACGCTGAGGCCCAGC	0.517000													61	209					0	0	0.003610	0	0
IL1RN	3557	broad.mit.edu	37	2	113887238	113887238	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:113887238G>T	ENST00000361779.3	+	4	445	c.100G>T	c.(100-102)Gaa>Taa	p.E34*	IL1RN_ENST00000259206.5_Nonsense_Mutation_p.E71*|IL1RN_ENST00000409930.3_Nonsense_Mutation_p.E68*|IL1RN_ENST00000409052.1_Nonsense_Mutation_p.E34*|IL1RN_ENST00000354115.2_Nonsense_Mutation_p.E50*	NM_173843.2	NP_776215.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	68					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	TGTCAATTTAGAAGGTGAGTG	0.483000									Lichen Sclerosis et Atrophicus, Familial Clustering of				24	84					2.21704e-12	4.11318e-12	0.002780	1	0
HAL	3034	broad.mit.edu	37	12	96379715	96379715	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:96379715C>T	ENST00000261208.3	-	14	1545	c.1177G>A	c.(1177-1179)Gat>Aat	p.D393N	HAL_ENST00000541929.1_Missense_Mutation_p.D185N|HAL_ENST00000538703.1_Missense_Mutation_p.D393N	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	393					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GTGTATGCATCCTGGACGCGA	0.418000													8	29					0	0	0.004482	0	0
RTTN	25914	broad.mit.edu	37	18	67776749	67776749	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:67776749C>G	ENST00000255674.6	-	28	4174	c.3888G>C	c.(3886-3888)ttG>ttC	p.L1296F	RTTN_ENST00000437017.1_Missense_Mutation_p.L1296F|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1296							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GGAGACCTGACAAGTACTTCA	0.433000													10	49					0	0	0.008291	0	0
STPG1	90529	broad.mit.edu	37	1	24700206	24700206	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:24700206T>A	ENST00000374409.1	-	6	811	c.557A>T	c.(556-558)aAa>aTa	p.K186I	STPG1_ENST00000440416.1_Missense_Mutation_p.K139I|STPG1_ENST00000003583.8_Missense_Mutation_p.K139I|STPG1_ENST00000337248.4_Missense_Mutation_p.K186I|STPG1_ENST00000468303.1_5'UTR	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1																		GGGAGGTCCTTTATCAGCAAA	0.502000													67	262					0	0	0.003610	0	0
SLC5A8	160728	broad.mit.edu	37	12	101581265	101581265	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:101581265A>G	ENST00000536262.2	-	7	1420	c.862T>C	c.(862-864)Tgg>Cgg	p.W288R		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	288					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGGATTGCCCAGAGTCCCACA	0.448000													9	30					0	0	0.006214	0	0
ZAN	7455	broad.mit.edu	37	7	100364788	100364788	+	RNA	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:100364788C>A	ENST00000542585.1	+	0	4916				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CAACGAGAACCGCGGGGGGAT	0.572000													5	44					0.000602214	0.000709753	0.000602	1	0
MUC16	94025	broad.mit.edu	37	19	9090539	9090539	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:9090539C>A	ENST00000397910.4	-	1	1479	c.1276G>T	c.(1276-1278)Gga>Tga	p.G426*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	426	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTTCCTTTCCACTCGTGGAG	0.512000													18	53					3.32936e-07	4.83505e-07	0.006122	1	0
WDR3	10885	broad.mit.edu	37	1	118477298	118477298	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:118477298G>T	ENST00000349139.4	+	3	421	c.374G>T	c.(373-375)gGg>gTg	p.G125V	WDR3_ENST00000471680.1_3'UTR|WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	125						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CTGGCATCTGGGTCCAAGGTG	0.443000													8	70					5.4927e-09	8.77362e-09	0.004482	1	0
SEZ6L	23544	broad.mit.edu	37	22	26743766	26743766	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr22:26743766G>T	ENST00000529632.2	+	11	2490	c.2294G>T	c.(2293-2295)cGg>cTg	p.R765L	SEZ6L_ENST00000404234.3_Missense_Mutation_p.R765L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.R538L|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000248933.6_Missense_Mutation_p.R765L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.R765L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R765L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.R538L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	765	Sushi 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GAGTTGGTGCGGGGAGCCAGA	0.557000													6	37					8.12818e-05	0.000100935	0.001984	1	0
PIWIL2	55124	broad.mit.edu	37	8	22136965	22136965	+	Silent	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:22136965A>T	ENST00000356766.6	+	2	214	c.66A>T	c.(64-66)gtA>gtT	p.V22V	PIWIL2_ENST00000521356.1_Silent_p.V22V|PIWIL2_ENST00000454009.2_Silent_p.V22V	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	22					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)		GCCAGGCTGTACGGATGCCAG	0.582000													17	57					0	0	0.006122	0	0
WAC	51322	broad.mit.edu	37	10	28884664	28884664	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:28884664G>A	ENST00000375664.3	+	7	1087	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	WAC_ENST00000347934.4_Intron|WAC_ENST00000428935.1_Missense_Mutation_p.E160K|WAC_ENST00000354911.4_Missense_Mutation_p.E205K|WAC_ENST00000375646.1_Intron			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	205	WW.				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AACTAAAGTGGAAGACAAGCA	0.398000													17	61					0	0	0.008871	0	0
GPC2	221914	broad.mit.edu	37	7	99771575	99771575	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:99771575C>A	ENST00000292377.2	-	5	942	c.775G>T	c.(775-777)Ggc>Tgc	p.G259C	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	259						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGGGACAGCCGATGAGACGC	0.652000													37	101					3.33393e-15	6.6981e-15	0.004878	1	0
GYS2	2998	broad.mit.edu	37	12	21713403	21713403	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:21713403C>A	ENST00000261195.2	-	8	1340	c.1086G>T	c.(1084-1086)gtG>gtT	p.V362V		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	362					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AAAACACCATCACTGTGATGT	0.363000													29	130					2.47316e-13	4.70659e-13	0.003271	1	0
DIAPH3	81624	broad.mit.edu	37	13	60384950	60384950	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:60384950C>T	ENST00000400324.4	-	25	3355	c.3135G>A	c.(3133-3135)aaG>aaA	p.K1045K	DIAPH3_ENST00000377908.2_Silent_p.K1034K|DIAPH3_ENST00000400330.1_Silent_p.K1045K|DIAPH3_ENST00000267215.4_Silent_p.K1045K|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Silent_p.K975K|DIAPH3_ENST00000400320.1_Silent_p.K999K	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1045					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AACGCTTTTTCTTTTGTTGGC	0.308000													6	47					0	0	0.001984	0	0
ZNF496	84838	broad.mit.edu	37	1	247464316	247464316	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:247464316C>A	ENST00000294753.4	-	9	1733	c.1269G>T	c.(1267-1269)cgG>cgT	p.R423R	ZNF496_ENST00000366498.2_Silent_p.R459R|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	423					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TCCGCAGATGCCGGATGAAGT	0.637000													6	66					0.000274275	0.000328495	0.004482	1	0
PRELP	5549	broad.mit.edu	37	1	203453035	203453035	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:203453035C>A	ENST00000343110.2	+	2	850	c.723C>A	c.(721-723)ccC>ccA	p.P241P		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	241					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAGGGTCCCCACCGCCATTC	0.542000													48	109					1.91225e-08	2.97781e-08	0.003610	1	0
ZNF382	84911	broad.mit.edu	37	19	37118298	37118298	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:37118298C>A	ENST00000435416.1	+	3	2991	c.1496C>A	c.(1495-1497)gCc>gAc	p.A499D	ZNF382_ENST00000292928.2_Missense_Mutation_p.A500D|ZNF382_ENST00000439428.1_Missense_Mutation_p.A499D|ZNF382_ENST00000423582.1_Missense_Mutation_p.A451D			Q96SR6	ZN382_HUMAN	zinc finger protein 382	500	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGTGGGAAAGCCTTCAGTAGG	0.438000													21	49					4.35082e-09	7.02929e-09	0.010504	1	0
LMTK2	22853	broad.mit.edu	37	7	97823412	97823412	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:97823412G>T	ENST00000297293.5	+	11	3928	c.3635G>T	c.(3634-3636)gGc>gTc	p.G1212V		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1212					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTTAGCAGCGGCGATGACTTC	0.607000													11	28					1.58986e-06	2.22552e-06	0.008291	1	0
FHL5	9457	broad.mit.edu	37	6	97063497	97063497	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:97063497C>A	ENST00000326771.2	+	7	1084	c.704C>A	c.(703-705)gCc>gAc	p.A235D	FHL5_ENST00000541107.1_Missense_Mutation_p.A235D	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	235	LIM zinc-binding 4.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CTCACAGGTGCCAAGTTTATC	0.453000													4	43					1.6384e-10	2.83295e-10	0.001984	1	0
IL22RA2	116379	broad.mit.edu	37	6	137466887	137466887	+	Silent	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:137466887A>T	ENST00000296980.2	-	7	966	c.666T>A	c.(664-666)gcT>gcA	p.A222A	IL22RA2_ENST00000339602.3_3'UTR|IL22RA2_ENST00000349184.4_Silent_p.A190A	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	222	Fibronectin type-III 3.				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		CCGCTCTGTGAGCCCCTTCAT	0.413000													7	27					0	0	0.003080	0	0
PTX4	390667	broad.mit.edu	37	16	1537668	1537668	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:1537668C>G	ENST00000447419.2	-	2	470	c.445G>C	c.(445-447)Gcc>Ccc	p.A149P	PTX4_ENST00000293922.1_Missense_Mutation_p.A144P|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	149						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TCCTGCAGGGCGTCCCTCTGG	0.721000													6	33					0	0	0.003080	0	0
PDE1A	5136	broad.mit.edu	37	2	183066165	183066165	+	Splice_Site	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:183066165C>A	ENST00000435564.1	-	10	1374		c.e10+1		PDE1A_ENST00000358139.2_Splice_Site|PDE1A_ENST00000331935.6_Splice_Site|PDE1A_ENST00000456212.1_Splice_Site|PDE1A_ENST00000346717.4_Splice_Site|PDE1A_ENST00000410103.1_Splice_Site|PDE1A_ENST00000409365.1_Splice_Site|PDE1A_ENST00000536095.1_Splice_Site|PDE1A_ENST00000351439.5_Splice_Site	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent						activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GAAAGAGGCACCTGCAGGAAA	0.478000													30	98					3.73148e-12	6.88991e-12	0.007291	1	0
RILPL1	353116	broad.mit.edu	37	12	123983148	123983148	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:123983148C>T	ENST00000376874.4	-	4	979	c.744G>A	c.(742-744)ggG>ggA	p.G248G	RILPL1_ENST00000340724.6_Silent_p.G96G	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	248					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CTCGCAACTTCCCCAGCTCTG	0.632000													12	60					0	0	0.001368	0	0
KIF26B	55083	broad.mit.edu	37	1	245849618	245849618	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:245849618C>A	ENST00000366518.4	+	9	2294	c.2190C>A	c.(2188-2190)tcC>tcA	p.S730S	KIF26B_ENST00000407071.2_Silent_p.S1111S			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1111	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCAAGGATTCCGGCGTGGCGT	0.617000													6	88					0.000157383	0.000191602	0.003080	1	0
TCL6	27004	broad.mit.edu	37	14	96135912	96135912	+	RNA	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:96135912C>A	ENST00000467865.1	+	0	1846				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		acaagtcatacctacattcaa	0.488000			T	TRA@	T-ALL								8	44					2.17888e-05	2.83272e-05	0.006214	1	0
PTPN22	26191	broad.mit.edu	37	1	114397554	114397554	+	Missense_Mutation	SNP	T	T	A	rs138719022		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:114397554T>A	ENST00000359785.5	-	8	793	c.658A>T	c.(658-660)Agt>Tgt	p.S220C	PTPN22_ENST00000538253.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.S220C|PTPN22_ENST00000525799.1_Intron|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.S220C	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	220	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGGGAACACTGTCATCCTCT	0.413000													23	92					0	0	0.002299	0	0
LGR5	8549	broad.mit.edu	37	12	71977998	71977998	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:71977998C>T	ENST00000266674.5	+	18	2519	c.2208C>T	c.(2206-2208)tgC>tgT	p.C736C	LGR5_ENST00000540815.2_Silent_p.C712C|LGR5_ENST00000536515.1_Silent_p.C664C			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	736						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ATTCCCTTTGCTTCCTCATGA	0.522000													20	100					0	0	0.008871	0	0
ABCF1	23	broad.mit.edu	37	6	30558147	30558147	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:30558147A>G	ENST00000326195.8	+	24	2475	c.2363A>G	c.(2362-2364)tAc>tGc	p.Y788C	ABCF1_ENST00000396515.4_Missense_Mutation_p.Y181C|ABCF1_ENST00000376545.3_Missense_Mutation_p.Y750C	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	788	ABC transporter 2.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						ATCAATGAATACAAGGGTGGT	0.502000													22	110					0	0	0.001882	0	0
COL5A2	1290	broad.mit.edu	37	2	189931188	189931188	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:189931188G>A	ENST00000374866.3	-	23	1765	c.1491C>T	c.(1489-1491)ccC>ccT	p.P497P		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	497					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)			CTTCTTCACCGGGTGGGCCTA	0.483000													48	225					0	0	0.003610	0	0
NLRC3	197358	broad.mit.edu	37	16	3614926	3614926	+	RNA	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:3614926G>T	ENST00000301749.7	-	0	517				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGGAGCCTTGACTGCCCTTC	0.711000													4	21					0.00024832	0.000300425	0.009096	1	0
OR6B2	389090	broad.mit.edu	37	2	240969757	240969757	+	Silent	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:240969757G>C	ENST00000402971.2	-	1	149	c.90C>G	c.(88-90)ctC>ctG	p.L30L		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGAGCAGGAAGAGGAGGAAGA	0.587000													5	55					0	0	0.000602	0	0
TNRC6A	27327	broad.mit.edu	37	16	24801439	24801439	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:24801439G>T	ENST00000395799.3	+	6	1605	c.1476G>T	c.(1474-1476)caG>caT	p.Q492H	TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q492H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	492	Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATCATCCTCAGATGCAGGCTC	0.478000													13	61					4.36969e-10	7.41509e-10	0.001855	1	0
CCDC89	220388	broad.mit.edu	37	11	85396449	85396449	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:85396449T>A	ENST00000316398.3	-	1	871	c.725A>T	c.(724-726)cAg>cTg	p.Q242L		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	242						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTCCACAGCCTGCTGGTGCTG	0.607000													15	48					0	0	0.002450	0	0
PDE1C	5137	broad.mit.edu	37	7	31876812	31876812	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:31876812C>T	ENST00000396184.3	-	12	1389	c.1185G>A	c.(1183-1185)ctG>ctA	p.L395L	PDE1C_ENST00000321453.7_Silent_p.L395L|PDE1C_ENST00000396182.2_Silent_p.L395L|PDE1C_ENST00000396191.1_Silent_p.L395L|PDE1C_ENST00000396193.1_Silent_p.L455L	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	395	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGAACTCCTCCAGGAGTGACA	0.433000													25	47					0	0	0.007291	0	0
LDOC1L	84247	broad.mit.edu	37	22	44893104	44893104	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr22:44893104C>A	ENST00000341255.3	-	2	842	c.333G>T	c.(331-333)cgG>cgT	p.R111R		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	111										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		ACCCCGCCAACCGGCCTGGGT	0.607000													8	30					0.00307968	0.00346883	0.003080	1	0
SERPINB4	6318	broad.mit.edu	37	18	61306952	61306952	+	Silent	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:61306952A>T	ENST00000341074.5	-	6	643	c.528T>A	c.(526-528)ctT>ctA	p.L176L	SERPINB4_ENST00000356424.6_Silent_p.L176L	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TTGCGTTCACAAGAACCAGTG	0.328000													8	77					0	0	0.003080	0	0
RTN1	6252	broad.mit.edu	37	14	60212455	60212455	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:60212455C>A	ENST00000267484.5	-	2	1321	c.986G>T	c.(985-987)gGa>gTa	p.G329V		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	329					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGTGATAGATCCTGGGCTGTC	0.468000													19	92					1.33834e-09	2.22244e-09	0.007413	1	0
INPPL1	3636	broad.mit.edu	37	11	71942060	71942060	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:71942060G>T	ENST00000541756.1	+	12	1528	c.598G>T	c.(598-600)Gtg>Ttg	p.V200L	INPPL1_ENST00000538751.1_Missense_Mutation_p.V200L|INPPL1_ENST00000298229.2_Missense_Mutation_p.V442L			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	442					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCCAAAAAACGTGACATCCTG	0.587000													48	105					1.21353e-23	2.69655e-23	0.003610	1	0
IL18RAP	8807	broad.mit.edu	37	2	103040430	103040430	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:103040430A>T	ENST00000264260.2	+	4	819	c.230A>T	c.(229-231)aAc>aTc	p.N77I	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	77					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ATGGGTAGTAACGACCTATCT	0.433000													14	45					0	0	0.001855	0	0
MDN1	23195	broad.mit.edu	37	6	90453325	90453325	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:90453325C>T	ENST00000369393.3	-	30	4402	c.4287G>A	c.(4285-4287)ctG>ctA	p.L1429L	MDN1_ENST00000428876.1_Silent_p.L1429L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1429					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCACTGGCCGCAGGCCACCCA	0.458000													17	83					0	0	0.004990	0	0
IGLV6-57	28778	broad.mit.edu	37	22	22550512	22550512	+	RNA	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr22:22550512C>A	ENST00000390285.2	+	0	275																											CGGGCAGTTCCCCCACCACTG	0.602000													7	18					2.0095e-06	2.78777e-06	0.001984	1	0
OR2B11	127623	broad.mit.edu	37	1	247614961	247614961	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:247614961G>T	ENST00000318749.6	-	1	347	c.324C>A	c.(322-324)ttC>ttA	p.F108L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCAGCCAGTGGAAGACTGCAT	0.592000													22	57					9.86323e-18	2.07288e-17	0.003954	1	0
ABI3BP	25890	broad.mit.edu	37	3	100484767	100484767	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:100484767C>T	ENST00000471714.1	-	62	4850	c.4741G>A	c.(4741-4743)Ggg>Agg	p.G1581R	ABI3BP_ENST00000284322.5_Missense_Mutation_p.G879R|ABI3BP_ENST00000383691.4_Missense_Mutation_p.G833R			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	879						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTGAATGACCCATTTTCTCTG	0.378000													10	27					0	0	0.001368	0	0
P2RX1	5023	broad.mit.edu	37	17	3807293	3807293	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:3807293G>T	ENST00000225538.3	-	5	727	c.453C>A	c.(451-453)gcC>gcA	p.A151A		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	151					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		TGTCGTTGAAGGCCACACACT	0.607000													10	17					3.86212e-05	4.92206e-05	0.008291	1	0
GAB3	139716	broad.mit.edu	37	X	153940880	153940880	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:153940880G>A	ENST00000369575.3	-	4	721	c.690C>T	c.(688-690)ccC>ccT	p.P230P	GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Silent_p.P231P	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	230										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AATGACTGGAGGGGAGCGGCT	0.537000													11	20					0	0	0.008291	0	0
CBX8	57332	broad.mit.edu	37	17	77768624	77768624	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:77768624T>C	ENST00000269385.4	-	5	1097	c.980A>G	c.(979-981)cAg>cGg	p.Q327R		NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	327					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCTTCCCCCCTGGGCCCCCAT	0.687000													14	27					0	0	0.002450	0	0
GABRB2	2561	broad.mit.edu	37	5	160972276	160972276	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:160972276T>C	ENST00000274547.2	-	4	411	c.194A>G	c.(193-195)aAc>aGc	p.N65S	GABRB2_ENST00000353437.6_Missense_Mutation_p.N65S|GABRB2_ENST00000393959.1_Missense_Mutation_p.N65S|GABRB2_ENST00000520240.1_Missense_Mutation_p.N65S|GABRB2_ENST00000517547.1_5'UTR|GABRB2_ENST00000517901.1_Missense_Mutation_p.N2S	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	65					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AATGTCAATGTTCATCCCCAC	0.453000													4	19					0	0	0.009096	0	0
SMG7	9887	broad.mit.edu	37	1	183510146	183510146	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:183510146G>T	ENST00000367537.3	+	14	1605	c.1410G>T	c.(1408-1410)caG>caT	p.Q470H	SMG7_ENST00000507469.1_Missense_Mutation_p.Q441H|SMG7_ENST00000347615.2_Missense_Mutation_p.Q441H|SMG7_ENST00000515829.2_Missense_Mutation_p.Q441H|SMG7_ENST00000456731.2_Missense_Mutation_p.Q399H|SMG7_ENST00000508461.1_Missense_Mutation_p.Q399H			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	441					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AAGGTCACCAGGGTATTACAG	0.408000													60	102					4.96213e-28	1.12354e-27	0.003610	1	0
FGD6	55785	broad.mit.edu	37	12	95604073	95604073	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:95604073C>A	ENST00000343958.4	-	2	1210	c.987G>T	c.(985-987)aaG>aaT	p.K329N	FGD6_ENST00000546711.1_Missense_Mutation_p.K329N|FGD6_ENST00000549499.1_Missense_Mutation_p.K329N	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	329					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TATCTACACACTTTTGGCGTA	0.408000													36	135					3.38236e-24	7.53741e-24	0.006999	1	0
MAATS1	89876	broad.mit.edu	37	3	119428706	119428706	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:119428706A>T	ENST00000273390.5	+	5	541	c.464A>T	c.(463-465)cAg>cTg	p.Q155L	MAATS1_ENST00000463700.1_Missense_Mutation_p.Q155L	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		CCATTTTTTCAGCAGATGCCA	0.343000													14	87					0	0	0.004007	0	0
GPALPP1	55425	broad.mit.edu	37	13	45594511	45594511	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:45594511A>G	ENST00000361121.2	+	7	787	c.752A>G	c.(751-753)cAt>cGt	p.H251R	KIAA1704_ENST00000357537.3_Missense_Mutation_p.H81R|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_Missense_Mutation_p.H251R			Q8IXQ4	K1704_HUMAN		251										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		GATGAAGAACATATATTATCA	0.358000													19	65					0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179432723	179432723	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:179432723G>T	ENST00000589042.1	-	326	78360	c.78136C>A	c.(78136-78138)Cat>Aat	p.H26046N	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H17173N|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H24405N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H16981N|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H17106N|TTN_ENST00000342992.6_Missense_Mutation_p.H23478N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24405	Ig-like 126.						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)			TGGGTGTCATGAATAATAGTT	0.388000													20	87					5.35267e-07	7.70129e-07	0.007413	1	0
SRGAP1	57522	broad.mit.edu	37	12	64377777	64377777	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:64377777G>T	ENST00000355086.3	+	2	642	c.118G>T	c.(118-120)Gag>Tag	p.E40*	SRGAP1_ENST00000357825.3_Nonsense_Mutation_p.E40*|SRGAP1_ENST00000543397.1_5'UTR	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	40	FCH.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GCAGCAAACGGAGATGCGAGT	0.413000													21	99					1.96895e-08	3.05996e-08	0.002780	1	0
ROBO2	6092	broad.mit.edu	37	3	77607164	77607164	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:77607164C>G	ENST00000461745.1	+	9	2201	c.1301C>G	c.(1300-1302)aCa>aGa	p.T434R	ROBO2_ENST00000332191.8_Missense_Mutation_p.T434R|ROBO2_ENST00000487694.3_Missense_Mutation_p.T450R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	434	Ig-like C2-type 5.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTGGATGGTACAGCGTTACTG	0.423000													33	52					0	0	0.002096	0	0
MICU3	286097	broad.mit.edu	37	8	16942756	16942756	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:16942756G>T	ENST00000318063.5	+	6	748	c.706G>T	c.(706-708)Ggg>Tgg	p.G236W		NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3																		GCCACATGCAGGGTTCAGAAT	0.338000													19	66					2.70639e-06	3.7279e-06	0.002299	1	0
PDHA2	5161	broad.mit.edu	37	4	96761505	96761505	+	Silent	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:96761505T>A	ENST00000295266.4	+	1	267	c.204T>A	c.(202-204)acT>acA	p.T68T		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	68					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TGATGCTGACTGTTCGCCGCA	0.488000													13	51					0	0	0.001368	0	0
APCS	325	broad.mit.edu	37	1	159558246	159558246	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:159558246G>T	ENST00000255040.2	+	2	517	c.420G>T	c.(418-420)caG>caT	p.Q140H		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	140	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GTCTGCGACAGGGTTACTTTG	0.512000													9	71					0.000274275	0.000328495	0.004482	1	0
SYNPO2	171024	broad.mit.edu	37	4	119952205	119952205	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:119952205G>C	ENST00000307142.4	+	4	2471	c.2275G>C	c.(2275-2277)Gtt>Ctt	p.V759L	SYNPO2_ENST00000429713.2_Missense_Mutation_p.V759L|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.V759L	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	759	Pro-rich.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCCTCCTCCTGTTGCTCCAAA	0.547000													30	64					0	0	0.008361	0	0
HCCAT5	283902	broad.mit.edu	37	16	73126811	73126811	+	RNA	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:73126811C>A	ENST00000569990.2	+	0	564					NR_027756.1																						CCTGTTTTCCCAGCCACCCAT	0.517000													7	46					8.12818e-05	0.000100935	0.001984	1	0
IL18R1	8809	broad.mit.edu	37	2	102984394	102984394	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:102984394G>T	ENST00000409599.1	+	4	524	c.168G>T	c.(166-168)tgG>tgT	p.W56C	IL18R1_ENST00000334376.3_Missense_Mutation_p.W56C|IL18R1_ENST00000233957.1_Missense_Mutation_p.W56C			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	56	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	p.W56C(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CCAAAAGCTGGTACAAAAGCA	0.453000													9	57					0.000442599	0.000525629	0.006214	1	0
PDHA2	5161	broad.mit.edu	37	4	96761674	96761674	+	Silent	SNP	C	C	A	rs143680144		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:96761674C>A	ENST00000295266.4	+	1	436	c.373C>A	c.(373-375)Cgg>Agg	p.R125R		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	125					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GTGCTATACTCGGGGACTTTC	0.512000													24	62					2.44723e-14	4.76243e-14	0.004656	1	0
OR6F1	343169	broad.mit.edu	37	1	247875451	247875451	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:247875451C>A	ENST00000302084.2	-	1	654	c.607G>T	c.(607-609)Gct>Tct	p.A203S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACCACAACAGCAATCACAAAG	0.542000													48	67					1.23103e-26	2.77518e-26	0.003214	1	0
PALD1	27143	broad.mit.edu	37	10	72285843	72285843	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:72285843A>T	ENST00000263563.6	+	2	404	c.136A>T	c.(136-138)Agc>Tgc	p.S46C		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CTTGCATAACAGCAAGGCCAA	0.607000													8	33					0	0	0.006214	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117784608	117784608	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:117784608C>A	ENST00000528626.1	-	4	661	c.588G>T	c.(586-588)tgG>tgT	p.W196C	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.W231C|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.W231C|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.W231C|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.W231C	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	226	SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GAGACTTGTCCCAGTCAAACC	0.522000													7	45					1.06961e-07	1.59363e-07	0.003080	1	0
TCEA1	6917	broad.mit.edu	37	8	54896923	54896923	+	Splice_Site	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:54896923C>T	ENST00000521604.2	-	7	1081	c.678_splice	c.e7+1	p.E226_splice	TCEA1_ENST00000522635.1_Intron|TCEA1_ENST00000396401.3_Splice_Site_p.E205_splice|TCEA1_ENST00000521086.2_5'UTR	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	226	TFIIS central.				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			ACATACTCACCTCTGCTGTCA	0.328000			T	PLAG1	salivary adenoma								6	19					0	0	0.001168	0	0
ADCY7	113	broad.mit.edu	37	16	50324449	50324449	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:50324449G>C	ENST00000394697.2	+	3	593	c.253G>C	c.(253-255)Gtc>Ctc	p.V85L	ADCY7_ENST00000538642.1_Missense_Mutation_p.V85L|ADCY7_ENST00000537579.1_Missense_Mutation_p.V85L|ADCY7_ENST00000566433.2_Missense_Mutation_p.V85L|ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000254235.3_Missense_Mutation_p.V85L			P51828	ADCY7_HUMAN	adenylate cyclase 7	85					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GCTGATGTACGTCGAGTGTCT	0.637000													6	38					0	0	0.001168	0	0
TRPM3	80036	broad.mit.edu	37	9	73150950	73150950	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:73150950C>T	ENST00000377110.2	-	25	5286	c.5043G>A	c.(5041-5043)ccG>ccA	p.P1681P	TRPM3_ENST00000360823.2_Silent_p.P1543P|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000408909.2_Silent_p.P1540P|TRPM3_ENST00000377106.1_Silent_p.P1553P|TRPM3_ENST00000396292.4_Silent_p.P1553P|TRPM3_ENST00000423814.3_Silent_p.P1708P|TRPM3_ENST00000358082.3_Silent_p.P1543P|TRPM3_ENST00000377105.1_Silent_p.P1540P|TRPM3_ENST00000396285.1_Silent_p.P1540P|TRPM3_ENST00000357533.2_Silent_p.P1685P|TRPM3_ENST00000396280.5_Silent_p.P1530P	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1706						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTCGGCCCTCCGGCTTGGAGG	0.532000													26	150					0	0	0.003954	0	0
KHDC3L	154288	broad.mit.edu	37	6	74072904	74072904	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:74072904G>T	ENST00000370367.3	+	2	309	c.256G>T	c.(256-258)Gag>Tag	p.E86*		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member																		CGGCGAGGCTGAGATCTTGGT	0.567000													15	98					2.31682e-05	2.99949e-05	0.003163	1	0
MIR517A	574479	broad.mit.edu	37	19	54215586	54215586	+	RNA	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:54215586C>G	ENST00000385001.1	+	0	65					NR_030201.1																						TCGTGCATCCCTTTAGAGTGT	0.443000													21	34					0	0	0.001882	0	0
NPEPL1	79716	broad.mit.edu	37	20	57287583	57287583	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:57287583G>T	ENST00000356091.6	+	8	1237	c.949G>T	c.(949-951)Gtg>Ttg	p.V317L	NPEPL1_ENST00000525817.1_Missense_Mutation_p.V269L|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Missense_Mutation_p.V289L	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	317					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			TGAGAACTCGGTGGGGCCCAA	0.577000													12	55					6.81908e-15	1.35595e-14	0.002450	1	0
EVC2	132884	broad.mit.edu	37	4	5642298	5642298	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:5642298C>G	ENST00000310917.2	-	10	1904	c.1173G>C	c.(1171-1173)caG>caC	p.Q391H	EVC2_ENST00000344938.1_Missense_Mutation_p.Q471H|EVC2_ENST00000344408.5_Missense_Mutation_p.Q471H	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	471						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCATCTCTCTCTGGTACTGGT	0.468000													105	223					0	0	0.003610	0	0
OR5K3	403277	broad.mit.edu	37	3	98109938	98109938	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:98109938G>T	ENST00000383695.1	+	1	429	c.429G>T	c.(427-429)caG>caT	p.Q143H	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TCTGCATTCAGATGACTGCAG	0.478000													45	113					2.13384e-23	4.73474e-23	0.003610	1	0
DSP	1832	broad.mit.edu	37	6	7575650	7575650	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:7575650G>A	ENST00000379802.3	+	18	2900	c.2559G>A	c.(2557-2559)ttG>ttA	p.L853L	DSP_ENST00000418664.2_Silent_p.L853L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	853	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCTGGACTTGGGCAAGTTCG	0.493000													32	162					0	0	0.002836	0	0
CCDC144A	9720	broad.mit.edu	37	17	16664737	16664737	+	Splice_Site	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:16664737A>T	ENST00000443444.2	+	13	3512		c.e13-1		RP11-219A15.1_ENST00000448331.3_Splice_Site|CCDC144A_ENST00000360524.8_Splice_Site|CCDC144A_ENST00000399273.1_Splice_Site|CCDC144A_ENST00000456009.1_Splice_Site			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A																		TTACTCATGCAGATTGACCTT	0.328000													6	8					0	0	0.004482	0	0
MGAM	8972	broad.mit.edu	37	7	141730553	141730553	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:141730553G>T	ENST00000475668.2	+	12	1520	c.1466G>T	c.(1465-1467)gGg>gTg	p.G489V	MGAM_ENST00000549489.2_Missense_Mutation_p.G489V			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	489	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCACTCATTGGGGAGGTAACT	0.473000													8	72					0.000157383	0.000191602	0.003080	1	0
DCT	1638	broad.mit.edu	37	13	95121132	95121132	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:95121132C>A	ENST00000377028.5	-	2	876	c.463G>T	c.(463-465)Gac>Tac	p.D155Y	DCT_ENST00000446125.1_Missense_Mutation_p.D155Y	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	155					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	p.D155N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		ATCACGTAGTCGGGGTGTACT	0.522000													78	181					6.11987e-43	1.41249e-42	0.003610	1	0
PGM2	55276	broad.mit.edu	37	4	37831647	37831647	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:37831647G>A	ENST00000381967.4	+	2	243	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	PGM2_ENST00000544359.1_5'UTR|PGM2_ENST00000537241.1_5'UTR	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	48					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GAAGAACTACGAAAATGTTTT	0.433000													14	60					0	0	0.003163	0	0
CEBPE	1053	broad.mit.edu	37	14	23588231	23588231	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:23588231G>T	ENST00000206513.5	-	1	594	c.70C>A	c.(70-72)Cga>Aga	p.R24R		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	24						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		GGCCCAGCTCGGCCCCCTGAG	0.682000													3	23					0.004672	0.00520192	0.004672	1	0
SH3TC2	79628	broad.mit.edu	37	5	148421079	148421079	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:148421079C>A	ENST00000515425.1	-	6	732	c.631G>T	c.(631-633)Gca>Tca	p.A211S	SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000394358.2_Missense_Mutation_p.A96S|SH3TC2_ENST00000512049.1_Missense_Mutation_p.A204S	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	211							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCTTCTGCCATCTTCACT	0.562000													11	42					2.27111e-07	3.32311e-07	0.001368	1	0
GNB2	2783	broad.mit.edu	37	7	100275138	100275138	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:100275138G>A	ENST00000303210.4	+	6	767	c.285G>A	c.(283-285)ctG>ctA	p.L95L	GNB2_ENST00000436220.1_Silent_p.L51L|GNB2_ENST00000393926.1_Silent_p.L95L|GNB2_ENST00000424361.1_Silent_p.L51L|GNB2_ENST00000393924.1_Silent_p.L95L|GNB2_ENST00000419828.1_5'UTR|GNB2_ENST00000427895.1_5'UTR	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	95					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CCATCCCGCTGCGCTCCTCCT	0.687000													25	48					0	0	0.004656	0	0
OR6C74	254783	broad.mit.edu	37	12	55641297	55641297	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:55641297A>G	ENST00000343870.4	+	1	316	c.226A>G	c.(226-228)Att>Gtt	p.I76V		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						AACTGTCTACATTCCCAAATT	0.403000													54	214					0	0	0.003610	0	0
PCBP3	54039	broad.mit.edu	37	21	47337540	47337540	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr21:47337540G>A	ENST00000400314.1	+	11	1052	c.714G>A	c.(712-714)ccG>ccA	p.P238P	PCBP3_ENST00000400309.1_Silent_p.P238P|PCBP3_ENST00000400304.1_Silent_p.P229P|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400308.1_Silent_p.P213P|PCBP3_ENST00000400310.1_Silent_p.P238P|PCBP3_ENST00000449640.1_Silent_p.P238P			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	238					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TCCCTCACCCGGATGTGAGTC	0.507000													30	42					0	0	0.002096	0	0
PSG2	5670	broad.mit.edu	37	19	43586679	43586679	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:43586679A>G	ENST00000406487.1	-	1	141	c.43T>C	c.(43-45)Tgg>Cgg	p.W15R	PSG2_ENST00000491995.1_5'UTR	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	15					cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				AGCCCCTTCCATTTGATGTGC	0.577000													30	133					0	0	0.009535	0	0
RP1	6101	broad.mit.edu	37	8	55534092	55534092	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:55534092A>T	ENST00000220676.1	+	2	714	c.566A>T	c.(565-567)gAg>gTg	p.E189V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	189	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CACCTGACAGAGGTCATGCAG	0.592000													22	114					0	0	0.002299	0	0
KCNH7	90134	broad.mit.edu	37	2	163228537	163228537	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:163228537A>T	ENST00000332142.5	-	16	3492	c.3393T>A	c.(3391-3393)caT>caA	p.H1131Q		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1131					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CTGTGTTCAGATGCACCCCAC	0.363000													18	52					0	0	0.004990	0	0
CSPG4	1464	broad.mit.edu	37	15	75981537	75981537	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:75981537G>A	ENST00000308508.5	-	3	1961	c.1869C>T	c.(1867-1869)gcC>gcT	p.A623A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	623	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (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						CTAGGCTGCCGGCCTCCAACT	0.687000													4	18					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179650457	179650457	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:179650457T>C	ENST00000589042.1	-	15	2607	c.2383A>G	c.(2383-2385)Aca>Gca	p.T795A	TTN_ENST00000342175.6_Missense_Mutation_p.T749A|TTN_ENST00000591111.1_Missense_Mutation_p.T795A|TTN_ENST00000460472.2_Missense_Mutation_p.T749A|TTN_ENST00000360870.5_Missense_Mutation_p.T795A|TTN_ENST00000359218.5_Missense_Mutation_p.T749A|TTN_ENST00000342992.6_Missense_Mutation_p.T795A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	795							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)			GTTAGATCTGTAGTTTTCTTG	0.413000													14	65					0	0	0.001855	0	0
CYP27C1	339761	broad.mit.edu	37	2	127950841	127950841	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:127950841C>A	ENST00000335247.7	-	7	961	c.831G>T	c.(829-831)tcG>tcT	p.S277S	CYP27C1_ENST00000409327.1_Silent_p.S277S	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	277						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CATCCTGGTACGATGTGGCAT	0.552000													10	64					0.000978159	0.00113984	0.000978	1	0
TLR1	7096	broad.mit.edu	37	4	38799443	38799443	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:38799443C>T	ENST00000308979.2	-	4	1283	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	TLR1_ENST00000502213.2_Missense_Mutation_p.R337H	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	337					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GTGGACCATGCGTGTACCAGA	0.393000													34	54					0	0	0.003755	0	0
SLC43A3	29015	broad.mit.edu	37	11	57175307	57175307	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:57175307C>A	ENST00000395123.2	-	14	1738	c.1434G>T	c.(1432-1434)cgG>cgT	p.R478R	SLC43A3_ENST00000395124.1_Silent_p.R478R|SLC43A3_ENST00000533524.1_Silent_p.R491R|SLC43A3_ENST00000529554.1_Silent_p.R478R|RP11-872D17.8_ENST00000529411.1_Intron|SLC43A3_ENST00000352187.1_Silent_p.R478R	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	478					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TACGGCATTCCCGATATACCA	0.468000													6	24					1.76689e-08	2.75422e-08	0.006214	1	0
ZNF214	7761	broad.mit.edu	37	11	7021684	7021684	+	Silent	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:7021684T>C	ENST00000278314.4	-	3	1545	c.1230A>G	c.(1228-1230)ggA>ggG	p.G410G	ZNF214_ENST00000536068.1_Silent_p.G410G	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		AAGACTTCTCTCCTGTGTGTA	0.403000													19	77					0	0	0.008871	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820269	50820269	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:50820269G>T	ENST00000374115.3	+	1	1923	c.1483G>T	c.(1483-1485)Gat>Tat	p.D495Y	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	495					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.D495Y(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						AGGTCTGTACGATGCGGTGCG	0.647000													8	53					0.000157383	0.000191602	0.003080	1	0
LPHN3	23284	broad.mit.edu	37	4	62778441	62778441	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:62778441A>G	ENST00000512091.1	+	12	2621	c.1874A>G	c.(1873-1875)cAg>cGg	p.Q625R	LPHN3_ENST00000507164.1_Missense_Mutation_p.Q693R|LPHN3_ENST00000509896.1_Missense_Mutation_p.Q693R|LPHN3_ENST00000511324.1_Missense_Mutation_p.Q693R|LPHN3_ENST00000514996.1_Missense_Mutation_p.Q625R|LPHN3_ENST00000508946.1_Missense_Mutation_p.Q625R|LPHN3_ENST00000504896.1_Missense_Mutation_p.Q625R|LPHN3_ENST00000545650.1_Missense_Mutation_p.Q625R|LPHN3_ENST00000507625.1_Missense_Mutation_p.Q693R|LPHN3_ENST00000514591.1_Missense_Mutation_p.Q625R|LPHN3_ENST00000514157.1_Missense_Mutation_p.Q625R|LPHN3_ENST00000506700.1_Missense_Mutation_p.Q625R|LPHN3_ENST00000508693.1_Missense_Mutation_p.Q693R|LPHN3_ENST00000506746.1_Missense_Mutation_p.Q693R|LPHN3_ENST00000506720.1_Missense_Mutation_p.Q693R			Q9HAR2	LPHN3_HUMAN	latrophilin 3	623					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATTCAGCTTCAGAAAAGAGAG	0.353000													23	57					0	0	0.006320	0	0
CCNY	219771	broad.mit.edu	37	10	35841976	35841976	+	Silent	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:35841976A>T	ENST00000374704.4	+	8	789	c.609A>T	c.(607-609)gcA>gcT	p.A203A	CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000374706.1_Silent_p.A149A|CCNY_ENST00000339497.5_Silent_p.A178A|CCNY_ENST00000265375.9_Silent_p.A149A	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	203	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TAACATACGCAGAGATAGATA	0.473000													18	82					0	0	0.007413	0	0
FCRL1	115350	broad.mit.edu	37	1	157772174	157772174	+	Silent	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:157772174A>G	ENST00000358292.3	-	4	651	c.600T>C	c.(598-600)acT>acC	p.T200T	FCRL1_ENST00000491942.1_Silent_p.T200T|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Silent_p.T200T	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	200	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TACTTCTGACAGTGATGCTCA	0.522000													39	83					0	0	0.008740	0	0
TAF1C	9013	broad.mit.edu	37	16	84213276	84213276	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:84213276G>T	ENST00000567759.1	-	14	2063	c.1881C>A	c.(1879-1881)tcC>tcA	p.S627S	TAF1C_ENST00000566732.1_Silent_p.S601S|TAF1C_ENST00000541676.1_Silent_p.S534S|TAF1C_ENST00000378541.4_Silent_p.S627S|TAF1C_ENST00000341690.6_Silent_p.S533S|TAF1C_ENST00000570117.1_Silent_p.S295S	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	627					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GGGAGGTCCAGGAAGCTGTGG	0.657000													6	34					1.06961e-07	1.59363e-07	0.003080	1	0
SYT13	57586	broad.mit.edu	37	11	45265775	45265775	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:45265775T>A	ENST00000020926.3	-	6	1220	c.1109A>T	c.(1108-1110)cAg>cTg	p.Q370L		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	370	C2 2.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						ACTGGAGGCCTGCAGCAGGTC	0.592000													5	39					0	0	0.000602	0	0
FBXL17	64839	broad.mit.edu	37	5	107197455	107197455	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:107197455C>A	ENST00000542267.1	-	9	2478	c.2072G>T	c.(2071-2073)gGc>gTc	p.G691V	FBXL17_ENST00000359660.5_Missense_Mutation_p.G293V	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	691										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GGGGGTCCAGCCCATCTGATA	0.582000													5	37					0.000602214	0.000709753	0.000602	1	0
CPNE4	131034	broad.mit.edu	37	3	131306344	131306344	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:131306344G>A	ENST00000512055.1	-	12	2890	c.764C>T	c.(763-765)gCa>gTa	p.A255V	CPNE4_ENST00000429747.1_Missense_Mutation_p.A255V|CPNE4_ENST00000502818.1_Missense_Mutation_p.A273V|CPNE4_ENST00000512332.1_Missense_Mutation_p.A273V|CPNE4_ENST00000511604.1_Missense_Mutation_p.A255V			Q96A23	CPNE4_HUMAN	copine IV	255										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CCCTTCCATTGCTCCTCTCAT	0.458000													12	47					0	0	0.002450	0	0
ITGAL	3683	broad.mit.edu	37	16	30486882	30486882	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:30486882C>A	ENST00000356798.6	+	4	488	c.308C>A	c.(307-309)cCc>cAc	p.P103H	ITGAL_ENST00000454514.2_Missense_Mutation_p.P103H|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.P103H	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	103					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCAACAGACCCCACAGATGGA	0.468000													7	60					0.00307968	0.00346883	0.003080	1	0
GPR31	2853	broad.mit.edu	37	6	167571216	167571216	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:167571216G>A	ENST00000366834.1	-	1	601	c.104C>T	c.(103-105)gCg>gTg	p.A35V		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	35						integral to plasma membrane	G-protein coupled receptor activity	p.A35V(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GGTCCACAGCGCCACCGCGTT	0.652000													3	20					0	0	0.009096	0	0
NOD2	64127	broad.mit.edu	37	16	50733415	50733415	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:50733415G>T	ENST00000300589.2	+	2	195	c.90G>T	c.(88-90)tcG>tcT	p.S30S	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	30	CARD 1.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AAATGTGCTCGCAGGAGGCTT	0.617000													24	168					3.01185e-09	4.89149e-09	0.003954	1	0
DDI1	414301	broad.mit.edu	37	11	103907872	103907872	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:103907872C>A	ENST00000302259.3	+	1	565	c.322C>A	c.(322-324)Cgt>Agt	p.R108S	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	108					proteolysis		aspartic-type endopeptidase activity	p.R108C(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GTCCAGCTCCCGTCCACAGCA	0.667000													20	72					1.2644e-06	1.79115e-06	0.010504	1	0
OR2W3	343171	broad.mit.edu	37	1	248059635	248059635	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:248059635C>A	ENST00000537741.1	+	3	1004	c.747C>A	c.(745-747)tcC>tcA	p.S249S	OR2W3_ENST00000360358.3_Silent_p.S249S			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S249S(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTGTGGTCTCCCTTTTCTATG	0.512000													46	71					7.34454e-26	1.65093e-25	0.003610	1	0
ZNF223	7766	broad.mit.edu	37	19	44570386	44570386	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:44570386G>T	ENST00000591793.1	+	7	818	c.735G>T	c.(733-735)gaG>gaT	p.E245D	ZNF223_ENST00000434772.3_Missense_Mutation_p.E135D			Q9UK11	ZN223_HUMAN	zinc finger protein 223	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E135E(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CCCAGGTTGAGGAAGGACTAT	0.433000													27	82					3.73808e-20	8.10876e-20	0.005443	1	0
SKIL	6498	broad.mit.edu	37	3	170099060	170099060	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:170099060A>T	ENST00000458537.3	+	2	1836	c.1127A>T	c.(1126-1128)cAg>cTg	p.Q376L	SKIL_ENST00000426052.2_Missense_Mutation_p.Q356L|SKIL_ENST00000413427.2_Missense_Mutation_p.Q376L|SKIL_ENST00000259119.4_Missense_Mutation_p.Q376L	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	376					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			ATGGAATTACAGTCATGGTAT	0.373000													29	115					0	0	0.002445	0	0
HDX	139324	broad.mit.edu	37	X	83723645	83723645	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:83723645G>T	ENST00000297977.5	-	3	1197	c.1086C>A	c.(1084-1086)gaC>gaA	p.D362E	HDX_ENST00000373177.2_Missense_Mutation_p.D362E|HDX_ENST00000506585.2_Missense_Mutation_p.D304E	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	362						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D362E(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ACAGTACATTGTCTGACATAT	0.408000													9	22					4.68919e-08	7.14433e-08	0.008291	1	0
KCNG4	93107	broad.mit.edu	37	16	84256191	84256191	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:84256191G>T	ENST00000308251.4	-	3	1260	c.1192C>A	c.(1192-1194)Cgg>Agg	p.R398R		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	398						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TCCAGCACCCGCCCGGACTCC	0.642000													3	21					6.4e-05	8.07202e-05	0.004672	1	0
TRPV5	56302	broad.mit.edu	37	7	142627269	142627269	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:142627269A>T	ENST00000265310.1	-	3	581	c.233T>A	c.(232-234)cTg>cAg	p.L78Q	TRPV5_ENST00000442623.1_Missense_Mutation_p.L78Q	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	78					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CGTCTCCCCCAGGGCTCCTGG	0.577000													28	62					0	0	0.008361	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29453449	29453449	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:29453449T>C	ENST00000283351.4	-	14	2341	c.2006A>G	c.(2005-2007)tAt>tGt	p.Y669C	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.Y615C	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	669					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACTGTTAATATACGGTAAAGG	0.368000													4	27					0	0	0.001984	0	0
RRP9	9136	broad.mit.edu	37	3	51971226	51971226	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:51971226C>T	ENST00000232888.6	-	6	572	c.499G>A	c.(499-501)Gac>Aac	p.D167N		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	167					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		ATGCTGCAGTCTTTGGCAGCA	0.602000													55	79					0	0	0.003610	0	0
TRPC6	7225	broad.mit.edu	37	11	101359749	101359749	+	Silent	SNP	C	C	A	rs144085223	byFrequency	TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:101359749C>A	ENST00000344327.3	-	4	1636	c.1212G>T	c.(1210-1212)gcG>gcT	p.A404A	TRPC6_ENST00000360497.4_Intron|TRPC6_ENST00000532133.1_Silent_p.A404A|TRPC6_ENST00000348423.4_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	404			A -> V (in dbSNP:rs36111323).		axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GGAACTTGACCGCCATTGTCT	0.483000													16	53					0.000422831	0.000504859	0.004007	1	0
FASTKD1	79675	broad.mit.edu	37	2	170402852	170402852	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:170402852T>A	ENST00000453153.2	-	8	1923	c.1577A>T	c.(1576-1578)cAt>cTt	p.H526L	FASTKD1_ENST00000453929.2_Missense_Mutation_p.H526L	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	526					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						ATCCATGAAATGCTGTAAAGT	0.363000													17	67					0	0	0.004007	0	0
SPRR3	6707	broad.mit.edu	37	1	152975639	152975639	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:152975639C>A	ENST00000331860.3	+	3	293	c.143C>A	c.(142-144)cCt>cAt	p.P48H	SPRR3_ENST00000295367.4_Missense_Mutation_p.P48H|SPRR3_ENST00000542696.1_Missense_Mutation_p.P48H	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	48	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTTCCACAACCTGGAAACACA	0.552000													19	26					5.35267e-07	7.70129e-07	0.007413	1	0
MALAT1	378938	broad.mit.edu	37	11	65268714	65268714	+	RNA	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:65268714G>T	ENST00000534336.1	+	0	3482					NR_002819.2																						TGTGGGGGTGGGGGCAAAATA	0.393000													8	20					0.000157383	0.000191602	0.003080	1	0
GRM6	2916	broad.mit.edu	37	5	178413230	178413230	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:178413230G>A	ENST00000231188.5	-	8	2203	c.2025C>T	c.(2023-2025)atC>atT	p.I675I	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Silent_p.I675I	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	675					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGATGCGGTAGATACGGTTGG	0.652000													4	12					0	0	0.009096	0	0
OR2W3	343171	broad.mit.edu	37	1	248059284	248059284	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:248059284C>A	ENST00000537741.1	+	3	653	c.396C>A	c.(394-396)taC>taA	p.Y132*	OR2W3_ENST00000360358.3_Nonsense_Mutation_p.Y132*			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCCTGCACTACATGGTGATCA	0.612000													21	22					8.10497e-08	1.22403e-07	0.010504	1	0
EP400	57634	broad.mit.edu	37	12	132466874	132466874	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:132466874G>A	ENST00000333577.4	+	6	1997	c.1888G>A	c.(1888-1890)Gtg>Atg	p.V630M	EP400_ENST00000330386.6_Missense_Mutation_p.V594M|EP400_ENST00000332482.4_Missense_Mutation_p.V557M|EP400_ENST00000389562.2_Missense_Mutation_p.V593M|EP400_ENST00000389561.2_Missense_Mutation_p.V594M			Q96L91	EP400_HUMAN	E1A binding protein p400	630					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCAAATCCCGGTGAAGACTCA	0.652000													14	67					0	0	0.004007	0	0
MCHR2	84539	broad.mit.edu	37	6	100368954	100368954	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:100368954G>A	ENST00000281806.2	-	6	1199	c.885C>T	c.(883-885)agC>agT	p.S295S	MCHR2_ENST00000369212.1_Silent_p.S295S|MCHR2_ENST00000445970.1_Silent_p.S295S	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	295						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGCTGGCATAGCTGAGACAGA	0.468000													23	88					0	0	0.002299	0	0
TRIM9	114088	broad.mit.edu	37	14	51446170	51446170	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:51446170G>A	ENST00000298355.3	-	9	3126	c.2005C>T	c.(2005-2007)Ccc>Tcc	p.P669S	TRIM9_ENST00000338969.5_Missense_Mutation_p.P750S	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	669	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					AATGCTATGGGACCTTGTTGT	0.488000													24	217					0	0	0.003330	0	0
AKAP13	11214	broad.mit.edu	37	15	86124255	86124255	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:86124255G>T	ENST00000394518.2	+	7	3051	c.2956G>T	c.(2956-2958)Gca>Tca	p.A986S	AKAP13_ENST00000361243.2_Missense_Mutation_p.A986S	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	986					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TTCACCGGGTGCATCCTCTGC	0.493000													20	132					2.39187e-15	4.82418e-15	0.008871	1	0
NKG7	4818	broad.mit.edu	37	19	51875654	51875654	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:51875654C>A	ENST00000221978.5	-	1	315	c.136G>T	c.(136-138)Ggg>Tgg	p.G46W	NKG7_ENST00000600427.1_Missense_Mutation_p.G46W|NKG7_ENST00000595217.1_Missense_Mutation_p.G46W	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	46						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCCCCATGCCCTGTTGGCCAG	0.587000													42	91					3.21987e-24	7.18564e-24	0.003610	1	0
TRPC4	7223	broad.mit.edu	37	13	38211671	38211671	+	Nonsense_Mutation	SNP	G	G	T	rs140911831		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:38211671G>T	ENST00000379705.3	-	11	3160	c.2303C>A	c.(2302-2304)tCg>tAg	p.S768*	TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.S703*|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.S595*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.S773*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.S768*|TRPC4_ENST00000338947.5_Nonsense_Mutation_p.S595*|TRPC4_ENST00000447043.1_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	768	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGACTCCTTCGAGGCATTCGC	0.403000													20	79					7.45023e-12	1.35945e-11	0.010504	1	0
CACNB1	782	broad.mit.edu	37	17	37341404	37341404	+	Splice_Site	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:37341404C>A	ENST00000394303.3	-	7	836		c.e7-1		CACNB1_ENST00000344140.5_Intron|CACNB1_ENST00000394310.3_Splice_Site	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit						axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	TTCTGTTTGGCTGGGTCCAGA	0.597000													16	22					7.81268e-19	1.6622e-18	0.004990	1	0
PYGM	5837	broad.mit.edu	37	11	64514810	64514810	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:64514810T>C	ENST00000164139.3	-	18	2596	c.2198A>G	c.(2197-2199)tAc>tGc	p.Y733C	PYGM_ENST00000377432.3_Missense_Mutation_p.Y645C	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	733					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AATGCGATCGTAGTACTCCTG	0.552000													9	31					0	0	0.008291	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6380181	6380181	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:6380181T>A	ENST00000335585.5	-	3	310	c.287A>T	c.(286-288)aAg>aTg	p.K96M	PPP2R2C_ENST00000382599.4_Missense_Mutation_p.K96M|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.K79M|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.K89M|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.K89M	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	96					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TGGGAGCCACTTGATCTTGTT	0.577000													22	60					0	0	0.001882	0	0
ATP6V1C1	528	broad.mit.edu	37	8	104065030	104065030	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:104065030G>T	ENST00000395862.3	+	6	612	c.453G>T	c.(451-453)caG>caT	p.Q151H	ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.Q76H|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.Q76H|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.Q151H	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	151					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			GAAATCTTCAGAATTTGGAAC	0.363000													8	65					5.4927e-09	8.77362e-09	0.004482	1	0
BAI1	575	broad.mit.edu	37	8	143570419	143570419	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:143570419G>T	ENST00000517894.1	+	15	3370	c.2476G>T	c.(2476-2478)Gtg>Ttg	p.V826L	BAI1_ENST00000323289.5_Missense_Mutation_p.V826L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	826					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ATCCGTGTTTGTGGTGGGCAC	0.672000													6	20					0.000157383	0.000191602	0.003080	1	0
GBAS	2631	broad.mit.edu	37	7	56051546	56051546	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:56051546G>T	ENST00000322090.3	+	6	599	c.570G>T	c.(568-570)agG>agT	p.R190S	GBAS_ENST00000446778.1_Missense_Mutation_p.R151S	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	190						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATGAACTCAGGTCTTACCAAC	0.418000													37	66					9.8876e-21	2.17527e-20	0.004878	1	0
NSL1	25936	broad.mit.edu	37	1	212964938	212964938	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:212964938G>A	ENST00000366977.3	-	1	186	c.168C>T	c.(166-168)ttC>ttT	p.F56F	NSL1_ENST00000366976.1_Silent_p.F56F|NSL1_ENST00000366975.6_Silent_p.F56F|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000422588.2_Silent_p.F56F	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	56					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GCTTTTGCACGAAGCGGCCGC	0.617000													10	111					0	0	0.006214	0	0
CCDC67	159989	broad.mit.edu	37	11	93127755	93127755	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:93127755C>A	ENST00000298050.3	+	10	1272	c.1172C>A	c.(1171-1173)gCt>gAt	p.A391D	CCDC67_ENST00000525646.1_Missense_Mutation_p.A133D	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	391										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				ACAAAGAAAGCTGCCCTTCTG	0.373000													4	30					0.000602214	0.000709753	0.000602	1	0
B4GALT6	9331	broad.mit.edu	37	18	29225346	29225346	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:29225346C>A	ENST00000306851.5	-	4	739	c.443G>T	c.(442-444)aGg>aTg	p.R148M	B4GALT6_ENST00000237019.7_Missense_Mutation_p.R109M|B4GALT6_ENST00000383131.3_Missense_Mutation_p.R148M	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	148					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			GTCTTTTGGCCTCCAATGACC	0.393000													12	90					0.00244969	0.00277334	0.002450	1	0
CHD5	26038	broad.mit.edu	37	1	6214849	6214849	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:6214849C>A	ENST00000262450.3	-	5	715	c.616G>T	c.(616-618)Gcg>Tcg	p.A206S	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	206					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		gctgctgccgcGGAGCTGCCC	0.657000													4	30					0.00909568	0.00995582	0.009096	1	0
PCDHB13	56123	broad.mit.edu	37	5	140594551	140594551	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:140594551T>A	ENST00000341948.4	+	1	1043	c.856T>A	c.(856-858)Tca>Aca	p.S286T		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		286	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCCAAGCTTCAGAAGAGAT	0.428000													25	157					0	0	0.003954	0	0
PTPRJ	5795	broad.mit.edu	37	11	48161127	48161127	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:48161127G>T	ENST00000418331.2	+	11	2594	c.2242G>T	c.(2242-2244)Gca>Tca	p.A748S		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	748	Fibronectin type-III 8.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGCGCCAATGCAGGCTTTGA	0.577000													8	21					1.26484e-09	2.10491e-09	0.003080	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64640126	64640126	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:64640126C>A	ENST00000498707.1	-	8	1561	c.1219G>T	c.(1219-1221)Gaa>Taa	p.E407*	ADAMTS9_ENST00000459780.1_Nonsense_Mutation_p.E407*|ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.E379*	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	407	Peptidase M12B.				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)		GTTCCCAGTTCAGCCAGGCCT	0.408000													56	89					3.37225e-12	6.24893e-12	0.003610	1	0
INPP1	3628	broad.mit.edu	37	2	191236092	191236092	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:191236092G>T	ENST00000392329.2	+	7	1864	c.1164G>T	c.(1162-1164)ctG>ctT	p.L388L	INPP1_ENST00000541441.1_Silent_p.L388L|INPP1_ENST00000322522.4_Silent_p.L388L	NM_001128928.1	NP_001122400.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	388					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	TGAGCCTCCTGGTCCAAAACC	0.527000													5	33					1.23904e-05	1.63414e-05	0.000602	1	0
CPNE8	144402	broad.mit.edu	37	12	39223207	39223207	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:39223207C>A	ENST00000331366.5	-	6	477	c.381G>T	c.(379-381)caG>caT	p.Q127H	CPNE8_ENST00000360449.3_Missense_Mutation_p.Q115H	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	127								p.Q127H(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GGCGACTTCCCTGTGAACCAA	0.343000													33	210					5.73237e-09	9.14702e-09	0.006230	1	0
ATP7B	540	broad.mit.edu	37	13	52549097	52549097	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:52549097T>A	ENST00000242839.4	-	2	415	c.259A>T	c.(259-261)Atc>Ttc	p.I87F	ATP7B_ENST00000400366.3_Missense_Mutation_p.I87F|ATP7B_ENST00000400370.3_Missense_Mutation_p.I87F|ATP7B_ENST00000418097.2_Missense_Mutation_p.I87F|ATP7B_ENST00000542656.1_Missense_Mutation_p.I55F|ATP7B_ENST00000448424.2_Missense_Mutation_p.I87F|ATP7B_ENST00000344297.5_Missense_Mutation_p.I87F	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	87	HMA 1.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TTCATGCTGATGATGCCTTTC	0.498000									Wilson disease				19	86					0	0	0.007413	0	0
SERPINB4	6318	broad.mit.edu	37	18	61306954	61306954	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:61306954G>T	ENST00000341074.5	-	6	641	c.526C>A	c.(526-528)Ctt>Att	p.L176I	SERPINB4_ENST00000356424.6_Missense_Mutation_p.L176I	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GCGTTCACAAGAACCAGTGTC	0.328000													8	80					0.000157383	0.000191602	0.003080	1	0
ERF	2077	broad.mit.edu	37	19	42752804	42752804	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:42752804C>A	ENST00000222329.4	-	4	1617	c.1460G>T	c.(1459-1461)cGc>cTc	p.R487L	ERF_ENST00000440177.2_Missense_Mutation_p.R412L|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	487					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				TTCACTCCAGCGCCGCTTAAA	0.682000													19	56					2.4624e-09	4.02867e-09	0.008871	1	0
PLCL1	5334	broad.mit.edu	37	2	198950457	198950457	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:198950457C>A	ENST00000428675.1	+	2	2614	c.2216C>A	c.(2215-2217)gCt>gAt	p.A739D	PLCL1_ENST00000437704.2_Missense_Mutation_p.A641D	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	739	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CCCAAGGGAGCTTGTGCCAAA	0.443000													14	71					1.5842e-08	2.48946e-08	0.001855	1	0
UNC45A	55898	broad.mit.edu	37	15	91491055	91491055	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:91491055G>T	ENST00000394275.2	+	14	2320	c.1485G>T	c.(1483-1485)ggG>ggT	p.G495G	UNC45A_ENST00000418476.2_Silent_p.G510G	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	510					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CGGCTGGAGGGACTGACTTCA	0.577000													7	33					0.00448238	0.00501238	0.004482	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43626161	43626161	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:43626161G>A	ENST00000332857.6	-	4	2554	c.2526C>T	c.(2524-2526)acC>acT	p.T842T		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CAGATTCACAGGTGGCTGAGG	0.527000													30	44					0	0	0.002445	0	0
MARCH8	220972	broad.mit.edu	37	10	45953770	45953770	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:45953770C>A	ENST00000453424.2	-	8	1900	c.1639G>T	c.(1639-1641)Gga>Tga	p.G547*	MARCH8_ENST00000395769.2_Nonsense_Mutation_p.G265*|MARCH8_ENST00000395771.3_Nonsense_Mutation_p.G265*|MARCH8_ENST00000319836.3_Nonsense_Mutation_p.G265*|MARCH8_ENST00000476962.1_5'UTR			Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	265						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						ATTCCATATCCATGTTTATTT	0.383000													32	88					1.7881e-09	2.96615e-09	0.008361	1	0
JARID2	3720	broad.mit.edu	37	6	15501420	15501420	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:15501420A>T	ENST00000341776.2	+	8	2472	c.2228A>T	c.(2227-2229)aAc>aTc	p.N743I	JARID2_ENST00000541660.1_Missense_Mutation_p.N705I|JARID2_ENST00000397311.3_Missense_Mutation_p.N571I	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	743					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CACACAGAGAACGACCACCAC	0.642000													26	107					0	0	0.003954	0	0
SPRR2E	6704	broad.mit.edu	37	1	153066140	153066140	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:153066140G>T	ENST00000368751.1	-	2	162	c.88C>A	c.(88-90)Ccg>Acg	p.P30T	SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Missense_Mutation_p.P30T			P22531	SPR2E_HUMAN	small proline-rich protein 2E	30	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCACTTCGGGGGTGGACAT	0.617000													56	118					9.72345e-25	2.17306e-24	0.003610	1	0
SHC4	399694	broad.mit.edu	37	15	49149957	49149957	+	Silent	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:49149957T>A	ENST00000332408.4	-	7	1430	c.1002A>T	c.(1000-1002)atA>atT	p.I334I	SHC4_ENST00000396535.3_Silent_p.I91I|SHC4_ENST00000537958.1_Silent_p.I48I	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	334	PID.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		AAGCCTGCCCTATGGTACTTA	0.343000													34	126					0	0	0.007835	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744934	140744934	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:140744934A>T	ENST00000518069.1	+	1	1037	c.1037A>T	c.(1036-1038)gAa>gTa	p.E346V	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCCCCCGAAGTGATCCTC	0.507000													9	40					0	0	0.004482	0	0
OR4A16	81327	broad.mit.edu	37	11	55110929	55110929	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:55110929T>G	ENST00000314721.2	+	1	303	c.253T>G	c.(253-255)Tgt>Ggt	p.C85G		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						AGACTTACTCTGTGATAAAAT	0.448000													36	196					0	0	0.004878	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417495	150417495	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:150417495G>T	ENST00000307194.5	+	3	543	c.403G>T	c.(403-405)Gtg>Ttg	p.V135L		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1									p.V135M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGAGGCAGGTGAGGGACAT	0.642000													9	66					1.58986e-06	2.22552e-06	0.008291	1	0
TRIM49C	642612	broad.mit.edu	37	11	89774448	89774448	+	Silent	SNP	G	G	A	rs77759231	by1000genomes	TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:89774448G>A	ENST00000448984.1	+	8	1418	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	363	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						TGTATCGGAAGGAGAAGAATC	0.453000													3	49					0	0	0.004672	0	0
XIRP2	129446	broad.mit.edu	37	2	168115599	168115599	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:168115599A>T	ENST00000409728.1	+	11	2731	c.2642A>T	c.(2641-2643)aAg>aTg	p.K881M	XIRP2_ENST00000420519.1_Missense_Mutation_p.K881M|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.K626M|XIRP2_ENST00000409756.2_Missense_Mutation_p.K848M|XIRP2_ENST00000409043.1_Missense_Mutation_p.K848M	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCATTTTCCAAGAAAAATGAG	0.294000													8	34					0	0	0.004482	0	0
EXO1	9156	broad.mit.edu	37	1	242024751	242024751	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:242024751A>G	ENST00000366548.3	+	10	1581	c.988A>G	c.(988-990)Aaa>Gaa	p.K330E	EXO1_ENST00000348581.5_Missense_Mutation_p.K330E|EXO1_ENST00000518483.1_Missense_Mutation_p.K330E	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	330	Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ACTTGGAAATAAAGATATAAA	0.318000								Editing and processing nucleases					6	83					0	0	0.001168	0	0
CCDC150	284992	broad.mit.edu	37	2	197521454	197521454	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:197521454A>T	ENST00000389175.4	+	3	409	c.274A>T	c.(274-276)Att>Ttt	p.I92F	CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_5'UTR|CCDC150_ENST00000423093.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	92										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AAAAACAGATATTTTATGGAA	0.413000													13	42					0	0	0.001855	0	0
C20orf194	25943	broad.mit.edu	37	20	3354734	3354734	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:3354734C>A	ENST00000252032.9	-	6	640	c.573G>T	c.(571-573)gaG>gaT	p.E191D		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	191										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CTCCAATGCCCTCAAGTGCAA	0.393000													10	82					0.000978159	0.00113984	0.000978	1	0
PCDHGA5	56110	broad.mit.edu	37	5	140746034	140746034	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:140746034G>T	ENST00000518069.1	+	1	2137	c.2137G>T	c.(2137-2139)Gtg>Ttg	p.V713L	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGCTGGTGCTCAGACT	0.622000													30	165					1.75199e-13	3.34646e-13	0.007291	1	0
SALL1	6299	broad.mit.edu	37	16	51171394	51171394	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:51171394G>C	ENST00000440970.1	-	3	3744	c.3313C>G	c.(3313-3315)Ccc>Gcc	p.P1105A	SALL1_ENST00000541611.1_Missense_Mutation_p.P25A|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000251020.4_Missense_Mutation_p.P1202A	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1202					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AATGTCATGGGGCCATCCACA	0.557000													3	44					0	0	0.004672	0	0
CBLN3	643866	broad.mit.edu	37	14	24897058	24897058	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:24897058C>A	ENST00000267406.6	-	3	1025	c.555G>T	c.(553-555)cgG>cgT	p.R185R	CBLN3_ENST00000555436.1_Silent_p.R134R	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	185	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		GTAGATTCCCCCGACGCAGGC	0.577000													30	110					7.26314e-15	1.43505e-14	0.007291	1	0
EDIL3	10085	broad.mit.edu	37	5	83356224	83356224	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:83356224G>T	ENST00000296591.5	-	9	1450	c.1032C>A	c.(1030-1032)ctC>ctA	p.L344L	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Silent_p.L334L	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	344	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGTCCATGTTGAGCGTTCTGA	0.483000													8	40					0.000157383	0.000191602	0.003080	1	0
PCDHA3	56145	broad.mit.edu	37	5	140181955	140181955	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:140181955C>A	ENST00000522353.2	+	1	1173	c.1173C>A	c.(1171-1173)ccC>ccA	p.P391P	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.P391P|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGACGCCCCACGTCCCCT	0.572000													19	80					8.34094e-07	1.18469e-06	0.008871	1	0
FAM154B	283726	broad.mit.edu	37	15	82574561	82574561	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:82574561G>C	ENST00000339465.5	+	3	424	c.355G>C	c.(355-357)Gat>Cat	p.D119H	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.D104H	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	119										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TACATTTCAGGATGATTTTGT	0.403000													29	160					0	0	0.007291	0	0
CHRDL1	91851	broad.mit.edu	37	X	109922564	109922564	+	Splice_Site	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:109922564T>A	ENST00000218054.4	-	11	1436	c.1240_splice	c.e11+1	p.S414_splice	CHRDL1_ENST00000394797.4_Splice_Site_p.S414_splice|CHRDL1_ENST00000444321.2_Splice_Site_p.S415_splice|CHRDL1_ENST00000372042.1_Splice_Site_p.S416_splice|CHRDL1_ENST00000482160.1_Splice_Site_p.S336_splice|CHRDL1_ENST00000372045.1_Splice_Site_p.S408_splice|CHRDL1_ENST00000434224.1_Splice_Site_p.S335_splice	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	408					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TACTACTTACTCAGGGTTGTT	0.453000													19	21					0	0	0.008871	0	0
ST5	6764	broad.mit.edu	37	11	8732780	8732780	+	Splice_Site	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:8732780T>A	ENST00000534127.1	-	13	2558		c.e13-2		ST5_ENST00000526757.1_Splice_Site|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Splice_Site|ST5_ENST00000530438.1_Splice_Site|ST5_ENST00000526099.1_Splice_Site|ST5_ENST00000313726.6_Splice_Site|ST5_ENST00000357665.1_Splice_Site	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5						positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TCGGTCCAGCTGCAGGGAAGA	0.592000													12	35					0	0	0.000978	0	0
CASD1	64921	broad.mit.edu	37	7	94185001	94185001	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:94185001G>T	ENST00000297273.4	+	18	2612	c.2325G>T	c.(2323-2325)ttG>ttT	p.L775F		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	775						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGAAAAGGTTGGCATGTATAG	0.318000													14	90					4.36969e-10	7.41509e-10	0.001855	1	0
CYP26B1	56603	broad.mit.edu	37	2	72371317	72371317	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:72371317C>A	ENST00000001146.2	-	2	433	c.230G>T	c.(229-231)aGg>aTg	p.R77M	CYP26B1_ENST00000546307.1_Intron	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	77					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						ATACTTCTCCCTCCGCGACGA	0.667000													4	32					0.00116845	0.00134841	0.001168	1	0
LRP2	4036	broad.mit.edu	37	2	170070325	170070325	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:170070325G>A	ENST00000263816.3	-	36	6167	c.5882C>T	c.(5881-5883)tCc>tTc	p.S1961F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1961					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCAGGGGTGGGAAAGCTGGTG	0.408000													13	72					0	0	0.001855	0	0
KEL	3792	broad.mit.edu	37	7	142651328	142651328	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:142651328C>T	ENST00000355265.2	-	8	1341	c.867G>A	c.(865-867)ctG>ctA	p.L289L	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	289					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCGCTGCTCCAGGGGCCTCA	0.582000													10	47					0	0	0.000978	0	0
SPTA1	6708	broad.mit.edu	37	1	158607920	158607920	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:158607920C>A	ENST00000368148.3	-	36	5272	c.5092G>T	c.(5092-5094)Gtc>Ttc	p.V1698F	SPTA1_ENST00000368147.3_Missense_Mutation_p.V1698F	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1698					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)					AATTCTTGGACATTCAGGAAA	0.433000													57	89					3.07002e-29	6.97159e-29	0.003610	1	0
CDH11	1009	broad.mit.edu	37	16	64981634	64981634	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:64981634G>T	ENST00000268603.4	-	13	2878	c.2263C>A	c.(2263-2265)Ctg>Atg	p.L755M	CDH11_ENST00000566827.1_Missense_Mutation_p.L629M|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	755					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGGGAGCTCAGGGACCCGGCC	0.502000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			33	56					2.51541e-25	5.64602e-25	0.004878	1	0
OR8D1	283159	broad.mit.edu	37	11	124180512	124180512	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:124180512C>A	ENST00000357821.2	-	1	221	c.151G>T	c.(151-153)Gtc>Ttc	p.V51F		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGAGGGCTGACTGCAATCAGG	0.507000													13	82					2.61681e-11	4.68129e-11	0.002450	1	0
RYR2	6262	broad.mit.edu	37	1	237813375	237813375	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:237813375G>C	ENST00000366574.2	+	50	8028	c.7711G>C	c.(7711-7713)Gtt>Ctt	p.V2571L	RYR2_ENST00000542537.1_Missense_Mutation_p.V2555L|RYR2_ENST00000360064.6_Missense_Mutation_p.V2569L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2571	4 X approximate repeats.				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)			TTCCATAGAAGTTTGTTTACT	0.378000													14	199					0	0	0.003163	0	0
FCRL1	115350	broad.mit.edu	37	1	157772173	157772173	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:157772173C>A	ENST00000358292.3	-	4	652	c.601G>T	c.(601-603)Gtc>Ttc	p.V201F	FCRL1_ENST00000491942.1_Missense_Mutation_p.V201F|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.V201F	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	201						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTACTTCTGACAGTGATGCTC	0.522000													39	85					9.14704e-12	1.66711e-11	0.008740	1	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021136	46021136	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr21:46021136C>A	ENST00000380102.2	+	1	640	c.615C>A	c.(613-615)tgC>tgA	p.C205*	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	205	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						AATCAGGCTGCATCAGCTCCT	0.652000													15	33					1.50039e-11	2.70909e-11	0.001882	1	0
FRMD3	257019	broad.mit.edu	37	9	85950531	85950531	+	Missense_Mutation	SNP	C	C	A	rs17854110		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:85950531C>A	ENST00000304195.3	-	6	702	c.496G>T	c.(496-498)Gat>Tat	p.D166Y	FRMD3_ENST00000376438.1_Missense_Mutation_p.D166Y	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	166	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GGATGCTCATCAGGATCGTAA	0.383000													6	32					0.00198382	0.00225084	0.001984	1	0
KCNS2	3788	broad.mit.edu	37	8	99440816	99440816	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:99440816C>A	ENST00000287042.4	+	2	959	c.609C>A	c.(607-609)acC>acA	p.T203T	KCNS2_ENST00000521839.1_Silent_p.T203T	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	203						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCATCATCACCATGTGCCTCA	0.592000													16	44					1.5739e-10	2.73975e-10	0.004007	1	0
RIMS2	9699	broad.mit.edu	37	8	104940079	104940079	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:104940079C>T	ENST00000436393.2	+	9	1781	c.1540C>T	c.(1540-1542)Ctt>Ttt	p.L514F	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Missense_Mutation_p.L736F			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	810					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAGCCAAAGCCTTAGTAGAAG	0.358000										HNSCC(12;0.0054)			4	17					0	0	0.009096	0	0
STX1B	112755	broad.mit.edu	37	16	31008297	31008297	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:31008297G>A	ENST00000215095.5	-	6	669	c.438C>T	c.(436-438)gaC>gaT	p.D146D	STX1B_ENST00000565419.1_Silent_p.D146D	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	146					intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						GCTGGATCCGGTCCTTGCAGC	0.627000													3	17					0	0	0.004672	0	0
TMIE	259236	broad.mit.edu	37	3	46751145	46751145	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:46751145G>A	ENST00000326431.3	+	4	593	c.438G>A	c.(436-438)aaG>aaA	p.K146K		NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN	transmembrane inner ear	146	Lys-rich.					integral to membrane				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		AGGATGAGAAGAATGAGGCCA	0.542000													15	38					0	0	0.002450	0	0
ZNF345	25850	broad.mit.edu	37	19	37368305	37368305	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:37368305G>T	ENST00000529555.1	+	2	1361	c.573G>T	c.(571-573)cgG>cgT	p.R191R	ZNF345_ENST00000589046.1_Silent_p.R191R|ZNF345_ENST00000420450.1_Silent_p.R191R|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	191					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCTTATTCGGCATCACAGAA	0.423000													40	65					2.75727e-19	5.88243e-19	0.004878	1	0
PRUNE2	158471	broad.mit.edu	37	9	79322395	79322395	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:79322395C>A	ENST00000428286.1	-	8	4918	c.3718G>T	c.(3718-3720)Gtg>Ttg	p.V1240L	PRUNE2_ENST00000376718.3_Missense_Mutation_p.V1599L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1599					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAATCCTTCACTTTGGTAACT	0.368000													8	52					0.00448238	0.00501238	0.004482	1	0
ACVR1C	130399	broad.mit.edu	37	2	158399247	158399247	+	Silent	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:158399247T>A	ENST00000243349.7	-	6	1431	c.1071A>T	c.(1069-1071)atA>atT	p.I357I	ACVR1C_ENST00000348328.5_Silent_p.I200I|ACVR1C_ENST00000335450.7_Silent_p.I277I|ACVR1C_ENST00000409680.3_Silent_p.I307I	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	357	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GATTCTGAGGTATGTCGATAG	0.413000													22	131					0	0	0.003954	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996266	143996266	+	Silent	SNP	A	A	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:143996266A>C	ENST00000323110.2	-	4	656	c.654T>G	c.(652-654)tcT>tcG	p.S218S		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	218					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TCAGGCTGGCAGAACTGGGGC	0.612000									Familial Hyperaldosteronism type I				5	28					0	0	0.001168	0	0
CHST1	8534	broad.mit.edu	37	11	45671423	45671423	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:45671423G>T	ENST00000308064.2	-	4	1721	c.1051C>A	c.(1051-1053)Cga>Aga	p.R351R		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	351					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCCGAGTTTCGCACGGTGCCG	0.682000													7	51					8.12818e-05	0.000100935	0.001984	1	0
NCOA1	8648	broad.mit.edu	37	2	24896315	24896315	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:24896315G>T	ENST00000405141.1	+	8	1048	c.337G>T	c.(337-339)Gga>Tga	p.G113*	NCOA1_ENST00000538539.1_Nonsense_Mutation_p.G113*|NCOA1_ENST00000348332.3_Nonsense_Mutation_p.G113*|NCOA1_ENST00000406961.1_Nonsense_Mutation_p.G113*|NCOA1_ENST00000407230.1_5'UTR|NCOA1_ENST00000395856.3_Nonsense_Mutation_p.G113*|NCOA1_ENST00000288599.5_Nonsense_Mutation_p.G113*			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	113	PAS.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAATCCTTGGGACCTCTTCT	0.338000			T	PAX3	alveolar rhadomyosarcoma								17	75					1.56452e-12	2.91306e-12	0.007413	1	0
BAI1	575	broad.mit.edu	37	8	143623401	143623401	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:143623401C>T	ENST00000517894.1	+	28	4700	c.3806C>T	c.(3805-3807)gCc>gTc	p.A1269V	BAI1_ENST00000323289.5_Missense_Mutation_p.A1269V			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1269					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTGGCCCATGCCAAGGGGCCG	0.672000													3	11					0	0	0.004672	0	0
UACA	55075	broad.mit.edu	37	15	70952514	70952514	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:70952514C>A	ENST00000322954.6	-	18	4340	c.4155G>T	c.(4153-4155)cgG>cgT	p.R1385R	UACA_ENST00000379983.2_Silent_p.R1372R|UACA_ENST00000560441.1_Silent_p.R1370R|UACA_ENST00000539319.1_Silent_p.R1276R	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1385						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GAAGGTGTGTCCGATAAATTG	0.353000													11	78					2.27111e-07	3.32311e-07	0.001368	1	0
PANK2	80025	broad.mit.edu	37	20	3899412	3899412	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:3899412G>C	ENST00000497424.1	+	6	1069	c.758G>C	c.(757-759)gGg>gCg	p.G253A	PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Missense_Mutation_p.G544A	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	544					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGGTCCAAGGGGCAGTTGAAA	0.433000													41	215					0	0	0.003214	0	0
GLRA4	441509	broad.mit.edu	37	X	102979521	102979521	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:102979521A>T	ENST00000372617.4	-	3	638	c.218T>A	c.(217-219)gTg>gAg	p.V73E		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	73						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GTTGCAGGTCACGTTCACGGG	0.577000													6	11					0	0	0.001168	0	0
RGS6	9628	broad.mit.edu	37	14	72939627	72939627	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:72939627A>T	ENST00000553530.1	+	9	791	c.584A>T	c.(583-585)cAa>cTa	p.Q195L	RGS6_ENST00000434263.2_Missense_Mutation_p.Q126L|RGS6_ENST00000404301.2_Missense_Mutation_p.Q195L|RGS6_ENST00000555571.1_Missense_Mutation_p.Q195L|RGS6_ENST00000406236.4_Missense_Mutation_p.Q195L|RGS6_ENST00000553525.1_Missense_Mutation_p.Q195L|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000556437.1_Missense_Mutation_p.Q195L|RGS6_ENST00000407322.4_Missense_Mutation_p.Q195L|RGS6_ENST00000343854.6_Missense_Mutation_p.Q195L|RGS6_ENST00000402788.2_Missense_Mutation_p.Q195L|RGS6_ENST00000355512.6_Missense_Mutation_p.Q195L|RGS6_ENST00000554782.1_Missense_Mutation_p.Q56L	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	195					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTGGATAGTCAAGAACGAGCC	0.368000													40	210					0	0	0.003610	0	0
PPP1R26	9858	broad.mit.edu	37	9	138378997	138378997	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:138378997G>C	ENST00000356818.2	+	4	3190	c.2641G>C	c.(2641-2643)Gag>Cag	p.E881Q	PPP1R26_ENST00000605660.1_Missense_Mutation_p.E881Q|PPP1R26_ENST00000401470.3_Missense_Mutation_p.E881Q|PPP1R26_ENST00000605286.1_Missense_Mutation_p.E881Q|PPP1R26_ENST00000604351.1_Missense_Mutation_p.E881Q|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	881						nucleolus	protein binding										GTGCAGGAAGGAGCCTGCCCC	0.667000													10	64					0	0	0.002450	0	0
SF1	7536	broad.mit.edu	37	11	64534698	64534698	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:64534698C>A	ENST00000377394.3	-	11	1726	c.1372G>T	c.(1372-1374)Ggg>Tgg	p.G458W	SF1_ENST00000377390.3_Silent_p.V456V|SF1_ENST00000227503.9_Silent_p.V456V|SF1_ENST00000422298.2_Silent_p.V341V|SF1_ENST00000433274.2_Silent_p.V430V|SF1_ENST00000377387.1_Silent_p.V581V|SF1_ENST00000334944.5_Silent_p.V456V	NM_201997.2	NP_973726.2	Q15637	SF01_HUMAN	splicing factor 1	0	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CCCCAGAGCCCACAGGCGTAC	0.557000											OREG0021062	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	57					8.60227e-14	1.6533e-13	0.004007	1	0
LUM	4060	broad.mit.edu	37	12	91502039	91502039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:91502039C>A	ENST00000266718.4	-	2	1172	c.718G>T	c.(718-720)Gaa>Taa	p.E240*	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	240					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.E240K(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TCAGCCAGTTCGTTGTGAGAT	0.388000													23	102					4.26978e-12	7.83719e-12	0.003330	1	0
SERPINA9	327657	broad.mit.edu	37	14	94933718	94933718	+	Splice_Site	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:94933718G>C	ENST00000337425.5	-	3	758	c.682_splice	c.e3-1	p.A228_splice	SERPINA9_ENST00000546329.1_Splice_Site_p.A192_splice|SERPINA9_ENST00000380365.3_Splice_Site_p.A210_splice|SERPINA9_ENST00000448305.2_Splice_Site_p.A130_splice|SERPINA9_ENST00000424550.2_Splice_Site_p.A79_splice|SERPINA9_ENST00000298845.7_Splice_Site_p.A128_splice	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	210				L -> P (in Ref. 1; AAO65244).	regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TCTCCCACTTGGCTAGCACAA	0.453000													5	26					0	0	0.006214	0	0
OR2C3	81472	broad.mit.edu	37	1	247695144	247695144	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:247695144G>T	ENST00000366487.3	-	2	1031	c.670C>A	c.(670-672)Cgg>Agg	p.R224R	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AACACGGCCCGGGCAATGTGG	0.542000													19	48					4.96729e-08	7.5458e-08	0.008871	1	0
POP1	10940	broad.mit.edu	37	8	99161154	99161154	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:99161154G>T	ENST00000401707.2	+	13	1903	c.1822G>T	c.(1822-1824)Ggt>Tgt	p.G608C	POP1_ENST00000349693.3_Missense_Mutation_p.G608C	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)	608					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)			AAAAGTGACTGGTGAAGATCG	0.473000													6	26					8.12818e-05	0.000100935	0.001984	1	0
KIAA1549	57670	broad.mit.edu	37	7	138522678	138522678	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:138522678C>A	ENST00000440172.1	-	20	5826	c.5778G>T	c.(5776-5778)caG>caT	p.Q1926H	TMEM213_ENST00000413208.1_Silent_p.L73L|KIAA1549_ENST00000422774.1_Missense_Mutation_p.Q1942H|KIAA1549_ENST00000242365.4_Missense_Mutation_p.Q1876H	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1942						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCACGGTGCTCTGTTTCTGGG	0.577000			O	BRAF	pilocytic astrocytoma								11	25					3.07112e-06	4.20786e-06	0.000978	1	0
ADAM12	8038	broad.mit.edu	37	10	127789731	127789731	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:127789731T>C	ENST00000368679.4	-	9	1139	c.830A>G	c.(829-831)cAg>cGg	p.Q277R	ADAM12_ENST00000368676.4_Missense_Mutation_p.Q277R	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	277	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GAATGGGTCCTGACTTACAGA	0.483000													8	40					0	0	0.004482	0	0
HECTD2	143279	broad.mit.edu	37	10	93244262	93244262	+	Splice_Site	SNP	A	A	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:93244262A>C	ENST00000446394.1	+	10	933		c.e10-1		HECTD2_ENST00000536715.1_Splice_Site|HECTD2_ENST00000371667.1_5'UTR|HECTD2_ENST00000298068.5_Splice_Site|HECTD2_ENST00000498446.1_3'UTR			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AATCTTTACCAGATTGTCCCA	0.323000													18	68					0	0	0.010504	0	0
LRP1	4035	broad.mit.edu	37	12	57569296	57569296	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:57569296G>T	ENST00000243077.3	+	23	4067	c.3601G>T	c.(3601-3603)Ggc>Tgc	p.G1201C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1201	EGF-like 5.				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)	AGTGGCACCTGGCGAAGGCAT	0.592000											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	30					1.6384e-10	2.83295e-10	0.001984	1	0
MAP2K1	5604	broad.mit.edu	37	15	66737042	66737042	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:66737042A>T	ENST00000307102.5	+	5	1096	c.565A>T	c.(565-567)Aga>Tga	p.R189*		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	189	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GATCATGCACAGAGGTAAGAA	0.328000													23	111					0	0	0.003330	0	0
TBC1D12	23232	broad.mit.edu	37	10	96260041	96260041	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:96260041A>T	ENST00000225235.4	+	6	1586	c.1476A>T	c.(1474-1476)aaA>aaT	p.K492N		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	492	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TCCGTGGGAAAGTTTGGAGTC	0.418000													3	31					0	0	0.004672	0	0
DDN	23109	broad.mit.edu	37	12	49392080	49392080	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:49392080C>G	ENST00000421952.2	-	2	600	c.579G>C	c.(577-579)tgG>tgC	p.W193C		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	193	Interaction with MAGI2.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GCCGACCTCCCCAGGGCCCCG	0.781000													6	7					0	0	0.001984	0	0
DDI1	414301	broad.mit.edu	37	11	103908410	103908410	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:103908410C>A	ENST00000302259.3	+	1	1103	c.860C>A	c.(859-861)gCt>gAt	p.A287D	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	287					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CGACGGTGGGCTGGGGTTGCT	0.502000													12	65					0.00185496	0.00213272	0.001855	1	0
BEND6	221336	broad.mit.edu	37	6	56857308	56857308	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:56857308C>A	ENST00000370748.3	+	3	688	c.253C>A	c.(253-255)Cgg>Agg	p.R85R	BEND6_ENST00000370750.2_Silent_p.R85R|BEND6_ENST00000370746.3_Silent_p.R85R|BEND6_ENST00000370745.1_Silent_p.R85R			Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	85								p.R85R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AACAAACACCCGGAAAGAAAA	0.388000													30	160					1.08312e-15	2.19597e-15	0.009535	1	0
RELN	5649	broad.mit.edu	37	7	103244928	103244928	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:103244928G>T	ENST00000424685.2	-	23	3170	c.3011C>A	c.(3010-3012)tCc>tAc	p.S1004Y	RELN_ENST00000428762.1_Missense_Mutation_p.S1004Y|RELN_ENST00000343529.5_Missense_Mutation_p.S1004Y			P78509	RELN_HUMAN	reelin	1004					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTAGCACTGGACCTAGAAAC	0.463000													13	43					1.5842e-08	2.48946e-08	0.001855	1	0
HRG	3273	broad.mit.edu	37	3	186383976	186383976	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:186383976G>T	ENST00000232003.4	+	1	236	c.156G>T	c.(154-156)cgG>cgT	p.R52R		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	52	Cystatin 1.|Interaction with ATP5A1.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		AATTGCTGCGGATTGCTGATG	0.537000													19	49					5.26018e-13	9.91317e-13	0.001882	1	0
GPR22	2845	broad.mit.edu	37	7	107115200	107115200	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:107115200C>T	ENST00000304402.4	+	3	2038	c.695C>T	c.(694-696)aCc>aTc	p.T232I	COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	232						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						ATCACATACACCAAAATACTT	0.338000													7	41					0	0	0.001984	0	0
SNX30	401548	broad.mit.edu	37	9	115613163	115613163	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:115613163G>T	ENST00000374232.3	+	7	1203	c.1039G>T	c.(1039-1041)Gtt>Ttt	p.V347F		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	347					cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GAGGGACCAAGTTCAAGCAGA	0.552000													3	19					0.00909568	0.00995582	0.009096	1	0
SLC51A	200931	broad.mit.edu	37	3	195959296	195959296	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:195959296C>A	ENST00000296327.5	+	8	996	c.787C>A	c.(787-789)Ctc>Atc	p.L263I	PCYT1A_ENST00000419333.1_Intron	NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		GCAGGTTCTCCTCATCCTGAC	0.597000													17	45					3.52763e-06	4.82483e-06	0.004990	1	0
SPOCD1	90853	broad.mit.edu	37	1	32280437	32280437	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:32280437C>A	ENST00000360482.2	-	2	627	c.498G>T	c.(496-498)gaG>gaT	p.E166D	SPOCD1_ENST00000373648.2_Missense_Mutation_p.E166D|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Missense_Mutation_p.E166D	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	166					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CGTCTCTGGCCTCCCTGGGCC	0.617000													17	89					6.49762e-13	1.21713e-12	0.006122	1	0
DDX4	54514	broad.mit.edu	37	5	55111240	55111240	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:55111240G>T	ENST00000505374.1	+	21	2178	c.2086G>T	c.(2086-2088)Gat>Tat	p.D696Y	DDX4_ENST00000514278.2_Missense_Mutation_p.D676Y|DDX4_ENST00000511853.1_Missense_Mutation_p.D547Y|DDX4_ENST00000353507.5_Missense_Mutation_p.D662Y|DDX4_ENST00000354991.5_Missense_Mutation_p.D662Y	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	696					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TGCATCAGTTGATACCAGAAA	0.363000													16	84					4.7546e-09	7.62605e-09	0.004007	1	0
C9orf153	389766	broad.mit.edu	37	9	88842843	88842843	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:88842843G>T	ENST00000339137.3	-	3	302	c.169C>A	c.(169-171)Ctt>Att	p.L57I	C9orf153_ENST00000469914.1_Intron|C9orf153_ENST00000376001.3_Missense_Mutation_p.L57I	NM_001276367.1|NM_001276368.1	NP_001263296.1|NP_001263297.1	Q5TBE3	CI153_HUMAN	chromosome 9 open reading frame 153	57										breast(1)|lung(1)	2						TTTCTAGCAAGTACTTCCTGT	0.388000													8	42					5.18039e-06	7.04806e-06	0.003080	1	0
MYO3B	140469	broad.mit.edu	37	2	171239651	171239651	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:171239651C>A	ENST00000334231.6	+	11	1164	c.1164C>A	c.(1162-1164)atC>atA	p.I388I	MYO3B_ENST00000408978.4_Silent_p.I379I|MYO3B_ENST00000409044.3_Silent_p.I379I|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	379	Myosin head-like.		N -> S (in dbSNP:rs34273653).		response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTGGAGACATCTTAATTGCCT	0.358000													28	122					4.59853e-10	7.78637e-10	0.005443	1	0
HEATR5B	54497	broad.mit.edu	37	2	37234211	37234211	+	Silent	SNP	T	T	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:37234211T>G	ENST00000233099.5	-	29	4854	c.4759A>C	c.(4759-4761)Aga>Cga	p.R1587R	HEATR5B_ENST00000354531.2_Silent_p.R1587R	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1587							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AGATGCATTCTGTCTTTGTTA	0.318000													11	75					0	0	0.008291	0	0
RYR2	6262	broad.mit.edu	37	1	237791260	237791260	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:237791260C>A	ENST00000366574.2	+	41	6637	c.6320C>A	c.(6319-6321)aCg>aAg	p.T2107K	RYR2_ENST00000542537.1_Missense_Mutation_p.T2091K|RYR2_ENST00000360064.6_Missense_Mutation_p.T2105K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2107	4 X approximate repeats.				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)			AAGACCTACACGATAAATGGT	0.547000													17	21					8.00594e-06	1.07695e-05	0.007413	1	0
UGT8	7368	broad.mit.edu	37	4	115597124	115597124	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:115597124C>G	ENST00000310836.6	+	6	1828	c.1306C>G	c.(1306-1308)Caa>Gaa	p.Q436E	UGT8_ENST00000394511.3_Missense_Mutation_p.Q436E	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	436					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TCACAAGGATCAACCTGGTCA	0.423000													28	46					0	0	0.006320	0	0
CDC7	8317	broad.mit.edu	37	1	91979585	91979585	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:91979585G>T	ENST00000428239.1	+	8	1162	c.903G>T	c.(901-903)gaG>gaT	p.E301D	CDC7_ENST00000430031.2_Missense_Mutation_p.E273D|CDC7_ENST00000234626.6_Missense_Mutation_p.E301D	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	301	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		TTTCACATGAGAGCCCTGCAG	0.363000													6	33					0.00307968	0.00346883	0.003080	1	0
GRAP2	9402	broad.mit.edu	37	22	40367030	40367030	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr22:40367030G>A	ENST00000344138.4	+	8	1198	c.935G>A	c.(934-936)cGc>cAc	p.R312H	GRAP2_ENST00000399090.2_Missense_Mutation_p.R199H|GRAP2_ENST00000540310.1_Missense_Mutation_p.R246H|GRAP2_ENST00000544756.1_Missense_Mutation_p.R240H|GRAP2_ENST00000543252.1_Missense_Mutation_p.R260H|GRAP2_ENST00000407075.3_Missense_Mutation_p.R312H	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	312	SH3 2.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TGGACCGGCCGCCTGCACAAC	0.597000													10	31					0	0	0.008291	0	0
PRPF38B	55119	broad.mit.edu	37	1	109242479	109242479	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:109242479G>T	ENST00000370021.1	+	7	1782	c.1145G>T	c.(1144-1146)aGc>aTc	p.S382I	PRPF38B_ENST00000370025.4_Missense_Mutation_p.S493I			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	493	Arg-rich.				mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		CATAGTCCCAGCAAAGAAAAA	0.383000													20	95					3.51602e-12	6.49981e-12	0.008871	1	0
FASN	2194	broad.mit.edu	37	17	80048842	80048842	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:80048842C>A	ENST00000306749.2	-	10	1814	c.1596G>T	c.(1594-1596)ctG>ctT	p.L532L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	532	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GTGACACCTTCAGGCCGAATG	0.607000													10	11					0.000442599	0.000525629	0.006214	1	0
AMDHD1	144193	broad.mit.edu	37	12	96350574	96350574	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:96350574C>A	ENST00000266736.2	+	4	527	c.421C>A	c.(421-423)Cgg>Agg	p.R141R		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	141					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CTTGCAGCAACGGCTCCAGTG	0.602000													9	42					3.09899e-07	4.51317e-07	0.004482	1	0
PPP1R26	9858	broad.mit.edu	37	9	138379037	138379037	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:138379037G>T	ENST00000356818.2	+	4	3230	c.2681G>T	c.(2680-2682)aGg>aTg	p.R894M	PPP1R26_ENST00000605660.1_Missense_Mutation_p.R894M|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R894M|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R894M|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R894M|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	894						nucleolus	protein binding										CGCAGCCAGAGGGCCAGGGGG	0.706000													4	57					2.17888e-05	2.83272e-05	0.006214	1	0
LIM2	3982	broad.mit.edu	37	19	51883799	51883799	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:51883799G>A	ENST00000221973.3	-	4	588	c.546C>T	c.(544-546)taC>taT	p.Y182Y	LIM2_ENST00000596399.1_Silent_p.Y140Y	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	140					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		AGCCCAGGATGTAGGACCAGG	0.622000													56	93					0	0	0.003610	0	0
ZBTB14	7541	broad.mit.edu	37	18	5291320	5291320	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:5291320T>C	ENST00000357006.4	-	4	1225	c.887A>G	c.(886-888)gAg>gGg	p.E296G	ZBTB14_ENST00000400143.3_Missense_Mutation_p.E296G	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		GTGGAGTTTCTCATGCTTCCT	0.478000													10	45					0	0	0.008291	0	0
FER1L6	654463	broad.mit.edu	37	8	125074093	125074093	+	Splice_Site	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:125074093G>T	ENST00000522917.1	+	25	3354	c.3147_splice	c.e25-1	p.E1050_splice	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Splice_Site_p.E1050_splice	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1050	C2 4.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTCTCTGCAGGAACTGCCTGA	0.582000													13	51					5.50884e-06	7.41685e-06	0.001368	1	0
PADI3	51702	broad.mit.edu	37	1	17597438	17597438	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:17597438C>A	ENST00000375460.3	+	8	936	c.896C>A	c.(895-897)aCg>aAg	p.T299K		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	299					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGATCATGACGCCCAGCACT	0.632000													8	53					7.48243e-07	1.06764e-06	0.006214	1	0
ACHE	43	broad.mit.edu	37	7	100491150	100491150	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:100491150G>T	ENST00000302913.4	-	2	842	c.704C>A	c.(703-705)gCg>gAg	p.A235E	ACHE_ENST00000428317.1_Missense_Mutation_p.A235E|ACHE_ENST00000241069.5_Missense_Mutation_p.A235E|ACHE_ENST00000412389.1_Missense_Mutation_p.A235E|ACHE_ENST00000411582.1_Missense_Mutation_p.A235E|ACHE_ENST00000419336.2_Missense_Mutation_p.A235E	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	235					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GGCGGCTCCCGCGCTCTCCCC	0.701000													13	40					3.27435e-08	5.02824e-08	0.002450	1	0
ALK	238	broad.mit.edu	37	2	29519873	29519873	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:29519873C>A	ENST00000389048.3	-	9	2604	c.1698G>T	c.(1696-1698)ttG>ttT	p.L566F	ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'UTR	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	566	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCACTAGCACCAAGGACACGT	0.557000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				7	35					8.12818e-05	0.000100935	0.001984	1	0
FGF18	8817	broad.mit.edu	37	5	170883654	170883654	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:170883654G>T	ENST00000274625.5	+	5	1013	c.469G>T	c.(469-471)Ggg>Tgg	p.G157W		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	157					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACCAAGAAGGGGCGGCCGCG	0.597000													13	91					5.50884e-06	7.41685e-06	0.001368	1	0
SYNGAP1	8831	broad.mit.edu	37	6	33410907	33410907	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:33410907G>C	ENST00000418600.2	+	15	2679	c.2578G>C	c.(2578-2580)Gtt>Ctt	p.V860L	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.V860L|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.V801L	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	860					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CAGCAGCAGTGTTTCGAACCT	0.627000													9	39					0	0	0.008291	0	0
ENO2	2026	broad.mit.edu	37	12	7027203	7027203	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:7027203A>C	ENST00000535366.1	+	6	1170	c.544A>C	c.(544-546)Atg>Ctg	p.M182L	ENO2_ENST00000545045.2_Intron|ENO2_ENST00000541477.1_Missense_Mutation_p.M182L|ENO2_ENST00000538763.1_Missense_Mutation_p.M139L|ENO2_ENST00000229277.1_Missense_Mutation_p.M182L|ENO2_ENST00000544774.1_Missense_Mutation_p.M139L			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	182					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TCGGGATGCCATGCGACTAGG	0.552000													10	53					0	0	0.001368	0	0
LOC645752	645752	broad.mit.edu	37	15	78208881	78208881	+	RNA	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:78208881C>T	ENST00000565869.1	+	0	18																											TTGGCGTGGGCCGAGGCGCCT	0.632000													14	51					0	0	0.003163	0	0
TCF12	6938	broad.mit.edu	37	15	57511744	57511744	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:57511744G>A	ENST00000343827.3	+	1	81	c.25G>A	c.(25-27)Gga>Aga	p.G9R	TCF12_ENST00000438423.2_Intron|TCF12_ENST00000557843.1_Intron|TCF12_ENST00000543579.1_Missense_Mutation_p.G9R|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000267811.5_Intron|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000333725.5_Intron|TCF12_ENST00000537840.1_5'UTR	NM_207040.1	NP_996923.1	Q99081	HTF4_HUMAN	transcription factor 12	0					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCCTGTCCCTGGAATGGGCAG	0.373000			T	TEC	extraskeletal myxoid chondrosarcoma								11	50					0	0	0.000978	0	0
KCTD7	154881	broad.mit.edu	37	7	66260522	66260522	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:66260522G>T	ENST00000380828.2	+	7	812	c.658G>T	c.(658-660)Gag>Tag	p.E220*	KCTD7_ENST00000510829.2_Nonsense_Mutation_p.E180*|RABGEF1_ENST00000437078.2_Nonsense_Mutation_p.E194*|RABGEF1_ENST00000439720.2_Nonsense_Mutation_p.E193*|RABGEF1_ENST00000284957.5_Nonsense_Mutation_p.E180*|RABGEF1_ENST00000450873.2_Nonsense_Mutation_p.E180*|KCTD7_ENST00000451741.2_Nonsense_Mutation_p.E180*|RABGEF1_ENST00000484547.2_3'UTR			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E180Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AGAACAGTCAGAGTGTGCTCA	0.458000													18	81					5.03518e-11	8.91503e-11	0.007413	1	0
DNER	92737	broad.mit.edu	37	2	230377606	230377606	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:230377606C>T	ENST00000341772.4	-	6	1174	c.1040G>A	c.(1039-1041)tGt>tAt	p.C347Y		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	347	EGF-like 3.				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)		GTATTCTTCACAGAAAGTACC	0.448000													16	61					0	0	0.004007	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168614	142168614	+	RNA	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:142168614G>T	ENST00000454561.2	-	0	309																											AGAGTCACTTGCTGTCCTCTC	0.532000													14	71					5.03518e-11	8.91503e-11	0.007413	1	0
FAM151B	167555	broad.mit.edu	37	5	79817825	79817825	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:79817825A>T	ENST00000282226.4	+	5	694	c.539A>T	c.(538-540)tAc>tTc	p.Y180F	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	180										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		TTTTAAGGGTACAGTTGGACA	0.313000													19	75					0	0	0.007413	0	0
PPP1R26	9858	broad.mit.edu	37	9	138379038	138379038	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:138379038G>C	ENST00000356818.2	+	4	3231	c.2682G>C	c.(2680-2682)agG>agC	p.R894S	PPP1R26_ENST00000605660.1_Missense_Mutation_p.R894S|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R894S|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R894S|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R894S|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	894						nucleolus	protein binding										GCAGCCAGAGGGCCAGGGGGG	0.706000													4	57					0	0	0.004482	0	0
ACCSL	390110	broad.mit.edu	37	11	44069900	44069900	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:44069900T>C	ENST00000378832.1	+	1	370	c.314T>C	c.(313-315)gTc>gCc	p.V105A		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	105							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AGGGGTGATGTCAGATATGGG	0.562000													12	78					0	0	0.001368	0	0
PTPN3	5774	broad.mit.edu	37	9	112199251	112199251	+	Splice_Site	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:112199251C>A	ENST00000412145.1	-	4	2748		c.e4-1		PTPN3_ENST00000262539.3_Splice_Site|PTPN3_ENST00000446349.1_Splice_Site|PTPN3_ENST00000374541.2_Splice_Site	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3						negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TTTTAGCCCACTACGGAAGAA	0.388000													10	52					1.08611e-07	1.60893e-07	0.000978	1	0
GC	2638	broad.mit.edu	37	4	72620763	72620763	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:72620763C>A	ENST00000273951.8	-	9	1439	c.1096G>T	c.(1096-1098)Gag>Tag	p.E366*	GC_ENST00000513476.1_Nonsense_Mutation_p.E366*|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Nonsense_Mutation_p.E385*	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	366	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	AGGGTTGGCTCAAGTACCTTA	0.373000													31	52					6.05902e-23	1.34251e-22	0.003755	1	0
PACSIN3	29763	broad.mit.edu	37	11	47199559	47199559	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:47199559C>T	ENST00000539589.1	-	11	1540	c.1198G>A	c.(1198-1200)Ggc>Agc	p.G400S	PACSIN3_ENST00000298838.6_Missense_Mutation_p.G400S	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	400	SH3.				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						TGGCACCAGCCCTGCTCGTCC	0.632000													6	15					0	0	0.001984	0	0
IGSF1	3547	broad.mit.edu	37	X	130410115	130410115	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:130410115G>T	ENST00000370904.1	-	21	3599	c.2689C>A	c.(2689-2691)Ctc>Atc	p.L897I	IGSF1_ENST00000370903.3_Missense_Mutation_p.L911I|IGSF1_ENST00000370910.1_Missense_Mutation_p.L897I|IGSF1_ENST00000361420.3_Missense_Mutation_p.L906I|IGSF1_ENST00000467244.1_5'UTR			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	906	Ig-like C2-type 9.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCTGCAAGAGGGCGAACCTC	0.577000													13	27					5.50884e-06	7.41685e-06	0.001368	1	0
NLRP12	91662	broad.mit.edu	37	19	54313460	54313460	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:54313460C>A	ENST00000324134.6	-	3	1621	c.1453G>T	c.(1453-1455)Ggc>Tgc	p.G485C	NLRP12_ENST00000345770.5_Missense_Mutation_p.G485C|NLRP12_ENST00000535162.1_Missense_Mutation_p.G485C|NLRP12_ENST00000351894.4_Missense_Mutation_p.G485C|NLRP12_ENST00000354278.3_Missense_Mutation_p.G485C|NLRP12_ENST00000391772.1_Missense_Mutation_p.G485C|NLRP12_ENST00000391773.1_Missense_Mutation_p.G485C|NLRP12_ENST00000391775.3_Missense_Mutation_p.G485C	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	485	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCGTCTAGGCCGTGCTTCCGG	0.542000													34	63					4.34311e-12	7.96236e-12	0.003271	1	0
TTN	7273	broad.mit.edu	37	2	179553413	179553413	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:179553413G>T	ENST00000589042.1	-	126	32412	c.32188C>A	c.(32188-32190)Cgg>Agg	p.R10730R	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.R10413R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.R9486R|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10413	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R9486R(1)		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)			CCTTCGTGCCGCGTGACTTCC	0.388000													12	73					3.27435e-08	5.02824e-08	0.002450	1	0
FBN2	2201	broad.mit.edu	37	5	127654588	127654588	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:127654588G>T	ENST00000508053.1	-	41	5551	c.4577C>A	c.(4576-4578)aCa>aAa	p.T1526K	FBN2_ENST00000262464.4_Missense_Mutation_p.T1526K			P35556	FBN2_HUMAN	fibrillin 2	1526	EGF-like 25; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTTCCCTCCTGTTCTGTCCAA	0.388000													21	102					1.64113e-05	2.14983e-05	0.010504	1	0
CLCN1	1180	broad.mit.edu	37	7	143048972	143048972	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:143048972G>C	ENST00000343257.2	+	23	2968	c.2881G>C	c.(2881-2883)Ggg>Cgg	p.G961R		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	961					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGAGAGTCCAGGGCTGGAAGA	0.637000													11	78					0	0	0.008291	0	0
NRXN3	9369	broad.mit.edu	37	14	79175639	79175639	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:79175639G>T	ENST00000554719.1	+	4	673	c.182G>T	c.(181-183)gGc>gTc	p.G61V	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.G61V	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AAAATCTATGGCGAAGTTGTG	0.473000													6	58					3.59834e-05	4.61623e-05	0.001168	1	0
SYBU	55638	broad.mit.edu	37	8	110631159	110631159	+	Silent	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:110631159T>C	ENST00000399066.3	-	2	1057	c.330A>G	c.(328-330)agA>agG	p.R110R	SYBU_ENST00000533895.1_Silent_p.R112R|SYBU_ENST00000419099.1_Silent_p.R112R|SYBU_ENST00000532779.1_Silent_p.R45R|SYBU_ENST00000440310.1_Silent_p.R113R|SYBU_ENST00000424158.2_Silent_p.R118R|SYBU_ENST00000533171.1_Silent_p.R113R|SYBU_ENST00000528647.1_Silent_p.R112R|SYBU_ENST00000276646.9_Silent_p.R113R|SYBU_ENST00000533065.1_5'UTR|SYBU_ENST00000528331.1_5'UTR|SYBU_ENST00000408908.2_Silent_p.R113R|SYBU_ENST00000433638.1_Silent_p.R113R|SYBU_ENST00000422135.1_Silent_p.R113R|SYBU_ENST00000446070.2_Silent_p.R112R|SYBU_ENST00000408889.3_5'UTR	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	113	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TGCATTTCTTTCTGGTGAAGC	0.488000													26	172					0	0	0.009535	0	0
HCN3	57657	broad.mit.edu	37	1	155253897	155253897	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:155253897G>T	ENST00000368358.3	+	3	849	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	281						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	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)			CTTCCCTCCCGACTGCTGGGT	0.572000													30	44					1.39806e-14	2.74132e-14	0.008361	1	0
POLR3A	11128	broad.mit.edu	37	10	79769727	79769727	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:79769727C>A	ENST00000372371.3	-	13	1802	c.1665G>T	c.(1663-1665)aaG>aaT	p.K555N		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	555					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AGAAAGTGTCCTTGAGAGTGA	0.403000													11	31					6.42651e-13	1.20965e-12	0.000978	1	0
POLL	27343	broad.mit.edu	37	10	103347022	103347022	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:103347022T>A	ENST00000370162.3	-	2	590	c.96A>T	c.(94-96)gaA>gaT	p.E32D	POLL_ENST00000370169.1_Missense_Mutation_p.E32D|POLL_ENST00000370172.1_Intron|POLL_ENST00000339310.3_Missense_Mutation_p.K14M|POLL_ENST00000299206.4_Missense_Mutation_p.E32D|POLL_ENST00000370158.3_Missense_Mutation_p.K16M|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000436284.2_Intron|POLL_ENST00000456836.2_Missense_Mutation_p.K14M	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	32					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CTTCTCCCTCTTCCCTCCTAG	0.488000								DNA polymerases (catalytic subunits)					31	115					0	0	0.002096	0	0
MYH13	8735	broad.mit.edu	37	17	10206728	10206728	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:10206728T>A	ENST00000418404.3	-	37	5717	c.5554A>T	c.(5554-5556)Aag>Tag	p.K1852*	MYH13_ENST00000252172.4_Nonsense_Mutation_p.K1852*|MYH13_ENST00000570743.1_Nonsense_Mutation_p.K1852*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1852					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTCATCTCCTTGACTTTGCGT	0.542000													76	82					0	0	0.003610	0	0
THY1	7070	broad.mit.edu	37	11	119290794	119290794	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:119290794G>C	ENST00000284240.5	-	3	1379	c.340C>G	c.(340-342)Ccc>Gcc	p.P114A	USP2-AS1_ENST00000530002.1_RNA|THY1_ENST00000580275.1_Missense_Mutation_p.P97A|THY1_ENST00000528522.1_Missense_Mutation_p.P114A|USP2-AS1_ENST00000500970.1_RNA|THY1_ENST00000527590.1_5'UTR|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000498979.2_RNA	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	114	Ig-like V-type.				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		GAGGAGATGGGTGGGGAATGG	0.572000													5	25					0	0	0.001168	0	0
GLIPR1L1	256710	broad.mit.edu	37	12	75741499	75741499	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:75741499C>A	ENST00000312442.2	+	3	564	c.518C>A	c.(517-519)cCt>cAt	p.P173H	CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000378695.4_Missense_Mutation_p.P173H	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	173						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						AACTACGGACCTGCGTGAGTT	0.358000													16	86					2.31682e-05	2.99949e-05	0.003163	1	0
TRAV13-2	28670	broad.mit.edu	37	14	22386400	22386400	+	RNA	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:22386400G>A	ENST00000390439.2	+	0	38																											GAGATTGCAGGTTTATGACTG	0.418000													28	87					0	0	0.007291	0	0
DCHS2	54798	broad.mit.edu	37	4	155157033	155157033	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:155157033G>A	ENST00000357232.3	-	25	7405	c.7406C>T	c.(7405-7407)cCt>cTt	p.P2469L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2469	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGAAAAGAAAGGAGATGAGGT	0.373000													29	83					0	0	0.006320	0	0
OR56A4	120793	broad.mit.edu	37	11	6024195	6024195	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:6024195C>A	ENST00000330728.4	-	1	229	c.184G>T	c.(184-186)Gcc>Tcc	p.A62S		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGACTGGGGCAGTGGAGTCA	0.502000													8	33					0.00307968	0.00346883	0.003080	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68265306	68265306	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:68265306C>G	ENST00000347230.4	-	11	1811	c.1673G>C	c.(1672-1674)aGg>aCg	p.R558T	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R558T	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	558					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGTTGACACCTGGCCAGGTA	0.443000													3	26					0	0	0.004672	0	0
PCDHA7	56141	broad.mit.edu	37	5	140216249	140216249	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:140216249G>A	ENST00000525929.1	+	1	2281	c.2281G>A	c.(2281-2283)Ggg>Agg	p.G761R	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.G761R|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGTGCTCTGGGGAGGGCCC	0.572000													4	41					0	0	0.001168	0	0
IGLV9-49	28773	broad.mit.edu	37	22	22697914	22697914	+	RNA	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr22:22697914C>T	ENST00000427632.2	+	0	239																											GTTTGTGATGCGAGTGGGCAC	0.572000											OREG0026357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	15					0	0	0.003080	0	0
CALML5	51806	broad.mit.edu	37	10	5541327	5541327	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:5541327G>T	ENST00000380332.3	-	1	206	c.75C>A	c.(73-75)aaC>aaA	p.N25K		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	25	EF-hand 1.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						TGATGGTGCCGTTTCCATCCG	0.627000													10	72					6.40141e-05	8.07202e-05	0.000978	1	0
RP11-344E13.3	0	broad.mit.edu	37	17	20805633	20805633	+	RNA	SNP	A	A	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:20805633A>G	ENST00000577537.1	+	0	817				RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA																							CCATCAGCGTAGACGACGACG	0.552000													58	130					0	0	0.003610	0	0
DMRTC2	63946	broad.mit.edu	37	19	42351661	42351661	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:42351661G>T	ENST00000269945.3	+	2	216	c.165G>T	c.(163-165)aaG>aaT	p.K55N	DMRTC2_ENST00000596827.1_Missense_Mutation_p.K55N|DMRTC2_ENST00000602098.1_3'UTR	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	55					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CCCATCTCAAGGGCCACAAGC	0.622000													24	61					1.1804e-14	2.31746e-14	0.003954	1	0
LAMB1	3912	broad.mit.edu	37	7	107591681	107591681	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:107591681C>A	ENST00000393561.1	-	22	3637	c.3453G>T	c.(3451-3453)gtG>gtT	p.V1151V	LAMB1_ENST00000222399.6_Silent_p.V1127V			P07942	LAMB1_HUMAN	laminin, beta 1	1127	Laminin EGF-like 13.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCGGCACTCCACGTCGGGGT	0.567000													11	35					4.68919e-08	7.14433e-08	0.008291	1	0
C12orf65	91574	broad.mit.edu	37	12	123738289	123738289	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr12:123738289T>C	ENST00000253233.1	+	2	712	c.68T>C	c.(67-69)cTc>cCc	p.L23P	RP11-282O18.3_ENST00000541002.3_RNA|C12orf65_ENST00000366329.2_Missense_Mutation_p.L23P|C12orf65_ENST00000429587.2_Missense_Mutation_p.L23P	NM_152269.4	NP_689482.1	Q9H3J6	CL065_HUMAN	chromosome 12 open reading frame 65	23						mitochondrion	translation release factor activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		CCATGGGGACTCCGGCTTTGG	0.557000													7	61					0	0	0.004482	0	0
PTPRT	11122	broad.mit.edu	37	20	40714388	40714388	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:40714388G>T	ENST00000373198.3	-	29	4253	c.4018C>A	c.(4018-4020)Cgc>Agc	p.R1340S	PTPRT_ENST00000373190.1_Missense_Mutation_p.R1317S|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1328S|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1308S|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1327S|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1318S|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1321S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1318	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTACAGATGCGGAATATTCTG	0.587000													12	54					3.07112e-06	4.20786e-06	0.000978	1	0
TRIP13	9319	broad.mit.edu	37	5	896838	896838	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:896838G>T	ENST00000166345.3	+	3	673	c.317G>T	c.(316-318)gGc>gTc	p.G106V		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	106					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			AATGAAGATGGCCCCAGCAGT	0.458000													43	47					1.57019e-19	3.37777e-19	0.007835	1	0
TRIO	7204	broad.mit.edu	37	5	14498735	14498735	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:14498735G>T	ENST00000344204.4	+	53	8342	c.8318G>T	c.(8317-8319)aGc>aTc	p.S2773I	TRIO_ENST00000537187.1_Missense_Mutation_p.S2597I|TRIO_ENST00000344135.5_Missense_Mutation_p.S272I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2773	Ig-like C2-type.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCGTCGGCCAGCCTGAGGGTC	0.572000													8	135					0.000274275	0.000328495	0.004482	1	0
DNAJC12	56521	broad.mit.edu	37	10	69571258	69571258	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:69571258C>A	ENST00000339758.7	-	3	405	c.321G>T	c.(319-321)acG>acT	p.T107T	DNAJC12_ENST00000225171.2_Intron|DNAJC12_ENST00000483798.2_Intron	NM_201262.1	NP_957714.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	0					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						CACAAATTCACGTCGCACCCA	0.498000													13	57					1.45105e-14	2.83806e-14	0.006122	1	0
RUNX1T1	862	broad.mit.edu	37	8	93027010	93027010	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:93027010C>T	ENST00000523629.1	-	4	719	c.265G>A	c.(265-267)Ggc>Agc	p.G89S	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.G52S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.G100S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.G62S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.G62S|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.G52S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.G52S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.G89S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.G52S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	89					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GAGGGGGCGCCATTCAAGGCT	0.512000													7	30					0	0	0.004482	0	0
LAMA2	3908	broad.mit.edu	37	6	129786390	129786390	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:129786390A>T	ENST00000421865.2	+	51	7305	c.7256A>T	c.(7255-7257)gAt>gTt	p.D2419V		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2419	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AACCATAATGATGGGAAATGG	0.388000													14	59					0	0	0.001855	0	0
ASTN2	23245	broad.mit.edu	37	9	119770524	119770524	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:119770524C>A	ENST00000313400.4	-	7	1538	c.1438G>T	c.(1438-1440)Gtg>Ttg	p.V480L	ASTN2_ENST00000373996.3_Missense_Mutation_p.V480L|ASTN2_ENST00000361209.2_Missense_Mutation_p.V429L|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	480						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCTTCACTCACCACGAAGCTG	0.498000													8	33					0.000274275	0.000328495	0.004482	1	0
KMT2C	58508	broad.mit.edu	37	7	152055725	152055725	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:152055725T>A	ENST00000355193.2	-	2	415	c.197A>T	c.(196-198)gAg>gTg	p.E66V	KMT2C_ENST00000262189.6_Missense_Mutation_p.E66V					lysine (K)-specific methyltransferase 2C																		CATGCTGTCCTCATCTTCCAC	0.348000													55	185					0	0	0.003610	0	0
OR8D1	283159	broad.mit.edu	37	11	124180513	124180513	+	Silent	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:124180513T>A	ENST00000357821.2	-	1	220	c.150A>T	c.(148-150)gcA>gcT	p.A50A		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GAGGGCTGACTGCAATCAGGA	0.507000													15	82					0	0	0.004990	0	0
STAG3L1	54441	broad.mit.edu	37	7	75023458	75023458	+	RNA	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:75023458G>T	ENST00000402225.5	+	0	811				AC006014.8_ENST00000275590.5_RNA			P0CL83	ST3L1_HUMAN								nucleus	binding										CCTGCGCTCTGAGCAGTCTTC	0.483000													7	12					0.00198382	0.00225084	0.001984	1	0
NXF3	56000	broad.mit.edu	37	X	102339804	102339804	+	Silent	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chrX:102339804A>T	ENST00000395065.3	-	2	137	c.36T>A	c.(34-36)acT>acA	p.T12T	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Intron	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	12						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CAACTTGATCAGTGTGACCTT	0.343000													30	63					0	0	0.002096	0	0
CREBRF	153222	broad.mit.edu	37	5	172513541	172513541	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:172513541C>T	ENST00000540014.1	+	3	366	c.47C>T	c.(46-48)gCc>gTc	p.A16V	CREBRF_ENST00000520420.1_Missense_Mutation_p.A16V|CREBRF_ENST00000522692.1_Missense_Mutation_p.A16V|CREBRF_ENST00000296953.2_Missense_Mutation_p.A16V			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	16							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										TTCGGGGATGCCTTTCGAAGC	0.403000													28	132					0	0	0.007291	0	0
BMP2K	55589	broad.mit.edu	37	4	79799977	79799977	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:79799977G>T	ENST00000335016.5	+	14	2049	c.1883G>T	c.(1882-1884)gGa>gTa	p.G628V	BMP2K_ENST00000502871.1_Missense_Mutation_p.G628V	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	628						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AATCCTTTTGGAGAGGATAAT	0.378000													32	60					8.88839e-20	1.92004e-19	0.002096	1	0
GRIK5	2901	broad.mit.edu	37	19	42509975	42509975	+	Silent	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:42509975G>T	ENST00000262895.3	-	16	2162	c.2163C>A	c.(2161-2163)ctC>ctA	p.L721L	GRIK5_ENST00000301218.4_Silent_p.L721L|GRIK5_ENST00000593562.1_Silent_p.L721L	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	721						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TGGTGGACTCGAGCAGGAAGG	0.607000													5	14					2.7689e-08	4.28599e-08	0.001984	1	0
RP11-344E13.3	0	broad.mit.edu	37	17	20805632	20805632	+	RNA	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:20805632T>A	ENST00000577537.1	+	0	816				RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA																							GCCATCAGCGTAGACGACGAC	0.552000													58	130					0	0	0.003610	0	0
GPR114	221188	broad.mit.edu	37	16	57597775	57597775	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:57597775G>T	ENST00000340339.4	+	5	836	c.313G>T	c.(313-315)Gcc>Tcc	p.A105S	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.A105S	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	105					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						AGGTCAGCATGCCCGGGGTCA	0.642000													11	48					0.000673444	0.000787716	0.008291	1	0
SMC3	9126	broad.mit.edu	37	10	112328695	112328695	+	Splice_Site	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:112328695G>T	ENST00000361804.4	+	2	141		c.e2-1		SMC3_ENST00000462899.1_Splice_Site	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3						cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TTATTTACTAGGTGATTATCC	0.308000													8	59					3.09899e-07	4.51317e-07	0.004482	1	0
DUOX2	50506	broad.mit.edu	37	15	45402679	45402679	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:45402679C>A	ENST00000389039.6	-	9	1372	c.987G>T	c.(985-987)gtG>gtT	p.V329V	DUOX2_ENST00000603300.1_Silent_p.V329V			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	329	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAGAGGCCACCACAAATTCCG	0.577000													5	23					0.000602214	0.000709753	0.000602	1	0
SLIT3	6586	broad.mit.edu	37	5	168175409	168175409	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:168175409G>T	ENST00000519560.1	-	20	2587	c.2168C>A	c.(2167-2169)cCg>cAg	p.P723Q	SLIT3_ENST00000332966.8_Missense_Mutation_p.P723Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.P723Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	723	LRRNT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGGCAGCGCGGGCTCAGCTG	0.647000													6	42					5.9392e-07	8.52935e-07	0.001168	1	0
GPR115	221393	broad.mit.edu	37	6	47682674	47682674	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:47682674C>G	ENST00000283303.2	+	6	1951	c.1693C>G	c.(1693-1695)Ccg>Gcg	p.P565A	GPR115_ENST00000327753.3_Missense_Mutation_p.P565A|GPR115_ENST00000371220.1_Missense_Mutation_p.P622A	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	565					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ATTTGCCATCCCGGCGTTCGT	0.488000													16	113					0	0	0.003163	0	0
ENPP3	5169	broad.mit.edu	37	6	132043462	132043462	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:132043462G>T	ENST00000414305.1	+	19	1991	c.1663G>T	c.(1663-1665)Gag>Tag	p.E555*	ENPP3_ENST00000357639.3_Nonsense_Mutation_p.E555*|ENPP3_ENST00000358229.5_Nonsense_Mutation_p.E555*			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	555					immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CCATGCAGAGGAGGTGTCAAA	0.428000													12	97					5.16669e-11	9.09595e-11	0.000978	1	0
GLYAT	10249	broad.mit.edu	37	11	58491927	58491927	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:58491927C>A	ENST00000344743.3	-	2	184	c.43G>T	c.(43-45)Gag>Tag	p.E15*	GLYAT_ENST00000529732.1_Nonsense_Mutation_p.E15*|GLYAT_ENST00000278400.3_Nonsense_Mutation_p.E15*	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	15					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	AAGGATTTCTCCAGCATCTGC	0.438000													18	103					9.95505e-16	2.02363e-15	0.002299	1	0
OR51B5	282763	broad.mit.edu	37	11	5363819	5363819	+	Silent	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:5363819G>A	ENST00000300773.2	-	1	990	c.936C>T	c.(934-936)acC>acT	p.T312T	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGGAGATCAGGTTCCAATTC	0.383000													9	47					0	0	0.004482	0	0
SCUBE1	80274	broad.mit.edu	37	22	43658774	43658774	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr22:43658774C>A	ENST00000360835.3	-	5	688	c.562G>T	c.(562-564)Gac>Tac	p.D188Y	SCUBE1_ENST00000290460.7_Missense_Mutation_p.D188Y	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	188	EGF-like 4 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GGCCTGCAGTCGCAGGCCACC	0.572000													17	45					3.99206e-14	7.72994e-14	0.007413	1	0
FCN2	2220	broad.mit.edu	37	9	137778410	137778410	+	Splice_Site	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr9:137778410G>T	ENST00000350339.2	+	6	594	c.580_splice	c.e6+1	p.G194_splice	FCN2_ENST00000291744.6_Splice_Site_p.G232_splice	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	232	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GGGCAGTGCGGGTGAGTGTCT	0.587000													8	58					1.12685e-05	1.49636e-05	0.004482	1	0
ADAM23	8745	broad.mit.edu	37	2	207457460	207457460	+	Splice_Site	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:207457460G>C	ENST00000264377.3	+	22	2406	c.2078_splice	c.e22+1	p.S693_splice	ADAM23_ENST00000374416.1_Splice_Site_p.S693_splice|ADAM23_ENST00000374415.3_Splice_Site_p.S693_splice	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	693					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		ATTGACTGCAGGTAACATATT	0.348000													16	75					0	0	0.004007	0	0
OR10J5	127385	broad.mit.edu	37	1	159505017	159505017	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:159505017G>C	ENST00000334857.2	-	1	825	c.781C>G	c.(781-783)Ccg>Gcg	p.P261A		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TCTGACTTCGGCTTGAGGTAG	0.498000													5	71					0	0	0.000602	0	0
MAP3K5	4217	broad.mit.edu	37	6	136904770	136904770	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr6:136904770T>A	ENST00000359015.4	-	24	3694	c.3334A>T	c.(3334-3336)Aag>Tag	p.K1112*	MAP3K5_ENST00000463140.1_5'UTR|MAP3K5_ENST00000355845.4_Nonsense_Mutation_p.K359*	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1112					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGTTTCAGCTTTGACAGTGTG	0.448000													16	61					0	0	0.006122	0	0
NOM1	64434	broad.mit.edu	37	7	156752576	156752576	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:156752576G>T	ENST00000275820.3	+	4	1355	c.1340G>T	c.(1339-1341)aGg>aTg	p.R447M	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	447	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GCAGTGGTGAGGAAGTTCGAT	0.448000													12	46					1.05317e-09	1.7602e-09	0.002450	1	0
C7	730	broad.mit.edu	37	5	40976867	40976867	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:40976867A>T	ENST00000313164.9	+	16	2449	c.2090A>T	c.(2089-2091)cAg>cTg	p.Q697L	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	697	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CCGTTAACACAGGCAGTGCCT	0.428000													4	11					0	0	0.000602	0	0
WNT2	7472	broad.mit.edu	37	7	116963068	116963068	+	Translation_Start_Site	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:116963068G>T	ENST00000265441.3	-	0	275					NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2						atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GTCTGCATCAGGTCAGACTCC	0.682000													4	23					0.00024832	0.000300425	0.009096	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76513394	76513394	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:76513394G>A	ENST00000307431.8	+	13	2223	c.1838G>A	c.(1837-1839)aGt>aAt	p.S613N	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S617N|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S565N|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S541N	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	614	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TCAGATGGAAGTGGTCCCCTG	0.338000													20	134					0	0	0.002299	0	0
MYOM2	9172	broad.mit.edu	37	8	2056601	2056601	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:2056601G>A	ENST00000262113.4	+	24	3164	c.3023G>A	c.(3022-3024)aGc>aAc	p.S1008N	MYOM2_ENST00000523438.1_Missense_Mutation_p.S433N	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1008					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATGGCATTGAGCAATGAAATA	0.478000													3	64					0	0	0.004672	0	0
MYH1	4619	broad.mit.edu	37	17	10417404	10417404	+	Missense_Mutation	SNP	G	G	T	rs144345763	byFrequency	TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:10417404G>T	ENST00000226207.5	-	7	665	c.571C>A	c.(571-573)Cgt>Agt	p.R191S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	191	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGATGACACGCTTGGTGTTC	0.433000													43	50					2.65591e-33	6.05782e-33	0.003610	1	0
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58094828	58094828	+	RNA	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:58094828C>A	ENST00000407042.3	-	0	143																											CTCTTGTGCCCACCAACTACC	0.532000													93	146					1.38722e-55	3.25012e-55	0.003610	1	0
PTPRE	5791	broad.mit.edu	37	10	129846028	129846028	+	Splice_Site	SNP	G	G	C			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:129846028G>C	ENST00000254667.3	+	5	489	c.209_splice	c.e5-1	p.R70_splice	PTPRE_ENST00000306042.5_Splice_Site_p.W12_splice|PTPRE_ENST00000471218.1_Splice_Site_p.R70_splice|PTPRE_ENST00000430713.2_Splice_Site_p.R70_splice|PTPRE_ENST00000419012.2_Splice_Site_p.R70_splice	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	70					negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TGTCTCTAAGGTTCAGGAAGC	0.562000													6	49					0	0	0.001168	0	0
PKP4	8502	broad.mit.edu	37	2	159481810	159481810	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:159481810G>T	ENST00000389757.3	+	7	1149	c.1024G>T	c.(1024-1026)Ggg>Tgg	p.G342W	PKP4_ENST00000389759.3_Missense_Mutation_p.G342W	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	342					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CAAACGCTCAGGGATGACCGC	0.577000										HNSCC(62;0.18)			6	42					8.12818e-05	0.000100935	0.001984	1	0
OPRL1	4987	broad.mit.edu	37	20	62729490	62729490	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr20:62729490C>A	ENST00000349451.3	+	5	981	c.569C>A	c.(568-570)tCg>tAg	p.S190*	OPRL1_ENST00000355631.4_Nonsense_Mutation_p.S190*|OPRL1_ENST00000336866.2_Nonsense_Mutation_p.S190*	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	190					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					ATCATGGGCTCGGCACAGGTC	0.672000													7	35					1.12685e-05	1.49636e-05	0.004482	1	0
PALD1	27143	broad.mit.edu	37	10	72299377	72299377	+	Silent	SNP	C	C	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:72299377C>A	ENST00000263563.6	+	15	2035	c.1767C>A	c.(1765-1767)ccC>ccA	p.P589P		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		GCGAGCCTCCCCCAGGCAAGG	0.662000													7	40					0.00198382	0.00225084	0.001984	1	0
MALT1	10892	broad.mit.edu	37	18	56390327	56390327	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr18:56390327C>T	ENST00000348428.3	+	10	1324	c.1066C>T	c.(1066-1068)Cac>Tac	p.H356Y	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.H345Y	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	356	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TTACCGGGAGCACCCCAAGCT	0.388000			T	BIRC3	MALT								19	62					0	0	0.010504	0	0
PCDHA3	56145	broad.mit.edu	37	5	140180926	140180926	+	Silent	SNP	C	C	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:140180926C>T	ENST00000522353.2	+	1	144	c.144C>T	c.(142-144)atC>atT	p.I48I	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.I48I|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCCGCATCGCGCAGGACC	0.647000													17	102					0	0	0.004007	0	0
SLC16A4	9122	broad.mit.edu	37	1	110906426	110906427	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:110906426_110906427insA	ENST00000369779.4	-	9	1674_1675	c.1425_1426insT	c.(1423-1428)tttaccfs	p.T476fs	SLC16A4_ENST00000541986.1_Frame_Shift_Ins_p.T414fs|SLC16A4_ENST00000369781.4_Frame_Shift_Ins_p.T308fs|SLC16A4_ENST00000437429.2_Frame_Shift_Ins_p.L372fs|SLC16A4_ENST00000472422.2_Frame_Shift_Ins_p.T428fs	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	476						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	p.F475fs*12(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GCCAATGGTACAAAAAAAAAGG	0.391													8	112	---	---	---	---					
GDAP2	54834	broad.mit.edu	37	1	118441740	118441740	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:118441740delT	ENST00000369443.4	-	7	984	c.735delA	c.(733-735)gafs	p.E245fs	GDAP2_ENST00000464026.1_5'UTR|GDAP2_ENST00000369442.3_Frame_Shift_Del_p.E245fs	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	245										kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		CAGGCTCCCCTTCTGCATTTC	0.443													39	186	---	---	---	---					
HRNR	388697	broad.mit.edu	37	1	152187133	152187133	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:152187133delC	ENST00000368801.2	-	3	7047	c.6972delG	c.(6970-6972)tgfs	p.W2324fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2324					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGGAAGACCAACCGGAGC	0.597													14	109	---	---	---	---					
NPR1	4881	broad.mit.edu	37	1	153656286	153656288	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr1:153656286_153656288delCTT	ENST00000368680.3	+	7	1942_1944	c.1470_1472delCTT	c.(1468-1473)tcc>tc	p.SF490del		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	490					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TGATTGTCTCCTTCTTCATATAC	0.576													8	129	---	---	---	---					
CPS1	1373	broad.mit.edu	37	2	211542649	211542650	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr2:211542649_211542650insA	ENST00000233072.5	+	38	4639_4640	c.4443_4444insA	c.(4441-4446)cgaggtfs	p.G1482fs	CPS1_ENST00000451903.2_Frame_Shift_Ins_p.G1031fs|CPS1_ENST00000430249.2_Frame_Shift_Ins_p.G1488fs	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1482					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.R1481R(1)|p.R1487R(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AGAAATCTCGCAAGGTGGACTC	0.431													71	379	---	---	---	---					
CD80	941	broad.mit.edu	37	3	119248751	119248751	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:119248751delG	ENST00000264246.3	-	5	1096	c.734delC	c.(733-735)cafs	p.P245fs	CD80_ENST00000478182.1_Frame_Shift_Del_p.P245fs|CD80_ENST00000383668.3_Intron|CD80_ENST00000383669.3_Intron	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	245					interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	GGCCCAGGATGGGAGCAGGTT	0.413													35	85	---	---	---	---					
ZNF148	7707	broad.mit.edu	37	3	124951844	124951851	+	Frame_Shift_Del	DEL	AAGAATTT	AAGAATTT	-			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr3:124951844_124951851delAAGAATTT	ENST00000360647.4	-	9	2204_2211	c.1719_1726delAAATTCTT	c.(1717-1728)atcafs	p.INSS573fs	SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Frame_Shift_Del_p.INSS573fs|ZNF148_ENST00000484491.1_Frame_Shift_Del_p.INSS573fs|ZNF148_ENST00000485866.1_Frame_Shift_Del_p.INSS573fs|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	573					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						GGTACTTCTGAAGAATTTATTGATATGC	0.423													15	120	---	---	---	---					
TLR10	81793	broad.mit.edu	37	4	38775478	38775478	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:38775478delC	ENST00000308973.4	-	4	2339	c.1734delG	c.(1732-1734)ctfs	p.L579fs	TLR10_ENST00000361424.2_Frame_Shift_Del_p.L579fs|TLR10_ENST00000508334.1_Frame_Shift_Del_p.L579fs|TLR10_ENST00000506111.1_Frame_Shift_Del_p.L579fs	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	579					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TGACAATCAACAGAGCTGTGT	0.453													41	76	---	---	---	---					
RXFP1	59350	broad.mit.edu	37	4	159568059	159568059	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr4:159568059delG	ENST00000307765.5	+	16	1713	c.1462delG	c.(1462-1464)tafs	p.V488fs	RXFP1_ENST00000460056.2_Frame_Shift_Del_p.V407fs|RXFP1_ENST00000448688.2_Frame_Shift_Del_p.V383fs|RXFP1_ENST00000470033.1_Frame_Shift_Del_p.V455fs|RXFP1_ENST00000343542.5_Frame_Shift_Del_p.V440fs	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	488						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TTGTCAGCTTGTAGGATCTTT	0.393													28	78	---	---	---	---					
BRD9	65980	broad.mit.edu	37	5	889153	889163	+	Frame_Shift_Del	DEL	ACTTGTATTCA	ACTTGTATTCA	-			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:889153_889163delACTTGTATTCA	ENST00000323510.4	-	2	230_240	c.231_241delTGAATACAAGT	c.(229-243)aacafs	p.NEYKS77fs	BRD9_ENST00000388890.4_Frame_Shift_Del_p.NEYKS77fs|BRD9_ENST00000467963.1_Frame_Shift_Del_p.NEYKS193fs|BRD9_ENST00000483173.1_Frame_Shift_Del_p.NEYKS140fs|BRD9_ENST00000435709.2_Frame_Shift_Del_p.NEYKS77fs			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	193	Lys-rich.						nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TCCGTAACTGACTTGTATTCATTAGCTACAA	0.365													24	51	---	---	---	---					
SEMA5A	9037	broad.mit.edu	37	5	9066597	9066598	+	Frame_Shift_Ins	INS	-	-	A	rs144501622		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:9066597_9066598insA	ENST00000382496.5	-	17	2899_2900	c.2234_2235insT	c.(2233-2235)gggfs	p.G745fs		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	745	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCTGTCTTCCCACTTCCAGCAA	0.550													132	193	---	---	---	---					
IQGAP2	10788	broad.mit.edu	37	5	75893300	75893301	+	Frame_Shift_Ins	INS	-	-	A	rs141913830		TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr5:75893300_75893301insA	ENST00000274364.6	+	10	1241_1242	c.944_945insA	c.(943-945)cgafs	p.R315fs	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	315					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GCTGTCATTCCGGAAGGTGACC	0.520													8	38	---	---	---	---					
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													4	6	---	---	---	---					
ZNF783	100289678	broad.mit.edu	37	7	148978785	148978786	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:148978785_148978786insT	ENST00000434415.1	+	6	1155_1156	c.992_993insT	c.(991-993)cggfs	p.R331fs	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	331					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CCACGGCCACCGGGGGCCAGTG	0.718													10	15	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151860287	151860288	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr7:151860287_151860288insT	ENST00000355193.2	-	43	10592_10593	c.10374_10375insA	c.(10372-10377)ttcttgfs	p.F3458fs	KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.F3458fs					lysine (K)-specific methyltransferase 2C																		AAATCACAAGGTAAGTCGGAAC	0.475													54	229	---	---	---	---					
ZNF705G	100131980	broad.mit.edu	37	8	7215959	7215960	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:7215959_7215960insT	ENST00000400156.4	-	7	722_723	c.441_442insA	c.(439-444)aaagtgfs	p.V148fs	ZNF705G_ENST00000400078.2_Frame_Shift_Ins_p.V148fs			A8MUZ8	Z705G_HUMAN	zinc finger protein 705G	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(9)	9						TTTCCACACTGTTTGCTGACAT	0.366													26	140	---	---	---	---					
KLHL38	340359	broad.mit.edu	37	8	124663858	124663859	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr8:124663858_124663859insA	ENST00000325995.7	-	1	1331_1332	c.1308_1309insT	c.(1306-1311)ttgaggfs	p.LR436fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	436										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TCCTCTCCTCCAAAGAGATAGA	0.545													16	107	---	---	---	---					
GPR158	57512	broad.mit.edu	37	10	25887915	25887916	+	Frame_Shift_Ins	INS	-	-	C	rs147989919	byFrequency	TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:25887915_25887916insC	ENST00000376351.3	+	11	3719_3720	c.3360_3361insC	c.(3358-3363)ctccccfs	p.LP1120fs	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1120						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCGAAGAACTGCCCCCCAAAGC	0.485													17	65	---	---	---	---					
TET1	80312	broad.mit.edu	37	10	70404767	70404767	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:70404767delA	ENST00000373644.4	+	4	2490	c.2281delA	c.(2281-2283)aafs	p.K761fs		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	761					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAATGGCATTAAACATGTACA	0.318													11	46	---	---	---	---					
SEC23IP	11196	broad.mit.edu	37	10	121671596	121671596	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr10:121671596delG	ENST00000369075.3	+	6	1304	c.1232delG	c.(1231-1233)tgfs	p.W411fs	SEC23IP_ENST00000543134.1_Frame_Shift_Del_p.W200fs	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	411					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CCAGATGAATGGGGCACCACG	0.438													27	115	---	---	---	---					
ANO3	63982	broad.mit.edu	37	11	26669355	26669355	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:26669355delA	ENST00000256737.3	+	24	3380	c.2528delA	c.(2527-2529)ttfs	p.Y843fs	ANO3_ENST00000531568.1_Frame_Shift_Del_p.Y697fs|ANO3_ENST00000525139.1_Frame_Shift_Del_p.Y827fs|ANO3_ENST00000537978.1_Frame_Shift_Del_p.Y827fs	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	843						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CGTTTTGTTTATGAATACAAA	0.333													8	81	---	---	---	---					
OR4A5	81318	broad.mit.edu	37	11	51412109	51412110	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:51412109_51412110insT	ENST00000319760.6	-	1	338_339	c.286_287insA	c.(286-288)gggfs	p.G96fs		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TAGCTGGCCCATGCAACCTTGG	0.450													7	63	---	---	---	---					
OR4D6	219983	broad.mit.edu	37	11	59224758	59224758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:59224758delG	ENST00000300127.2	+	1	348	c.325delG	c.(325-327)ggfs	p.G109fs		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CTTTGCTGGTGGGGCAGATAT	0.473													17	124	---	---	---	---					
SLC37A2	219855	broad.mit.edu	37	11	124949013	124949013	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr11:124949013delT	ENST00000403796.2	+	5	621	c.320delT	c.(319-321)gtfs	p.V107fs	SLC37A2_ENST00000407458.1_Frame_Shift_Del_p.V107fs|SLC37A2_ENST00000298280.5_Frame_Shift_Del_p.V107fs|SLC37A2_ENST00000308074.4_Frame_Shift_Del_p.V107fs	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	107					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		CCCAGTGGGGTTTTTGGGGAG	0.552													41	185	---	---	---	---					
FGF14	2259	broad.mit.edu	37	13	102379118	102379118	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr13:102379118delC	ENST00000376131.4	-	4	561	c.466delG	c.(466-468)aafs	p.E156fs	FGF14_ENST00000376143.4_Frame_Shift_Del_p.E151fs	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	151					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAATAATTTTCAAAAACAGAT	0.358													13	68	---	---	---	---					
APEX1	328	broad.mit.edu	37	14	20925323	20925324	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:20925323_20925324insT	ENST00000216714.3	+	5	881_882	c.613_614insT	c.(613-615)tgtfs	p.C205fs	APEX1_ENST00000557365.1_3'UTR|APEX1_ENST00000555414.1_Frame_Shift_Ins_p.C205fs|APEX1_ENST00000557054.1_3'UTR|APEX1_ENST00000398030.4_Frame_Shift_Ins_p.C205fs	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	205					base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	CCGAAAGCCCCTTGTGCTGTGT	0.554								Other BER factors					8	39	---	---	---	---					
WDHD1	11169	broad.mit.edu	37	14	55477055	55477055	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr14:55477055delC	ENST00000360586.3	-	4	378	c.313delG	c.(313-315)atfs	p.D105fs	WDHD1_ENST00000420358.2_5'UTR|WDHD1_ENST00000421192.1_5'UTR	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	105						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TTAGTACCATCCCCATTAAAG	0.373													27	195	---	---	---	---					
ADAMTSL3	57188	broad.mit.edu	37	15	84651166	84651166	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr15:84651166delC	ENST00000286744.5	+	21	3010	c.2786delC	c.(2785-2787)tcfs	p.S929fs	ADAMTSL3_ENST00000567476.1_Frame_Shift_Del_p.S929fs	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	929	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.S929F(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCCAACACATCCGTGATTATT	0.517													27	95	---	---	---	---					
ERN2	10595	broad.mit.edu	37	16	23721536	23721536	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:23721536delC	ENST00000256797.4	-	4	575	c.407delG	c.(406-408)gcfs	p.G136fs	ERN2_ENST00000457008.2_Frame_Shift_Del_p.G88fs	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	88					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GTACAGGCTGCCATCTGCTGG	0.522													11	56	---	---	---	---					
PKD1L2	114780	broad.mit.edu	37	16	81249875	81249876	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr16:81249875_81249876insT	ENST00000599697.1	-	2	436_437	c.437_438insA	c.(436-438)cacfs	p.H146fs	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	146	C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGGCGAAGGTCTGGGCGCAGTC	0.668													12	69	---	---	---	---					
TSPAN10	83882	broad.mit.edu	37	17	79612387	79612388	+	RNA	INS	-	-	T			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr17:79612387_79612388insT	ENST00000328585.4	+	0	496_497				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CGCAGTGAGCCTGGCTGGCTAC	0.683													9	24	---	---	---	---					
MKNK2	2872	broad.mit.edu	37	19	2039657	2039657	+	Frame_Shift_Del	DEL	G	G	-	rs143409655	byFrequency	TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr19:2039657delG	ENST00000250896.3	-	14	1597	c.1353delC	c.(1351-1353)gcfs	p.A451fs	MKNK2_ENST00000591601.1_Frame_Shift_Del_p.A451fs|MKNK2_ENST00000309340.7_Intron|MKNK2_ENST00000591142.1_Intron|MKNK2_ENST00000541165.1_Frame_Shift_Del_p.A320fs	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	451					cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGACAGACTGGCCCTTTGCC	0.667													11	17	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11038982	11038982	+	RNA	DEL	A	A	-			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr21:11038982delA	ENST00000470054.1	-	0	1221									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGATAACTTTATAGATTTGCC	0.403													19	539	---	---	---	---					
RPL10P1	100288252	broad.mit.edu	37	21	28793198	28793198	+	RNA	DEL	A	A	-			TCGA-50-5930-01A-11D-1753-08	TCGA-50-5930-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd3e88b3-b37c-4641-85fa-d8125ba324ca	99a809f8-c87d-4d0a-a5d5-29918228b48f	g.chr21:28793198delA	ENST00000420186.2	-	0	202																											ATGTGGCCATAAAGCGGAAAC	0.498													20	43	---	---	---	---