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
GLP2R	9340	broad.mit.edu	37	17	9792853	9792853	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr17:9792853A>G	ENST00000262441.5	+	13	2006	c.1493A>G	c.(1492-1494)aAc>aGc	p.N498S	GLP2R_ENST00000574745.1_Missense_Mutation_p.N318S	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	498					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.N498S(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CCCTCACTTAACAGTGGGCGG	0.622000													8	50					0	0	0.006214	0	0
C3orf14	57415	broad.mit.edu	37	3	62317051	62317051	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr3:62317051C>T	ENST00000494481.1	+	5	543	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	C3orf14_ENST00000462069.1_Missense_Mutation_p.R77W|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000542214.1_Missense_Mutation_p.R77W|C3orf14_ENST00000232519.5_Missense_Mutation_p.R77W			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	77								p.R77W(1)		central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		CCCACTTCCACGGCCTGAGGT	0.388000													30	142					0	0	0.003755	0	0
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs137860963	by1000genomes	TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289000													5	59					0	0	0.000602	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136323143	136323143	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr9:136323143C>G	ENST00000371929.3	+	28	4448	c.4004C>G	c.(4003-4005)gCa>gGa	p.A1335G	ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A1248G|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A1279G|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.A131G	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1335	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	p.A1335G(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCTCCGCACGCACGGATTGCC	0.622000													4	33					0	0	0.009096	0	0
USH2A	7399	broad.mit.edu	37	1	215956216	215956216	+	Silent	SNP	C	C	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:215956216C>T	ENST00000366943.2	-	53	10835	c.10449G>A	c.(10447-10449)ggG>ggA	p.G3483G	USH2A_ENST00000307340.3_Silent_p.G3483G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3483	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G3483G(1)		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)		TGAGTCCTCGCCCATAGCTGT	0.443000										HNSCC(13;0.011)			8	68					0	0	0.004482	0	0
LPCAT4	254531	broad.mit.edu	37	15	34653713	34653713	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr15:34653713T>C	ENST00000314891.6	-	11	1208	c.1031A>G	c.(1030-1032)gAc>gGc	p.D344G		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	344					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding	p.D344G(1)		NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						TGCCCCAGCGTCCACATAGCC	0.577000													7	41					0	0	0.004482	0	0
ATXN1	6310	broad.mit.edu	37	6	16327605	16327605	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr6:16327605G>A	ENST00000244769.4	-	8	1873	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W	ATXN1_ENST00000436367.1_Missense_Mutation_p.R313W	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	313					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.R313W(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TGCTGCAGCCGGCTGCTCTCA	0.677000													16	77					0	0	0.006122	0	0
VANGL1	81839	broad.mit.edu	37	1	116233804	116233804	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:116233804C>T	ENST00000355485.2	+	8	1650	c.1379C>T	c.(1378-1380)tCt>tTt	p.S460F	VANGL1_ENST00000369509.1_Missense_Mutation_p.S460F|VANGL1_ENST00000369510.3_Missense_Mutation_p.S458F|VANGL1_ENST00000310260.3_Missense_Mutation_p.S460F	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	460					multicellular organismal development	integral to membrane	protein binding	p.S460F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CGCTGGCTCTCTACACAGTGG	0.522000													15	38					0	0	0.002450	0	0
PREX1	57580	broad.mit.edu	37	20	47296209	47296209	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr20:47296209G>C	ENST00000396220.1	-	12	1541	c.1519C>G	c.(1519-1521)Ctg>Gtg	p.L507V	PREX1_ENST00000371941.3_Missense_Mutation_p.L507V			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	507					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.L507V(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ATGTCCTCCAGCTCACTTCGG	0.592000													25	70					0	0	0.007291	0	0
KAT6B	23522	broad.mit.edu	37	10	76790413	76790413	+	Missense_Mutation	SNP	A	A	G	rs143966521		TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr10:76790413A>G	ENST00000287239.4	+	18	6320	c.5831A>G	c.(5830-5832)tAt>tGt	p.Y1944C	KAT6B_ENST00000372725.1_Missense_Mutation_p.Y1652C|KAT6B_ENST00000372724.1_Missense_Mutation_p.Y1652C|KAT6B_ENST00000372711.1_Missense_Mutation_p.Y1761C|KAT6B_ENST00000372714.1_Missense_Mutation_p.Y1652C	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1944	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	p.Y1944C(1)									TCACAAATCTATGGGCGCTCC	0.552000													21	107					0	0	0.012319	0	0
ARMC4	55130	broad.mit.edu	37	10	28233185	28233185	+	Missense_Mutation	SNP	C	C	T	rs140569195	byFrequency	TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr10:28233185C>T	ENST00000305242.5	-	12	1801	c.1709G>A	c.(1708-1710)cGg>cAg	p.R570Q	ARMC4_ENST00000545014.1_Missense_Mutation_p.R95Q|ARMC4_ENST00000537576.1_Missense_Mutation_p.R262Q	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	570							binding	p.R570Q(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CCTCACCACCCGCCGTGCTCT	0.498000													12	36					0	0	0.013537	0	0
PLXNA4	91584	broad.mit.edu	37	7	131859563	131859563	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr7:131859563C>A	ENST00000359827.3	-	21	4953	c.3991G>T	c.(3991-3993)Gac>Tac	p.D1331Y	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D1331Y			Q9HCM2	PLXA4_HUMAN	plexin A4	1331						integral to membrane|intracellular|plasma membrane		p.D1331Y(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACAGGGTGGTCTTCAATTCCT	0.557000													34	64					1.04352e-10	2.25226e-10	0.003755	1	0
SPEF2	79925	broad.mit.edu	37	5	35740120	35740120	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr5:35740120A>G	ENST00000440995.2	+	22	3148	c.3148A>G	c.(3148-3150)Act>Gct	p.T1050A	SPEF2_ENST00000356031.3_Missense_Mutation_p.T1055A|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1055					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.T1055A(1)		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)			AGACCAGCATACTGTGCTTGC	0.333000													16	83					0	0	0.004990	0	0
PDE6A	5145	broad.mit.edu	37	5	149286942	149286942	+	Splice_Site	SNP	C	C	G			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr5:149286942C>G	ENST00000255266.5	-	7	1118		c.e7-1			NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha						cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGGTGGATTCCTGTGAAGGCC	0.498000													11	71					0	0	0.008291	0	0
GNL2	29889	broad.mit.edu	37	1	38059394	38059394	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:38059394G>A	ENST00000373062.3	-	2	216	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	40					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	p.R40C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				ATATTCAGGCGCCGGATGGTG	0.512000													6	136					0	0	0.003080	0	0
TRMT13	54482	broad.mit.edu	37	1	100614308	100614308	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:100614308G>T	ENST00000370141.2	+	11	1384	c.1378G>T	c.(1378-1380)Gtg>Ttg	p.V460L		NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)									p.V460L(1)									AGACCCTCTGGTGTCTTTGGA	0.393000													7	45					8.12818e-05	0.000137595	0.001984	1	0
WDR33	55339	broad.mit.edu	37	2	128481960	128481960	+	Silent	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr2:128481960C>A	ENST00000322313.4	-	11	1301	c.1143G>T	c.(1141-1143)ctG>ctT	p.L381L		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	381					postreplication repair|spermatogenesis	collagen|nucleus	protein binding	p.L381L(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GATGCCAAGCCAGACTCCAGA	0.448000													13	87					1.5842e-08	3.13212e-08	0.001855	1	0
OR10G2	26534	broad.mit.edu	37	14	22102089	22102089	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr14:22102089G>T	ENST00000542433.1	-	1	1007	c.910C>A	c.(910-912)Ctg>Atg	p.L304M		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L304M(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		ATCCTCTTCAGGGCAGACTTC	0.473000													21	143					2.44723e-14	5.81498e-14	0.004656	1	0
STX12	23673	broad.mit.edu	37	1	28144414	28144414	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:28144414A>C	ENST00000373943.4	+	7	754	c.629A>C	c.(628-630)cAt>cCt	p.H210P		NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	210	t-SNARE coiled-coil homology.				cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity	p.H210P(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		ATGATGATCCATGACCAGGGT	0.363000													9	45					0	0	0.008291	0	0
STK32C	282974	broad.mit.edu	37	10	134038741	134038741	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr10:134038741C>A	ENST00000368622.1	-	7	902	c.521G>T	c.(520-522)gGa>gTa	p.G174V	STK32C_ENST00000368625.4_Missense_Mutation_p.G304V			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	291	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.G291V(1)|p.G304V(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CCATACCCATCCTCGCAGCAG	0.667000													5	14					0.000602214	0.000987174	0.000602	1	0
CADM3	57863	broad.mit.edu	37	1	159170598	159170598	+	Silent	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:159170598C>A	ENST00000368125.4	+	9	1240	c.1083C>A	c.(1081-1083)acC>acA	p.T361T	CADM3_ENST00000368124.4_Silent_p.T395T|CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	361					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.T395T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ACACAGGAACCTACCTGACAC	0.582000													35	61					1.26612e-14	3.03634e-14	0.003271	1	0
LCP1	3936	broad.mit.edu	37	13	46716467	46716467	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr13:46716467G>A	ENST00000398576.2	-	16	1850	c.1462C>T	c.(1462-1464)Cgc>Tgc	p.R488C	LCP1_ENST00000435666.2_Missense_Mutation_p.R57C|LCP1_ENST00000323076.2_Missense_Mutation_p.R488C			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	488	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	p.R488C(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GTGAGAGTGCGGTTTCCTTCA	0.413000			T	BCL6	NHL								6	118					0	0	0.001168	0	0
CD163L1	283316	broad.mit.edu	37	12	7548699	7548699	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr12:7548699A>G	ENST00000313599.3	-	8	2099	c.2042T>C	c.(2041-2043)aTc>aCc	p.I681T	CD163L1_ENST00000396630.1_Missense_Mutation_p.I681T|CD163L1_ENST00000416109.2_Missense_Mutation_p.I691T			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	681	SRCR 6.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.I681T(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACCAGAACAGATCACTCCAAC	0.443000													4	44					0	0	0.001168	0	0
TJP1	7082	broad.mit.edu	37	15	30092877	30092877	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr15:30092877C>A	ENST00000346128.6	-	2	530	c.56G>T	c.(55-57)tGg>tTg	p.W19L	TJP1_ENST00000400011.2_Missense_Mutation_p.W23L|TJP1_ENST00000356107.6_Missense_Mutation_p.W19L|TJP1_ENST00000545208.2_Missense_Mutation_p.W19L|TJP1_ENST00000495972.2_Missense_Mutation_p.W19L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	19					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		p.W19L(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ATGTTGTTCCCATATAGCTGT	0.368000													5	95					1.024e-07	1.96456e-07	0.000602	1	0
TTC37	9652	broad.mit.edu	37	5	94865853	94865853	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr5:94865853A>C	ENST00000358746.2	-	11	1130	c.832T>G	c.(832-834)Tta>Gta	p.L278V		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	278							binding	p.L278V(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTAATGCCTAAGCCAATGAGG	0.378000													20	47					0	0	0.010504	0	0
TNR	7143	broad.mit.edu	37	1	175375611	175375611	+	Silent	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:175375611G>T	ENST00000367674.1	-	3	948	c.240C>A	c.(238-240)tcC>tcA	p.S80S	TNR_ENST00000263525.2_Silent_p.S80S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	80					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S80S(1)		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)					CTAGCCCTGAGGAGCAGAGGT	0.562000													39	79					1.90571e-15	4.61288e-15	0.004289	1	0
DNAH5	1767	broad.mit.edu	37	5	13721350	13721350	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr5:13721350C>G	ENST00000265104.4	-	71	12142	c.12038G>C	c.(12037-12039)cGc>cCc	p.R4013P		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4013	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R4013P(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATGTACTTGCGGGCCTGCCA	0.413000									Kartagener syndrome				6	64					0	0	0.001168	0	0
DNAH7	56171	broad.mit.edu	37	2	196636407	196636407	+	Missense_Mutation	SNP	C	C	A	rs113133988		TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr2:196636407C>A	ENST00000312428.6	-	61	11510	c.11410G>T	c.(11410-11412)Gta>Tta	p.V3804L	DNAH7_ENST00000409063.1_Missense_Mutation_p.V287L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3804					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.V3804L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGAATATTTACGCACGAATCT	0.353000													21	138					1.10513e-12	2.533e-12	0.014323	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77369710	77369710	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr16:77369710C>A	ENST00000282849.5	-	12	2220	c.1802G>T	c.(1801-1803)tGt>tTt	p.C601F		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	601	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C601F(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGTCCGGGAACATTCTGACCA	0.562000													88	138					4.64247e-43	1.2929e-42	0.014410	1	0
CCKBR	887	broad.mit.edu	37	11	6292297	6292297	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr11:6292297A>T	ENST00000525462.1	+	4	1078	c.1075A>T	c.(1075-1077)Agc>Tgc	p.S359C	CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000334619.2_Missense_Mutation_p.S290C|CCKBR_ENST00000532715.1_Missense_Mutation_p.S206C			P32239	GASR_HUMAN	cholecystokinin B receptor	290					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.S359C(1)|p.S290C(1)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGGCGAAGACAGCGATGGCTG	0.687000													13	65					0	0	0.004007	0	0
LAMA1	284217	broad.mit.edu	37	18	6959354	6959354	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr18:6959354C>A	ENST00000389658.3	-	54	7857	c.7764G>T	c.(7762-7764)ttG>ttT	p.L2588F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2588	Laminin G-like 3.				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	p.L2588F(1)		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)	GATTCCTGACCAAGGAGATGG	0.582000													20	90					8.10497e-08	1.56656e-07	0.010504	1	0
TAS1R2	80834	broad.mit.edu	37	1	19168239	19168239	+	Silent	SNP	G	G	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:19168239G>A	ENST00000375371.3	-	5	1596	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	525					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.F525F(1)		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)	TGTGGTTGAGGAAGGTGCCGG	0.597000													13	52					0	0	0.013537	0	0
ITLN1	55600	broad.mit.edu	37	1	160850401	160850401	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:160850401G>C	ENST00000326245.3	-	6	777	c.662C>G	c.(661-663)tCt>tGt	p.S221C	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	221	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	p.S221C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGAGTAATAAGATGCTGTTTT	0.448000													65	257					0	0	0.014410	0	0
HAGH	3029	broad.mit.edu	37	16	1859417	1859417	+	Silent	SNP	C	C	G			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr16:1859417C>G	ENST00000566709.1	-	9	998	c.714G>C	c.(712-714)tcG>tcC	p.S238S	HAGH_ENST00000397353.2_Intron|HAGH_ENST00000397356.3_Intron|HAGH_ENST00000567398.1_Intron|HAGH_ENST00000455446.2_Intron			Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	0					glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CAGGCTGTGCCGAGCCACGCC	0.731000													3	21					0	0	0.004672	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552041	178552041	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr5:178552041G>T	ENST00000251582.7	-	19	2992	c.2891C>A	c.(2890-2892)cCc>cAc	p.P964H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	964	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P964H(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCGGCTCTCGGGCCGGGCGTC	0.706000													28	72					8.88839e-20	2.2793e-19	0.010818	1	0
HIST1H3G	8355	broad.mit.edu	37	6	26271476	26271476	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr6:26271476G>T	ENST00000305910.3	-	1	136	c.137C>A	c.(136-138)aCc>aAc	p.T46N		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	46					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.T46N(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CAGAGCCACGGTGCCGGGACG	0.637000													14	69					2.23348e-06	4.07375e-06	0.004007	1	0
THUMPD2	80745	broad.mit.edu	37	2	39988520	39988520	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr2:39988520C>A	ENST00000505747.1	-	6	869	c.842G>T	c.(841-843)gGa>gTa	p.G281V	THUMPD2_ENST00000454352.2_3'UTR|THUMPD2_ENST00000260619.6_Missense_Mutation_p.G251V	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	281							methyltransferase activity	p.G251V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				AGATCGCAGTCCAGCTGTCTT	0.363000													25	233					1.12875e-08	2.26625e-08	0.006320	1	0
SYNGR1	9145	broad.mit.edu	37	22	39770447	39770447	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr22:39770447G>T	ENST00000328933.5	+	2	241	c.226G>T	c.(226-228)Gtg>Ttg	p.V76L	SYNGR1_ENST00000406293.3_Missense_Mutation_p.V76L|SYNGR1_ENST00000381535.4_Missense_Mutation_p.V77L|SYNGR1_ENST00000216155.7_Missense_Mutation_p.V76L|SYNGR1_ENST00000318801.4_Missense_Mutation_p.V76L	NM_004711.4	NP_004702.2			synaptogyrin 1									p.V76L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					GGCCGTGGGCGTGCTCGCCTT	0.627000													8	56					0.000157383	0.000262982	0.003080	1	0
TRBV28	28559	broad.mit.edu	37	7	142428727	142428727	+	RNA	SNP	T	T	C			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr7:142428727T>C	ENST00000390400.2	+	0	107																											GCTCGAGATATCTAGTCAAAA	0.468000													5	35					0	0	0.000602	0	0
CSMD2	114784	broad.mit.edu	37	1	34092172	34092172	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:34092172A>T	ENST00000373381.4	-	33	5386	c.5210T>A	c.(5209-5211)cTg>cAg	p.L1737Q	CSMD2_ENST00000373380.1_Missense_Mutation_p.L610Q|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1697	Sushi 10.					integral to membrane|plasma membrane	protein binding	p.L1697Q(1)		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)				GGCCAAGGGCAGTGATTCTCC	0.557000													6	18					0	0	0.001984	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713008	138713008	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr9:138713008C>A	ENST00000389532.4	-	11	3563	c.3499G>T	c.(3499-3501)Gac>Tac	p.D1167Y	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.D1178Y|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.D889Y	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1167						cytoplasm|microtubule		p.D1167Y(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTGTAACTGTCGAAGAGACAC	0.567000													17	118					1.56452e-12	3.55449e-12	0.007413	1	0
WDR90	197335	broad.mit.edu	37	16	716793	716793	+	Splice_Site	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr16:716793G>T	ENST00000549091.1	+	39	5102		c.e39+1		WDR90_ENST00000293879.4_Splice_Site|WDR90_ENST00000315764.4_Splice_Site|WDR90_ENST00000547944.1_Splice_Site	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90									p.?(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCAGAAGCAGGTACACGCAGC	0.657000													24	55					2.24059e-21	5.92157e-21	0.006320	1	0
OR10A3	26496	broad.mit.edu	37	11	7960402	7960402	+	Silent	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr11:7960402C>A	ENST00000360759.3	-	1	739	c.666G>T	c.(664-666)ctG>ctT	p.L222L		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L222L(1)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGATGGCAAACAGAACTCGAA	0.453000													8	40					0.00307968	0.00489348	0.003080	1	0
CASC10	399726	broad.mit.edu	37	10	21784774	21784774	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr10:21784774G>T	ENST00000377113.5	-	2	613	c.166C>A	c.(166-168)Ccg>Acg	p.P56T		NM_001010911.2	NP_001010911.1			cancer susceptibility candidate 10									p.P56T(1)									GAGGCGCCCGGCACCTGCAGG	0.786000											OREG0020066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	8					5.18039e-06	9.31751e-06	0.003080	1	0
RYR2	6262	broad.mit.edu	37	1	237880622	237880622	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:237880622C>A	ENST00000366574.2	+	72	10765	c.10448C>A	c.(10447-10449)cCt>cAt	p.P3483H	RYR2_ENST00000542537.1_Missense_Mutation_p.P3467H|RYR2_ENST00000360064.6_Missense_Mutation_p.P3481H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3483					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	p.P3481H(1)		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)			ATCTGTGCCCCTGGGGACCAG	0.498000													21	25					1.28384e-07	2.40952e-07	0.012319	1	0
KIF3C	3797	broad.mit.edu	37	2	26151869	26151869	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr2:26151869G>T	ENST00000264712.3	-	8	2939	c.2360C>A	c.(2359-2361)gCa>gAa	p.A787E	KIF3C_ENST00000405914.1_Missense_Mutation_p.A787E	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	787	Globular (Potential).				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.A787E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCCACTGTTGCAGGGCGCAG	0.622000													12	95					1.99824e-07	3.72333e-07	0.004990	1	0
OR5K1	26339	broad.mit.edu	37	3	98188897	98188897	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr3:98188897T>A	ENST00000332650.5	+	1	574	c.477T>A	c.(475-477)caT>caA	p.H159Q		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H159Q(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCATGATTCATGTAGGGCTTG	0.423000													32	252					0	0	0.012213	0	0
NLRP6	171389	broad.mit.edu	37	11	280512	280512	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr11:280512C>A	ENST00000534750.1	+	4	983	c.778C>A	c.(778-780)Cgc>Agc	p.R260S	NLRP6_ENST00000312165.5_Missense_Mutation_p.R260S	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	260	NACHT.					cytoplasm	ATP binding	p.R260S(1)		breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTGCCCCGACCGCGGCGCGCC	0.751000													3	9					0.004672	0.00733362	0.004672	1	0
ESRRG	2104	broad.mit.edu	37	1	216850479	216850479	+	Silent	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:216850479C>A	ENST00000391890.3	-	4	859	c.342G>T	c.(340-342)ggG>ggT	p.G114G	ESRRG_ENST00000366938.2_Silent_p.G114G|ESRRG_ENST00000408911.3_Silent_p.G137G|ESRRG_ENST00000359162.2_Silent_p.G114G|ESRRG_ENST00000361395.2_Silent_p.G114G|ESRRG_ENST00000361525.3_Silent_p.G114G|ESRRG_ENST00000493603.1_Silent_p.G114G|ESRRG_ENST00000360012.3_Silent_p.G114G|ESRRG_ENST00000463665.1_Silent_p.G114G|ESRRG_ENST00000366940.2_Silent_p.G114G|ESRRG_ENST00000366937.1_Silent_p.G142G|ESRRG_ENST00000487276.1_Silent_p.G114G|ESRRG_ENST00000493748.1_Silent_p.G114G	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	137					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.G137G(2)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CATAGTGGTACCCAGAAGCGA	0.498000													21	117					1.28384e-07	2.40952e-07	0.012319	1	0
LOC440040	440040	broad.mit.edu	37	11	49805552	49805552	+	RNA	SNP	G	G	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr11:49805552G>A	ENST00000527477.1	+	0	1240																											TTCTGTGAGGGCATGACGGTG	0.517000													4	75					0	0	0.009096	0	0
NPAP1	23742	broad.mit.edu	37	15	24924482	24924482	+	Silent	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr15:24924482G>T	ENST00000329468.2	+	1	3942	c.3468G>T	c.(3466-3468)ccG>ccT	p.P1156P		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.P1156P(1)									TCCAACTTCCGTAAGAGCACC	0.423000													7	51					5.18039e-06	9.31751e-06	0.003080	1	0
SYT16	83851	broad.mit.edu	37	14	62567300	62567300	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr14:62567300G>T	ENST00000430451.2	+	6	2010	c.1813G>T	c.(1813-1815)Gag>Tag	p.E605*		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	605	C2 2.							p.E585*(1)|p.E605*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GAAGCGTAAAGAGATGATTGG	0.488000													7	30					0.00307968	0.00489348	0.003080	1	0
ATM	472	broad.mit.edu	37	11	108205768	108205768	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr11:108205768G>T	ENST00000278616.4	+	55	8468	c.8083G>T	c.(8083-8085)Ggt>Tgt	p.G2695C	ATM_ENST00000452508.2_Missense_Mutation_p.G2695C|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2695			G -> A (in T-prolymphocytic leukemia and B-cell chronic lymphocytic leukemia).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.G2695S(4)|p.G2695C(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTTAGCAGGAGGTGTAAATTT	0.398000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			31	58					3.00307e-07	5.51627e-07	0.008361	1	0
TMEM177	80775	broad.mit.edu	37	2	120438630	120438630	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr2:120438630G>T	ENST00000424086.1	+	2	674	c.201G>T	c.(199-201)gaG>gaT	p.E67D	TMEM177_ENST00000409951.1_Missense_Mutation_p.E67D|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.E67D|TMEM177_ENST00000272521.6_Missense_Mutation_p.E67D	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	67						integral to membrane		p.E67D(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					TCTTCCAAGAGGTGCTACAGG	0.592000													65	150					1.34159e-35	3.69652e-35	0.014410	1	0
GGN	199720	broad.mit.edu	37	19	38876275	38876275	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr19:38876275A>C	ENST00000334928.6	-	3	1759	c.1627T>G	c.(1627-1629)Ttg>Gtg	p.L543V	GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	543	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis			p.L543V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCTCCATGCAAGCCATCCTTA	0.687000													6	52					0	0	0.001984	0	0
MTNR1A	4543	broad.mit.edu	37	4	187454987	187454987	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr4:187454987C>A	ENST00000307161.5	-	2	1110	c.909G>T	c.(907-909)agG>agT	p.R303S	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	303					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	p.R303S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TGTATTCCTTCCTGAAATTTT	0.473000													11	153					6.94344e-10	1.48624e-09	0.006122	1	0
SSPO	23145	broad.mit.edu	37	7	149503133	149503133	+	RNA	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr7:149503133G>T	ENST00000378016.2	+	0	8637							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)			ACTGCAACACGCAGCCCTGCA	0.637000													7	42					8.12818e-05	0.000137595	0.001984	1	0
POLR3D	661	broad.mit.edu	37	8	22105494	22105494	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr8:22105494G>T	ENST00000397802.4	+	3	549	c.334G>T	c.(334-336)Ggc>Tgc	p.G112C	POLR3D_ENST00000306433.4_Missense_Mutation_p.G112C			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	112					innate immune response|positive regulation of 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	p.G112C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CTTTGAGCAGGGCCCAGCTGA	0.522000													24	38					1.85244e-09	3.83826e-09	0.003330	1	0
RPS6KC1	26750	broad.mit.edu	37	1	213415205	213415205	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:213415205G>T	ENST00000366960.3	+	11	2536	c.2386G>T	c.(2386-2388)Gat>Tat	p.D796Y	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.D499Y|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D784Y|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D584Y	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	796	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	p.D796Y(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ACCCAGCTCAGATCCTAAGTT	0.418000													54	79					4.88482e-21	1.27795e-20	0.014410	1	0
TENM4	26011	broad.mit.edu	37	11	78433921	78433921	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr11:78433921G>A	ENST00000278550.7	-	24	4054	c.3592C>T	c.(3592-3594)Cag>Tag	p.Q1198*		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.Q1198*(2)									GGAGGCTGCTGAGACACAAAC	0.562000													10	37					0	0	0.006214	0	0
RYR1	6261	broad.mit.edu	37	19	38976748	38976748	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr19:38976748C>G	ENST00000355481.4	+	34	5584	c.5453C>G	c.(5452-5454)gCg>gGg	p.A1818G	RYR1_ENST00000359596.3_Missense_Mutation_p.A1818G|RYR1_ENST00000360985.3_Missense_Mutation_p.A1818G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1818	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	p.A1818G(1)		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)	CTGGGGGAGGCGGTGCGCGAC	0.706000													35	74					0	0	0.003755	0	0
FAM179B	23116	broad.mit.edu	37	14	45433416	45433416	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr14:45433416G>A	ENST00000361462.2	+	1	1975	c.1792G>A	c.(1792-1794)Ggg>Agg	p.G598R	FAM179B_ENST00000361577.3_Missense_Mutation_p.G598R|FAM179B_ENST00000382233.2_Missense_Mutation_p.G598R|KLHL28_ENST00000553817.1_Intron			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	598							binding	p.G598R(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ATCTTCTGCCGGGGGTAGGTC	0.512000													42	65					0	0	0.010771	0	0
MPV17	4358	broad.mit.edu	37	2	27535444	27535444	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr2:27535444G>A	ENST00000357186.6	-	3	1353	c.124C>T	c.(124-126)Ccg>Tcg	p.P42S	MPV17_ENST00000405076.1_Intron|MPV17_ENST00000403262.2_Missense_Mutation_p.P98S|MPV17_ENST00000402310.1_Missense_Mutation_p.P98S|MPV17_ENST00000405983.1_Missense_Mutation_p.P113S|MPV17_ENST00000402722.1_Missense_Mutation_p.P86L|MPV17_ENST00000380044.1_Missense_Mutation_p.P98S|MPV17_ENST00000233545.2_Missense_Mutation_p.P98S			P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	98					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane		p.P113S(1)|p.P98S(1)		lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAAACACGGGGCAAAGCCC	0.562000													8	104					0	0	0.004482	0	0
SSBP2	23635	broad.mit.edu	37	5	80724479	80724479	+	Silent	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr5:80724479C>A	ENST00000320672.4	-	16	1191	c.981G>T	c.(979-981)ctG>ctT	p.L327L	SSBP2_ENST00000509053.1_Intron|SSBP2_ENST00000515395.1_Silent_p.L305L|SSBP2_ENST00000505980.1_Silent_p.L307L|SSBP2_ENST00000510060.1_5'UTR|SSBP2_ENST00000514493.1_Silent_p.L297L	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	327					regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding	p.L327L(1)	SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		GTTGATTACTCAGGCTCATAT	0.368000													22	49					1.5548e-18	3.90964e-18	0.005443	1	0
KIAA1551	55196	broad.mit.edu	37	12	32135902	32135902	+	Silent	SNP	A	A	G			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr12:32135902A>G	ENST00000312561.4	+	4	2427	c.2013A>G	c.(2011-2013)gaA>gaG	p.E671E	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551									p.E671E(1)									GTTCCATGGAAGTGCTAGCAA	0.428000													10	37					0	0	0.013537	0	0
POLR3A	11128	broad.mit.edu	37	10	79745855	79745855	+	Silent	SNP	G	G	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr10:79745855G>A	ENST00000372371.3	-	22	3101	c.2964C>T	c.(2962-2964)ggC>ggT	p.G988G		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	988					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	p.G988G(1)		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)			TATCATTGATGCCATATTTAT	0.418000													52	112					0	0	0.014410	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356236	37356236	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr20:37356236G>T	ENST00000217420.1	+	2	795	c.532G>T	c.(532-534)Gag>Tag	p.E178*		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	178					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.E178*(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGAAGACGGCGAGGTGGTGCG	0.637000													7	37					1.06961e-07	2.03698e-07	0.003080	1	0
IGHV6-1	28385	broad.mit.edu	37	14	106405763	106405763	+	RNA	SNP	C	C	G			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr14:106405763C>G	ENST00000390593.2	-	0	262																											TATGTCCTTCCCAGCCACTCA	0.507000													44	87					0	0	0.014410	0	0
GPR142	350383	broad.mit.edu	37	17	72368582	72368582	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr17:72368582T>A	ENST00000335666.4	+	4	1280	c.1232T>A	c.(1231-1233)tTc>tAc	p.F411Y		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	411						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.F411Y(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GCAGCCAACTTCGGCCTCTAC	0.607000													23	61					0	0	0.003954	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544242	154544242	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:154544242A>T	ENST00000368476.3	+	5	1207	c.943A>T	c.(943-945)Agc>Tgc	p.S315C		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	315					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.S315C(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	CATCGTCACCAGCGTGTGCGT	0.627000													29	38					0	0	0.008361	0	0
CACNA1A	773	broad.mit.edu	37	19	13339571	13339571	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr19:13339571C>T	ENST00000573710.2	-	37	5848	c.5570G>A	c.(5569-5571)cGa>cAa	p.R1857Q	CACNA1A_ENST00000360228.5_Intron	NM_001127221.1	NP_001120693.1	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1857					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.R1857Q(2)|p.R1857L(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGATATTACTCGTAATAAACT	0.478000													18	30					0	0	0.003330	0	0
GPX8	493869	broad.mit.edu	37	5	54456928	54456928	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr5:54456928T>A	ENST00000503787.1	+	2	386	c.311T>A	c.(310-312)tTg>tAg	p.L104*	GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000515370.1_Nonsense_Mutation_p.L53*|CDC20B_ENST00000334206.5_Intron|GPX8_ENST00000296734.6_Intron|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000322374.6_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	104					response to oxidative stress	integral to membrane	glutathione peroxidase activity	p.L104*(1)|p.L104W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	TTCAGCGTGTTGGCTTTTCCC	0.473000													13	77					0	0	0.001855	0	0
GATA5	140628	broad.mit.edu	37	20	61039900	61039900	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr20:61039900A>T	ENST00000252997.2	-	7	1247	c.1186T>A	c.(1186-1188)Ttg>Atg	p.L396M		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	396					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.L396M(1)		kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			ACCTAGGCCAAGGCCAGCGCA	0.662000													8	50					0	0	0.006214	0	0
KCNQ2	3785	broad.mit.edu	37	20	62046267	62046267	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr20:62046267T>A	ENST00000354587.3	-	11	1606	c.1430A>T	c.(1429-1431)cAg>cTg	p.Q477L	KCNQ2_ENST00000430658.1_Missense_Mutation_p.Q475L|KCNQ2_ENST00000370222.3_Missense_Mutation_p.Q477L|KCNQ2_ENST00000370224.1_Missense_Mutation_p.Q477L|KCNQ2_ENST00000359125.2_Missense_Mutation_p.Q505L|KCNQ2_ENST00000360480.3_Missense_Mutation_p.Q477L|KCNQ2_ENST00000359689.1_Missense_Mutation_p.Q505L|KCNQ2_ENST00000370226.1_Missense_Mutation_p.Q475L|KCNQ2_ENST00000357249.2_Missense_Mutation_p.Q487L|KCNQ2_ENST00000344462.3_Missense_Mutation_p.Q465L			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	505					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.Q505L(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TTCTGAGTTCTGCCGTGACGC	0.672000													35	64					0	0	0.006230	0	0
SELPLG	6404	broad.mit.edu	37	12	109017390	109017390	+	Missense_Mutation	SNP	G	G	T	rs113452057		TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr12:109017390G>T	ENST00000388962.3	-	3	823	c.664C>A	c.(664-666)Cag>Aag	p.Q222K	SELPLG_ENST00000228463.6_Missense_Mutation_p.Q248K|SELPLG_ENST00000550948.1_Missense_Mutation_p.Q232K	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	232	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	p.Q232K(1)|p.Q222K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCAGTGGTCTGTGCCTCCATG	0.617000													31	166					2.68265e-12	6.0418e-12	0.013726	1	0
ZNF160	90338	broad.mit.edu	37	19	53572754	53572754	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr19:53572754C>G	ENST00000601421.1	-	3	1801	c.925G>C	c.(925-927)Gag>Cag	p.E309Q	ZNF160_ENST00000429604.1_Missense_Mutation_p.E345Q|ZNF160_ENST00000599056.1_Missense_Mutation_p.E345Q|ZNF160_ENST00000418871.1_Missense_Mutation_p.E345Q			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	345					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E345Q(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTTCCACACTCATTACACTTG	0.403000													9	75					0	0	0.004482	0	0
WDR90	197335	broad.mit.edu	37	16	716792	716792	+	Splice_Site	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr16:716792G>T	ENST00000549091.1	+	39	5102	c.5010_splice	c.e39+1	p.Q1670_splice	WDR90_ENST00000293879.4_Splice_Site_p.Q1668_splice|WDR90_ENST00000315764.4_Splice_Site_p.Q219_splice|WDR90_ENST00000547944.1_Splice_Site_p.Q267_splice	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1668								p.?(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCCAGAAGCAGGTACACGCAG	0.657000													24	54					2.24059e-21	5.92157e-21	0.006320	1	0
FMO4	2329	broad.mit.edu	37	1	171303751	171303751	+	Silent	SNP	C	C	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:171303751C>T	ENST00000367749.3	+	8	1359	c.1029C>T	c.(1027-1029)agC>agT	p.S343S		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	343					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.S343S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTCTTAAAAGCCTCTGTACAA	0.383000													12	121					0	0	0.010729	0	0
ZNF560	147741	broad.mit.edu	37	19	9577542	9577542	+	Missense_Mutation	SNP	C	C	T	rs148650284		TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr19:9577542C>T	ENST00000301480.4	-	10	2294	c.2081G>A	c.(2080-2082)cGa>cAa	p.R694Q		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	694					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R694Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CATGGAATTTCGAAAGGAATT	0.378000													39	153					0	0	0.006230	0	0
LRRN3	54674	broad.mit.edu	37	7	110764827	110764827	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr7:110764827C>G	ENST00000451085.1	+	4	3045	c.1999C>G	c.(1999-2001)Cag>Gag	p.Q667E	IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.Q667E|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.Q667E|IMMP2L_ENST00000331762.3_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	667						integral to membrane		p.Q667E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GAATTACTTACAGAAACCAAC	0.418000													25	94					0	0	0.007291	0	0
POTEA	340441	broad.mit.edu	37	8	43171053	43171053	+	RNA	SNP	A	A	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr8:43171053A>T	ENST00000522175.2	+	0	788							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.T308T(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						TAAAGCTGACATCAGAGGAAG	0.279000													30	62					0	0	0.003271	0	0
ITFG2	55846	broad.mit.edu	37	12	2932973	2932973	+	Silent	SNP	C	C	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr12:2932973C>T	ENST00000228799.2	+	11	1243	c.1104C>T	c.(1102-1104)tgC>tgT	p.C368C	ITFG2_ENST00000542548.1_Silent_p.C256C|ITFG2_ENST00000419778.2_Silent_p.C191C	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	368								p.C368C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			ACAGCCCCTGCCTCGTATATG	0.552000													19	238					0	0	0.007413	0	0
FOXN4	121643	broad.mit.edu	37	12	109719546	109719546	+	Silent	SNP	C	C	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr12:109719546C>T	ENST00000299162.5	-	9	1064	c.960G>A	c.(958-960)ccG>ccA	p.P320P	FOXN4_ENST00000355216.1_Silent_p.P140P	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	320					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|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	p.P320P(1)|p.P140P(1)		large_intestine(5)|lung(9)|ovary(2)	16						CTGGTTCCCCCGGTTTGCCGG	0.672000													4	25					0	0	0.009096	0	0
GABRA5	2558	broad.mit.edu	37	15	27160003	27160003	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr15:27160003C>A	ENST00000335625.5	+	7	1439	c.551C>A	c.(550-552)gCg>gAg	p.A184E	GABRA5_ENST00000400081.3_Missense_Mutation_p.A184E|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.A184E	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	184					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	p.A184E(1)		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)	CCGATGGATGCGCACGCTTGC	0.443000													12	59					9.31168e-06	1.62954e-05	0.001855	1	0
BOLL	66037	broad.mit.edu	37	2	198646540	198646540	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr2:198646540G>T	ENST00000321801.7	-	2	641	c.71C>A	c.(70-72)cCt>cAt	p.P24H	BOLL_ENST00000430004.1_Missense_Mutation_p.P12H|BOLL_ENST00000392296.4_Missense_Mutation_p.P12H|BOLL_ENST00000282278.8_De_novo_Start_InFrame|BOLL_ENST00000433157.1_Missense_Mutation_p.P12H	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	12					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity	p.P24N(1)|p.P12N(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						AGGTGACACAGGATTAGGGGA	0.393000													17	104					1.02788e-11	2.25612e-11	0.004990	1	0
OR51B5	282763	broad.mit.edu	37	11	5363838	5363838	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr11:5363838G>T	ENST00000300773.2	-	1	971	c.917C>A	c.(916-918)aCt>aAt	p.T306N	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	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T306N(1)		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)		TCTATGGGTAGTAAAAAGGTG	0.368000													12	44					9.31168e-06	1.62954e-05	0.001855	1	0
C7	730	broad.mit.edu	37	5	40964946	40964946	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr5:40964946G>C	ENST00000313164.9	+	14	2212	c.1853G>C	c.(1852-1854)cGg>cCg	p.R618P		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	618	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.R618L(1)|p.R618P(1)					Ovarian(839;0.0112)				GAAGATTTACGGTGGCTTGTT	0.393000													54	126					0	0	0.014410	0	0
HTR1E	3354	broad.mit.edu	37	6	87725649	87725649	+	Silent	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr6:87725649G>T	ENST00000305344.4	+	2	1300	c.597G>T	c.(595-597)ctG>ctT	p.L199L	HTR1E_ENST00000369584.1_Silent_p.L199L	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	199					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.P194fs*20(1)|p.L199L(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CTTTGATACTGATTCTCTATT	0.478000													6	38					3.59834e-05	6.21313e-05	0.001168	1	0
SYT6	148281	broad.mit.edu	37	1	114640500	114640500	+	Splice_Site	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:114640500C>A	ENST00000393296.1	-	6	1442		c.e6-1		SYT6_ENST00000369547.1_Splice_Site			Q5T7P8	SYT6_HUMAN	synaptotagmin VI						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	p.?(1)		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)		GTGGCCCACTCTGAGGGAGAA	0.577000													8	42					0.000442599	0.000734828	0.006214	1	0
EPHA7	2045	broad.mit.edu	37	6	93956606	93956606	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr6:93956606C>A	ENST00000369303.4	-	15	2814	c.2630G>T	c.(2629-2631)cGt>cTt	p.R877L		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	877	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R877L(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)		CCTTTCAGCACGCTCCTTTTG	0.423000													12	60					1.05317e-09	2.21765e-09	0.002450	1	0
PAPLN	89932	broad.mit.edu	37	14	73720461	73720461	+	Splice_Site	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr14:73720461G>T	ENST00000427855.1	+	12	1196		c.e12-1		PAPLN_ENST00000555445.1_Splice_Site|PAPLN_ENST00000381166.3_Splice_Site|PAPLN_ENST00000554301.1_Splice_Site|PAPLN_ENST00000340738.5_Splice_Site			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein							proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	p.?(2)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCTCCTGCCAGCTGGAAGGCA	0.662000													13	41					0.00244969	0.00394081	0.002450	1	0
AP3B2	8120	broad.mit.edu	37	15	83333169	83333169	+	Silent	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr15:83333169G>T	ENST00000261722.3	-	18	2361	c.2154C>A	c.(2152-2154)tcC>tcA	p.S718S	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.S737S|AP3B2_ENST00000535348.1_Silent_p.S686S	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	718	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	p.S717S(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CTTCATTGTCGGACTCACTGC	0.567000													4	48					0.000602214	0.000987174	0.000602	1	0
PTPRK	5796	broad.mit.edu	37	6	128306976	128306976	+	Silent	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr6:128306976C>A	ENST00000368227.3	-	23	3558	c.3192G>T	c.(3190-3192)acG>acT	p.T1064T	PTPRK_ENST00000368210.3_Silent_p.T1065T|PTPRK_ENST00000532331.1_Silent_p.T1069T|PTPRK_ENST00000368213.5_Silent_p.T1053T|PTPRK_ENST00000368207.3_Silent_p.T1079T|PTPRK_ENST00000368215.3_Silent_p.T1046T|PTPRK_ENST00000368226.4_Silent_p.T1047T			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1046	Tyrosine-protein phosphatase 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.T1047T(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CAGGCCAGCCCGTGAAATGGA	0.473000													13	53					4.93089e-13	1.14027e-12	0.002450	1	0
CSAG4	100130935	broad.mit.edu	37	X	151896589	151896589	+	RNA	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chrX:151896589C>A	ENST00000361201.4	-	0	351					NR_073432.1													p.L11F(1)		endometrium(2)|kidney(2)|lung(1)	5						GGTTGTTGGACAATGGGCTGG	0.557000													5	145					8.12818e-05	0.000137595	0.001984	1	0
TMC6	11322	broad.mit.edu	37	17	76117707	76117707	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr17:76117707C>G	ENST00000590602.1	-	11	1472	c.1313G>C	c.(1312-1314)tGg>tCg	p.W438S	TMC6_ENST00000392467.3_Missense_Mutation_p.W438S|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000591436.1_Missense_Mutation_p.W77S|TMC6_ENST00000322914.3_Missense_Mutation_p.W438S|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322933.4_Missense_Mutation_p.W77S|TMC6_ENST00000589553.1_Missense_Mutation_p.W211S			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	438						endoplasmic reticulum membrane|integral to membrane		p.W438S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ACACAGCAGCCACACAAGCCC	0.721000													3	16					0	0	0.001168	0	0
TEP1	7011	broad.mit.edu	37	14	20854332	20854332	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr14:20854332C>A	ENST00000262715.5	-	20	2924	c.2884G>T	c.(2884-2886)Gag>Tag	p.E962*	TEP1_ENST00000556935.1_Nonsense_Mutation_p.E854*	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	962					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.E962*(1)		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)		TTCTCCACCTCCCCAAGGCAC	0.552000													19	129					5.3912e-06	9.62981e-06	0.006122	1	0
LRTM2	654429	broad.mit.edu	37	12	1943635	1943635	+	Silent	SNP	G	G	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr12:1943635G>A	ENST00000543818.1	+	5	1703	c.861G>A	c.(859-861)ccG>ccA	p.P287P	CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000543730.1_3'UTR|LRTM2_ENST00000299194.1_Silent_p.P287P|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Silent_p.P287P	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	287						integral to membrane		p.P287P(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			AGCCGGAGCCGGAGCCCAGCA	0.677000													11	35					0	0	0.013537	0	0
CCDC41	51134	broad.mit.edu	37	12	94806266	94806266	+	Translation_Start_Site	SNP	T	T	C			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr12:94806266T>C	ENST00000397809.5	-	3	550	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CCDC41_ENST00000397807.2_5'UTR|CCDC41_ENST00000547575.1_Start_Codon_SNP_p.M1V|CCDC41_ENST00000339839.5_Start_Codon_SNP_p.M1V	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	0								p.M1V(1)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CTGACAACCATGTAAAAATAA	0.393000													19	57					0	0	0.012319	0	0
SP100	6672	broad.mit.edu	37	2	231327148	231327148	+	Splice_Site	SNP	A	A	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr2:231327148A>T	ENST00000264052.5	+	10	1328		c.e10-1		SP100_ENST00000409112.1_Splice_Site|SP100_ENST00000409341.1_Splice_Site|SP100_ENST00000340126.4_Splice_Site|SP100_ENST00000409897.1_Splice_Site|SP100_ENST00000409824.1_Splice_Site|SP100_ENST00000341950.4_Splice_Site|SP100_ENST00000427101.2_Splice_Site	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen						DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|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)		TCCTTTGTGCAGTCATCAGCA	0.498000													16	51					0	0	0.004990	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1818201	1818201	+	Splice_Site	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr16:1818201C>A	ENST00000250894.4	+	30	3718	c.3559_splice	c.e30-1	p.A1187_splice	MAPK8IP3_ENST00000356010.5_Splice_Site_p.A1181_splice	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1187					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	p.A1193A(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCCCTGCAGCCAATAAGACAT	0.657000													5	95					0.00116845	0.00190332	0.001168	1	0
USP33	23032	broad.mit.edu	37	1	78207102	78207102	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:78207102C>A	ENST00000370793.1	-	4	533	c.187G>T	c.(187-189)Gat>Tat	p.D63Y	USP33_ENST00000357428.1_Missense_Mutation_p.D63Y|USP33_ENST00000370794.3_Missense_Mutation_p.D32Y|USP33_ENST00000528150.1_5'UTR|USP33_ENST00000370792.3_Missense_Mutation_p.D63Y	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	63					axon guidance|cell migration|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|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.D63Y(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ACTTTACAATCCTGACAAGTA	0.303000													28	155					1.16021e-09	2.42334e-09	0.007291	1	0
SLC24A4	123041	broad.mit.edu	37	14	92915520	92915520	+	Silent	SNP	C	C	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr14:92915520C>T	ENST00000532405.1	+	10	1066	c.840C>T	c.(838-840)gaC>gaT	p.D280D	SLC24A4_ENST00000298877.1_Silent_p.D263D|SLC24A4_ENST00000531433.1_Intron|SLC24A4_ENST00000351924.5_Intron|SLC24A4_ENST00000393265.2_Silent_p.D216D			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	280						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.D263D(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		ATTTCTATGACGGTAGCTATG	0.493000													6	54					0	0	0.001984	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725310	140725310	+	Silent	SNP	C	C	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr5:140725310C>T	ENST00000253812.6	+	1	1710	c.1710C>T	c.(1708-1710)gaC>gaT	p.D570D	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.D570D(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCACAGACGGTTCCACTG	0.672000													28	176					0	0	0.008361	0	0
C4orf27	54969	broad.mit.edu	37	4	170652978	170652978	+	Missense_Mutation	SNP	C	C	A	rs1047673		TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr4:170652978C>A	ENST00000393381.2	-	7	861	c.786G>T	c.(784-786)gaG>gaT	p.E262D		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	262						nucleus		p.E262D(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		TTAGTCTCTCCTCATCACTTG	0.363000													5	61					0.00136819	0.00221476	0.013537	1	0
ZNF462	58499	broad.mit.edu	37	9	109701363	109701363	+	Silent	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr9:109701363G>T	ENST00000277225.5	+	7	6691	c.6402G>T	c.(6400-6402)ccG>ccT	p.P2134P	ZNF462_ENST00000457913.1_Silent_p.P2194P|ZNF462_ENST00000542028.1_Silent_p.P91P|ZNF462_ENST00000441147.2_Silent_p.P1040P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2134					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P2134P(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGCTACCCCGGCTGAAGAAG	0.532000													20	116					2.37509e-13	5.54188e-13	0.010504	1	0
DHRS7C	201140	broad.mit.edu	37	17	9694562	9694562	+	Silent	SNP	G	G	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr17:9694562G>A	ENST00000330255.4	-	1	52	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	DHRS7C_ENST00000571134.1_Silent_p.L14L	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	14						extracellular region	binding|oxidoreductase activity	p.L14L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CTGATTCCCAGCAGCAGCAGG	0.542000													5	9					0	0	0.001168	0	0
SHANK1	50944	broad.mit.edu	37	19	51215303	51215303	+	Silent	SNP	C	C	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr19:51215303C>T	ENST00000293441.1	-	6	879	c.861G>A	c.(859-861)acG>acA	p.T287T	SHANK1_ENST00000391814.1_Silent_p.T287T|SHANK1_ENST00000359082.3_Silent_p.T287T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	287					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.T287T(1)		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)		CCACCATGGCCGTGTGGAACA	0.617000													5	56					0	0	0.000602	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115609681	115609681	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr10:115609681T>C	ENST00000361384.2	-	2	2100	c.1183A>G	c.(1183-1185)Act>Gct	p.T395A	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.T395A	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	395					cell division|mitosis	nucleus	hydrolase activity	p.T395A(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TAAGGCAAAGTACTCTCATTA	0.393000								Other identified genes with known or suspected DNA repair function					7	75					0	0	0.001984	0	0
STX12	23673	broad.mit.edu	37	1	28144412	28144412	+	Silent	SNP	C	C	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:28144412C>T	ENST00000373943.4	+	7	752	c.627C>T	c.(625-627)atC>atT	p.I209I		NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	209	t-SNARE coiled-coil homology.				cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity	p.I209I(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		CCATGATGATCCATGACCAGG	0.358000													10	45					0	0	0.013537	0	0
ODF2	4957	broad.mit.edu	37	9	131231471	131231471	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr9:131231471C>T	ENST00000303890.5	+	7	772	c.187C>T	c.(187-189)Cat>Tat	p.H63Y	ODF2_ENST00000448249.3_Intron|ODF2_ENST00000351030.3_Missense_Mutation_p.H82Y|ODF2_ENST00000444119.2_Missense_Mutation_p.H63Y|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000372791.3_Missense_Mutation_p.H68Y|ODF2_ENST00000393533.2_Missense_Mutation_p.H87Y|ODF2_ENST00000372796.4_Missense_Mutation_p.H87Y|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372814.3_Missense_Mutation_p.H131Y|ODF2_ENST00000546203.1_Missense_Mutation_p.H68Y|ODF2_ENST00000372807.5_Missense_Mutation_p.H82Y|ODF2_ENST00000434106.2_Missense_Mutation_p.H87Y	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	87					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	p.H87Y(1)|p.H63Y(1)|p.H131Y(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GAATCCACCTCATTGCCTGGA	0.473000													21	96					0	0	0.014323	0	0
TNN	63923	broad.mit.edu	37	1	175092548	175092548	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:175092548C>A	ENST00000239462.4	+	12	2776	c.2663C>A	c.(2662-2664)cCc>cAc	p.P888H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	888	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.P888H(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ATTGACGGCCCCAAAAACCTA	0.473000													29	62					3.73148e-12	8.33149e-12	0.007291	1	0
CYP24A1	1591	broad.mit.edu	37	20	52782307	52782307	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr20:52782307C>A	ENST00000216862.3	-	5	1099	c.706G>T	c.(706-708)Gtg>Ttg	p.V236L	CYP24A1_ENST00000395955.3_Missense_Mutation_p.V236L|CYP24A1_ENST00000395954.3_Missense_Mutation_p.V94L	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	236					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|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	p.V236L(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	ATGAAGTTCACAGCTTCATCC	0.383000													25	63					5.61819e-17	1.37275e-16	0.005443	1	0
GABRA2	2555	broad.mit.edu	37	4	46252550	46252550	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr4:46252550A>T	ENST00000510861.1	-	10	1304	c.1131T>A	c.(1129-1131)aaT>aaA	p.N377K	GABRA2_ENST00000540012.1_Missense_Mutation_p.N382K|GABRA2_ENST00000381620.4_Missense_Mutation_p.N377K|GABRA2_ENST00000514090.1_Missense_Mutation_p.N377K|GABRA2_ENST00000356504.1_Missense_Mutation_p.N377K|GABRA2_ENST00000507069.1_Missense_Mutation_p.N437K			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	377					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.N377K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTTTTGAAAGATTCGGGGCAT	0.408000													45	176					0	0	0.010771	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476407	140476407	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr5:140476407C>A	ENST00000194155.4	+	1	2181	c.2033C>A	c.(2032-2034)gCg>gAg	p.A678E		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		678					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A678E(1)|p.A678V(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCCGGAGGCGGCACCGGCC	0.682000													47	137					6.08268e-21	1.57541e-20	0.014410	1	0
ABCC1	4363	broad.mit.edu	37	16	16218667	16218667	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr16:16218667G>T	ENST00000399408.2	+	26	3817	c.3642G>T	c.(3640-3642)gaG>gaT	p.E1214D	ABCC1_ENST00000351154.5_Missense_Mutation_p.E1145D|ABCC1_ENST00000345148.5_Missense_Mutation_p.E1204D|ABCC1_ENST00000349029.5_Missense_Mutation_p.E1089D|ABCC1_ENST00000399410.3_Missense_Mutation_p.E1204D|ABCC1_ENST00000346370.5_Missense_Mutation_p.E1148D			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1204	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.E1204D(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGCGGCTGGAGTGTGTGGGCA	0.582000													20	52					4.96729e-08	9.67314e-08	0.008871	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			8	19					0.00448238	0.00707888	0.004482	1	0
C6orf118	168090	broad.mit.edu	37	6	165715464	165715464	+	Missense_Mutation	SNP	G	G	T	rs150870882	byFrequency	TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr6:165715464G>T	ENST00000543069.1	-	2	616	c.35C>A	c.(34-36)aCg>aAg	p.T12K	C6orf118_ENST00000230301.8_Missense_Mutation_p.T116K			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	116								p.T116K(1)		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)		GACCAGGGCCGTGTGGATGGT	0.667000													12	72					9.31168e-06	1.62954e-05	0.001855	1	0
LRP5	4041	broad.mit.edu	37	11	68191071	68191071	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr11:68191071A>G	ENST00000294304.7	+	14	3248	c.3142A>G	c.(3142-3144)Atc>Gtc	p.I1048V		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1048	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	p.I1048V(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CACCAATACCATCAACGTCCA	0.637000													12	104					0	0	0.013537	0	0
CNGA3	1261	broad.mit.edu	37	2	99012411	99012411	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr2:99012411G>C	ENST00000393504.1	+	8	1195	c.778G>C	c.(778-780)Gac>Cac	p.D260H	CNGA3_ENST00000409937.1_Missense_Mutation_p.D264H|CNGA3_ENST00000436404.2_Missense_Mutation_p.D242H|CNGA3_ENST00000272602.2_Missense_Mutation_p.D260H	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	260			D -> N (in ACHM2).		signal transduction|visual perception	integral to membrane	cGMP binding	p.D260H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGTCCCCACCGACCTGGCTTA	0.517000													12	76					0	0	0.002450	0	0
ZNF547	284306	broad.mit.edu	37	19	57883173	57883173	+	Silent	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr19:57883173G>T	ENST00000282282.3	+	3	198	c.48G>T	c.(46-48)gtG>gtT	p.V16V	AC003002.4_ENST00000597658.1_Silent_p.V16V	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	16	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A17S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTGAAGACGTGGCCATATATT	0.433000													35	226					6.00712e-18	1.496e-17	0.012213	1	0
PDE6A	5145	broad.mit.edu	37	5	149286941	149286941	+	Splice_Site	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr5:149286941C>A	ENST00000255266.5	-	7	1118	c.998_splice	c.e7-1	p.P333_splice		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	333	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GAGGTGGATTCCTGTGAAGGC	0.502000													10	72					2.17888e-05	3.78744e-05	0.006214	1	0
ZNF679	168417	broad.mit.edu	37	7	63720641	63720641	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr7:63720641G>T	ENST00000421025.1	+	3	351	c.82G>T	c.(82-84)Gag>Tag	p.E28*	ZNF679_ENST00000255746.4_Nonsense_Mutation_p.E28*	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E28*(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATTCTCTCTGGAGGAGTGGCA	0.398000													13	89					7.03913e-09	1.42432e-08	0.013537	1	0
GAL3ST4	79690	broad.mit.edu	37	7	99758491	99758491	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr7:99758491G>A	ENST00000360039.4	-	4	913	c.521C>T	c.(520-522)tCc>tTc	p.S174F	GAL3ST4_ENST00000423751.1_Missense_Mutation_p.P73S|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.S112F|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.S174F|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.P73S	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	174					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	p.S174F(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGATGAGGTGGATTTATAGTA	0.572000													9	65					0	0	0.006214	0	0
SSR4	6748	broad.mit.edu	37	X	153060161	153060161	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chrX:153060161C>G	ENST00000320857.3	+	2	1103	c.19C>G	c.(19-21)Ctc>Gtc	p.L7V	SSR4_ENST00000370086.3_Missense_Mutation_p.L7V|SSR4_ENST00000460616.1_3'UTR|SSR4_ENST00000370085.3_Missense_Mutation_p.L7V|SSR4_ENST00000370087.1_Missense_Mutation_p.L7V	NM_001204526.1	NP_001191455.1	P51571	SSRD_HUMAN	signal sequence receptor, delta	7					intracellular protein transport	integral to membrane|Sec61 translocon complex	calcium ion binding|protein binding	p.L7V(1)		central_nervous_system(1)|endometrium(1)|lung(2)	4	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGGCATCTCTCGGCGCCCT	0.637000													18	14					0	0	0.007413	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905997	144905997	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chrX:144905997A>T	ENST00000370490.1	+	1	6309	c.2054A>T	c.(2053-2055)tAc>tTc	p.Y685F	SLITRK2_ENST00000428560.2_Missense_Mutation_p.Y685F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.Y685F|SLITRK2_ENST00000434188.2_Missense_Mutation_p.Y685F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.Y685F			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	685						integral to membrane		p.Y685F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCATGTCTACAACTATATC	0.473000													38	41					0	0	0.006999	0	0
CD19	930	broad.mit.edu	37	16	28947911	28947911	+	Silent	SNP	C	C	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr16:28947911C>T	ENST00000538922.1	+	7	1136	c.1074C>T	c.(1072-1074)acC>acT	p.T358T	CD19_ENST00000567541.1_Silent_p.T358T|CD19_ENST00000324662.3_Silent_p.T358T	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	358					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	p.T358T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CCACACCCACCTCAGGCCTCG	0.652000													7	26					0	0	0.003080	0	0
SLC4A10	57282	broad.mit.edu	37	2	162807357	162807357	+	Splice_Site	SNP	A	A	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr2:162807357A>T	ENST00000375514.5	+	19	2770	c.2484_splice	c.e19+1	p.K828_splice	SLC4A10_ENST00000446997.1_Splice_Site_p.K847_splice|SLC4A10_ENST00000272716.5_Splice_Site_p.K817_splice|SLC4A10_ENST00000415876.2_Splice_Site_p.K817_splice|SLC4A10_ENST00000421911.1_Splice_Site_p.K847_splice	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	847					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.K847M(1)|p.K817M(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CATAAGCTAAAGGTATATTTT	0.308000													6	13					0	0	0.001984	0	0
BOLL	66037	broad.mit.edu	37	2	198646541	198646541	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr2:198646541G>T	ENST00000321801.7	-	2	640	c.70C>A	c.(70-72)Cct>Act	p.P24T	BOLL_ENST00000430004.1_Missense_Mutation_p.P12T|BOLL_ENST00000392296.4_Missense_Mutation_p.P12T|BOLL_ENST00000282278.8_5'UTR|BOLL_ENST00000433157.1_Missense_Mutation_p.P12T	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	12					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity	p.P24N(1)|p.P12N(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						GGTGACACAGGATTAGGGGAT	0.398000													16	106					4.14922e-12	9.18502e-12	0.004007	1	0
ZC3H12C	85463	broad.mit.edu	37	11	110035384	110035384	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr11:110035384C>T	ENST00000453089.2	+	5	2362	c.1481C>T	c.(1480-1482)cCa>cTa	p.P494L	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.P526L|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.P525L			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	525							endonuclease activity|nucleic acid binding|zinc ion binding	p.P525L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GTTAGCATCCCAGCTACTTCT	0.448000													27	63					0	0	0.004656	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	by1000genomes	TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr13:25161397C>G	ENST00000453498.1	+	0	921																											TGAAACATCTCTACAACTGGA	0.343000													6	57					0	0	0.004482	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817780	77817780	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr4:77817780C>A	ENST00000334306.2	-	1	1222	c.1223G>T	c.(1222-1224)aGc>aTc	p.S408I		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	408								p.S408I(1)									CCCACTGCTGCTCTCCTCACT	0.582000													18	75					4.96729e-08	9.67314e-08	0.008871	1	0
RAB20	55647	broad.mit.edu	37	13	111176305	111176305	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr13:111176305C>A	ENST00000267328.3	-	2	625	c.412G>T	c.(412-414)Ggg>Tgg	p.G138W		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	138					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	p.G138W(2)		endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			ACACGGTCCCCAGCGTCCATA	0.572000													8	44					0.000157383	0.000262982	0.003080	1	0
RABEP1	9135	broad.mit.edu	37	17	5235390	5235390	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr17:5235390G>T	ENST00000262477.6	+	3	534	c.310G>T	c.(310-312)Gat>Tat	p.D104Y	RABEP1_ENST00000341923.6_Missense_Mutation_p.D104Y|RABEP1_ENST00000408982.2_Missense_Mutation_p.D104Y|RABEP1_ENST00000570487.1_3'UTR|RABEP1_ENST00000537505.1_Missense_Mutation_p.D61Y|RABEP1_ENST00000546142.2_Missense_Mutation_p.D104Y	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	104					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	p.D104Y(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGAAGCTATAGATGAAGTGAA	0.418000													15	51					2.32078e-09	4.7705e-09	0.003163	1	0
MS4A6A	64231	broad.mit.edu	37	11	59949055	59949055	+	Splice_Site	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr11:59949055C>A	ENST00000528851.1	-	2	286	c.147_splice	c.e2+1	p.G49_splice	MS4A6A_ENST00000323961.3_Splice_Site_p.G49_splice|MS4A6A_ENST00000529054.1_Splice_Site_p.G77_splice|MS4A6A_ENST00000533023.1_Splice_Site_p.G49_splice|MS4A6A_ENST00000420732.2_Splice_Site_p.G49_splice|MS4A6A_ENST00000426738.2_Splice_Site_p.G49_splice|MS4A6A_ENST00000530839.1_Splice_Site_p.G49_splice|MS4A6A_ENST00000532169.1_Splice_Site_p.G49_splice|MS4A6A_ENST00000412309.2_Splice_Site_p.G77_splice			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	49						integral to membrane	receptor activity	p.G49V(1)|p.G77V(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TAGATTTACCCCAATAACTTT	0.478000													14	100					2.61681e-11	5.69542e-11	0.002450	1	0
LCE3E	353145	broad.mit.edu	37	1	152538635	152538635	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:152538635G>T	ENST00000368789.1	-	2	105	c.50C>A	c.(49-51)cCc>cAc	p.P17H		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	17					keratinization			p.P17H(1)		lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		CTTGGGTGAGGGGCACTTGGG	0.592000													12	114					2.27111e-07	4.20155e-07	0.013537	1	0
CRY1	1407	broad.mit.edu	37	12	107391114	107391114	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr12:107391114C>T	ENST00000008527.5	-	10	2410	c.1543G>A	c.(1543-1545)Gga>Aga	p.G515R		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	515					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	p.G515R(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						GCAGAATATCCCATGAAGCCT	0.333000													18	276					0	0	0.012319	0	0
SETD5	55209	broad.mit.edu	37	3	9488802	9488802	+	Silent	SNP	G	G	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr3:9488802G>A	ENST00000402466.1	+	15	2067	c.1299G>A	c.(1297-1299)cgG>cgA	p.R433R	SETD5_ENST00000402198.1_Silent_p.R531R|SETD5_ENST00000302463.6_Silent_p.R433R|SETD5_ENST00000407969.1_Silent_p.R550R|SETD5_ENST00000406341.1_Silent_p.R531R			Q9C0A6	SETD5_HUMAN	SET domain containing 5	531								p.R531R(1)|p.R433R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAAAGAAGCGGCGGGATCAGC	0.443000													37	37					0	0	0.003755	0	0
ZIM3	114026	broad.mit.edu	37	19	57647012	57647012	+	Silent	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr19:57647012G>T	ENST00000269834.1	-	5	1078	c.693C>A	c.(691-693)gcC>gcA	p.A231A		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A231A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTGCTTGTAGGCATTTCCAC	0.408000													28	136					1.75199e-13	4.12513e-13	0.007291	1	0
NLRP10	338322	broad.mit.edu	37	11	7981827	7981827	+	Silent	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr11:7981827G>T	ENST00000328600.2	-	2	1493	c.1332C>A	c.(1330-1332)gcC>gcA	p.A444A		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	444	NACHT.						ATP binding	p.A444A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCAGGAAAGCGGCAAGCCTGG	0.488000													19	144					1.22574e-08	2.44205e-08	0.014323	1	0
STPG2	285555	broad.mit.edu	37	4	99055589	99055589	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr4:99055589G>A	ENST00000295268.3	-	2	220	c.131C>T	c.(130-132)tCt>tTt	p.S44F		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2									p.S44F(1)									GGCAGTCAAAGAAAGAAATGG	0.353000													9	99					0	0	0.006214	0	0
OR4C46	119749	broad.mit.edu	37	11	51515433	51515433	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr11:51515433C>A	ENST00000328188.1	+	1	152	c.152C>A	c.(151-153)cCa>cAa	p.P51Q		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P51Q(2)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ACTGCCAGCCCATCACTGGGG	0.448000													41	238					1.8453e-21	4.97846e-21	0.010771	1	0
AGL	178	broad.mit.edu	37	1	100343333	100343333	+	Silent	SNP	C	C	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:100343333C>T	ENST00000294724.4	+	12	2038	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F	AGL_ENST00000361522.4_Silent_p.F503F|AGL_ENST00000361915.3_Silent_p.F520F|AGL_ENST00000370165.3_Silent_p.F520F|AGL_ENST00000370163.3_Silent_p.F520F|AGL_ENST00000370161.2_Silent_p.F504F|AGL_ENST00000361302.3_Silent_p.F504F	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	520					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	p.F520F(1)		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)		CAACTTATTTCCAGGGAGTAC	0.393000													16	67					0	0	0.006122	0	0
ZNF630	57232	broad.mit.edu	37	X	47918714	47918714	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chrX:47918714T>G	ENST00000276054.4	-	5	1679	c.745A>C	c.(745-747)Aag>Cag	p.K249Q	ZNF630_ENST00000442455.3_Missense_Mutation_p.K359Q|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000409324.3_Missense_Mutation_p.K373Q			Q2M218	ZN630_HUMAN	zinc finger protein 630	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K373Q(1)		endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TCAAAGGGCTTCTCTCTGGTA	0.418000													28	19					0	0	0.009535	0	0
IGHV3-13	28449	broad.mit.edu	37	14	106586415	106586415	+	RNA	SNP	C	C	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr14:106586415C>T	ENST00000390602.2	-	0	149																											CCAGACTCCACCAGCTGCACC	0.547000													31	166					0	0	0.003271	0	0
PKD2L1	9033	broad.mit.edu	37	10	102057200	102057200	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr10:102057200G>A	ENST00000318222.3	-	5	1277	c.895C>T	c.(895-897)Cga>Tga	p.R299*	PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Nonsense_Mutation_p.R299*	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	299					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	p.R299*(1)		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)		AACACCACTCGAGTGCCCCTG	0.572000													15	74					0	0	0.006122	0	0
MAN1A2	10905	broad.mit.edu	37	1	118003128	118003128	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:118003128G>T	ENST00000356554.3	+	7	1703	c.968G>T	c.(967-969)tGg>tTg	p.W323L		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	323					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.W323L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		GGGCGAAACTGGGGCTGGGCA	0.423000													32	94					9.65963e-10	2.05069e-09	0.003271	1	0
CYP2S1	29785	broad.mit.edu	37	19	41703808	41703808	+	Silent	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr19:41703808G>T	ENST00000310054.4	+	3	684	c.468G>T	c.(466-468)ctG>ctT	p.L156L	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	156					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	p.L156L(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CCCGGTGTCTGGTGGAGACAT	0.632000													6	33					4.096e-09	8.35326e-09	0.001168	1	0
ZNF547	284306	broad.mit.edu	37	19	57883174	57883174	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr19:57883174G>T	ENST00000282282.3	+	3	199	c.49G>T	c.(49-51)Gcc>Tcc	p.A17S	AC003002.4_ENST00000597658.1_Missense_Mutation_p.A17S	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A17S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGAAGACGTGGCCATATATTT	0.433000													35	227					1.22384e-17	3.01879e-17	0.013726	1	0
ATM	472	broad.mit.edu	37	11	108123623	108123623	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr11:108123623C>T	ENST00000278616.4	+	12	2267	c.1882C>T	c.(1882-1884)Caa>Taa	p.Q628*	ATM_ENST00000452508.2_Nonsense_Mutation_p.Q628*	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	628					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.Q628*(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAATTTTTTCCAAAGCGTGCC	0.318000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			7	59					0	0	0.003080	0	0
TXNIP	10628	broad.mit.edu	37	1	145438883	145438883	+	Silent	SNP	G	G	T			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:145438883G>T	ENST00000369317.4	+	1	415	c.81G>T	c.(79-81)gtG>gtT	p.V27V	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	27					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.V27V(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGAGAAGGTGGCTGGCCGGG	0.507000													60	65					1.14385e-22	3.11851e-22	0.014410	1	0
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCTGCT	rs58327065		TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr1:154842199_154842200insGCTGCT	ENST00000271915.3	-	1	556_557	c.241_242insAGCAGC	c.(241-243)acc>AGCAGCacc	p.80_81insSS		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Poly-Gln.					integral to membrane	calmodulin binding	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGGATGCGGTGgctgctgctgc	0.698													2	4	---	---	---	---					
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs3045983		TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr5:79950742_79950750delCCCCCAGCT	ENST00000265081.6	+	1	276_284	c.196_204delCCCCCAGCT	c.(196-204)del	p.PPA66del	DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	66					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)					4	9	---	---	---	---					
HOXA5	3202	broad.mit.edu	37	7	27182704	27182704	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr7:27182704delG	ENST00000222726.3	-	1	583	c.523delC	c.(523-525)agfs	p.Q175fs	HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	175					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GGGTAGATCTGGGGTTGGGCG	0.692													36	278	---	---	---	---					
SMARCD1	6602	broad.mit.edu	37	12	50479213	50479213	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr12:50479213delG	ENST00000394963.4	+	1	459	c.61delG	c.(61-63)ggfs	p.G21fs	SMARCD1_ENST00000381513.4_Frame_Shift_Del_p.G21fs	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	21					chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						AGCCTCAGGAGGGGCGGGCGC	0.736													2	4	---	---	---	---					
FBN1	2200	broad.mit.edu	37	15	48757810	48757811	+	In_Frame_Ins	INS	-	-	GCG			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr15:48757810_48757811insGCG	ENST00000316623.5	-	40	5351_5352	c.4896_4897insCGC	c.(4894-4899)cggtcc>cgCGCgtcc	p.1632_1633RS>RAS		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1632	EGF-like 27; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCGGTTGGACAGCGGCACTGGA	0.460													7	120	---	---	---	---					
ABCC11	85320	broad.mit.edu	37	16	48244967	48244967	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr16:48244967delG	ENST00000394747.1	-	10	1849	c.1500delC	c.(1498-1500)aafs	p.N500fs	ABCC11_ENST00000537808.1_Frame_Shift_Del_p.N500fs|ABCC11_ENST00000356608.2_Frame_Shift_Del_p.N500fs|ABCC11_ENST00000394748.1_Frame_Shift_Del_p.N500fs|ABCC11_ENST00000353782.5_Frame_Shift_Del_p.N500fs	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	500						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AAGCATGCCCGTTCCTCTCCA	0.592													16	60	---	---	---	---					
IGFLR1	79713	broad.mit.edu	37	19	36231408	36231408	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr19:36231408delG	ENST00000592537.1	-	3	315	c.215delC	c.(214-216)cgfs	p.P72fs	AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000246532.1_Frame_Shift_Del_p.P72fs|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000587101.1_5'UTR			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	72						integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						CTTTCGGAACGGGGGCGTTAC	0.672													7	53	---	---	---	---					
PEG3	5178	broad.mit.edu	37	19	57327542	57327542	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chr19:57327542delG	ENST00000326441.9	-	10	2631	c.2268delC	c.(2266-2268)ccfs	p.P756fs	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Frame_Shift_Del_p.P630fs|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Frame_Shift_Del_p.P756fs|PEG3_ENST00000598410.1_Frame_Shift_Del_p.P632fs|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	756					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTTTTCATAGGGGTTAGAGC	0.408													37	203	---	---	---	---					
MID1IP1	58526	broad.mit.edu	37	X	38664680	38664681	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-55-6642-01A-11D-1855-08	TCGA-55-6642-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf	27666212-a211-4433-9589-528f3108ef48	g.chrX:38664680_38664681delCT	ENST00000336949.6	+	2	1426_1427	c.481_482delCT	c.(481-483)cfs	p.L161fs	MID1IP1_ENST00000378474.3_Frame_Shift_Del_p.L161fs|MID1IP1_ENST00000457894.1_Frame_Shift_Del_p.L161fs	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	161					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						GCTCTCGAAACTCACGCGCAAA	0.624													7	10	---	---	---	---					
