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
PLEC	5339	broad.mit.edu	37	8	144991068	144991068	+	Silent	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr8:144991068C>T	ENST00000322810.4	-	32	13501	c.13332G>A	c.(13330-13332)acG>acA	p.T4444T	PLEC_ENST00000356346.3_Silent_p.T4293T|PLEC_ENST00000527096.1_Silent_p.T4330T|PLEC_ENST00000436759.2_Silent_p.T4334T|PLEC_ENST00000357649.2_Silent_p.T4311T|PLEC_ENST00000345136.3_Silent_p.T4307T|PLEC_ENST00000354958.2_Silent_p.T4285T|PLEC_ENST00000354589.3_Silent_p.T4307T|PLEC_ENST00000398774.2_Silent_p.T4275T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4444	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCGCTGCCCCGTGATGTTAT	0.677000													3	47					0	0	0.009096	0	0
CIDECP	152302	broad.mit.edu	37	3	10059555	10059555	+	RNA	SNP	T	T	A	rs1053235		TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:10059555T>A	ENST00000432401.1	-	0	505																											GTGGGGCCCCTAGTCTAGTCC	0.607000													9	24					0	0	0.047766	0	0
RYR2	6262	broad.mit.edu	37	1	237969504	237969504	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:237969504C>T	ENST00000366574.2	+	99	14536	c.14219C>T	c.(14218-14220)gCc>gTc	p.A4740V	RYR2_ENST00000542537.1_Missense_Mutation_p.A4724V|RYR2_ENST00000360064.6_Missense_Mutation_p.A4746V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4740					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTTTTTTTGCCGCTCACCTT	0.403000													3	29					0	0	0.115264	0	0
PC	5091	broad.mit.edu	37	11	66617416	66617416	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:66617416G>A	ENST00000393960.1	-	20	3171	c.2890C>T	c.(2890-2892)Cgc>Tgc	p.R964C	PC_ENST00000529047.1_Missense_Mutation_p.R84C|PC_ENST00000393955.2_Missense_Mutation_p.R964C|PC_ENST00000393958.2_Missense_Mutation_p.R964C	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	964					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ACCTTAGAGCGAAAGGGTTCG	0.627000													10	31					0	0	0.080935	0	0
ZNF763	284390	broad.mit.edu	37	19	12089308	12089308	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr19:12089308G>A	ENST00000343949.5	+	4	733	c.578G>A	c.(577-579)cGc>cAc	p.R193H	ZNF763_ENST00000538752.1_Missense_Mutation_p.R210H|ZNF763_ENST00000358987.3_Missense_Mutation_p.R190H|ZNF763_ENST00000545530.1_Missense_Mutation_p.R68H|ZNF763_ENST00000590798.1_Missense_Mutation_p.R210H	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						ATTCGAAGACGCATGGTAATG	0.408000													40	94					0	0	0.098360	0	0
GPR75	10936	broad.mit.edu	37	2	54080512	54080512	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr2:54080512G>A	ENST00000394705.2	-	2	1652	c.1382C>T	c.(1381-1383)tCt>tTt	p.S461F	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	461						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATGTCCAGCAGAGATCTTGGG	0.488000													16	134					0	0	0.132662	0	0
SETD2	29072	broad.mit.edu	37	3	47147603	47147603	+	Missense_Mutation	SNP	A	A	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:47147603A>T	ENST00000409792.3	-	6	4765	c.4723T>A	c.(4723-4725)Ttt>Att	p.F1575I		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1575	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTAGGACAAAGGTGTTCCTG	0.363000			"""N, F, S, Mis"""		clear cell renal carcinoma								10	26					0	0	0.080935	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800175	74800175	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:74800175G>C	ENST00000305159.3	-	1	624	c.584C>G	c.(583-585)tCt>tGt	p.S195C		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGTGGTGTCAGAGCAGGAGGC	0.567000													3	34					0	0	0.009096	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195639	18195639	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:18195639G>C	ENST00000314254.3	+	1	1256	c.836G>C	c.(835-837)aGg>aCg	p.R279T	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	279						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GGCTCCTTTAGGCAGCGTCAA	0.488000													13	66					0	0	0.132662	0	0
DPP8	54878	broad.mit.edu	37	15	65793046	65793046	+	Silent	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr15:65793046G>A	ENST00000341861.5	-	4	2072	c.492C>T	c.(490-492)gtC>gtT	p.V164V	DPP8_ENST00000559233.1_Silent_p.V164V|DPP8_ENST00000358939.4_Silent_p.V148V|DPP8_ENST00000339244.5_Silent_p.V164V|DPP8_ENST00000321147.6_Silent_p.V164V|DPP8_ENST00000300141.6_Silent_p.V148V|DPP8_ENST00000321118.7_Silent_p.V164V	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	164					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAGCAATTCCGACTGTTCCAA	0.398000													40	82					0	0	0.074837	0	0
GHSR	2693	broad.mit.edu	37	3	172165820	172165820	+	Silent	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:172165820G>A	ENST00000241256.2	-	1	426	c.384C>T	c.(382-384)taC>taT	p.Y128Y	GHSR_ENST00000427970.1_Silent_p.Y128Y	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	128					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCACCGTGGCGTAGGTGCAGC	0.632000													8	19					0	0	0.038147	0	0
KIRREL	55243	broad.mit.edu	37	1	158047906	158047906	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:158047906C>T	ENST00000368173.3	+	3	732	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	KIRREL_ENST00000359209.6_Missense_Mutation_p.R110W|KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000360089.4_Missense_Mutation_p.R49W|KIRREL_ENST00000392272.2_Missense_Mutation_p.R110W	NM_018240.5	NP_060710.3	Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	110	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCTGCGCTCTCGGCGGGCCAA	0.607000													9	117					0	0	0.058154	0	0
CUL5	8065	broad.mit.edu	37	11	107925516	107925516	+	Missense_Mutation	SNP	A	A	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:107925516A>T	ENST00000393094.2	+	6	1312	c.696A>T	c.(694-696)aaA>aaT	p.K232N		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	232					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ATTATATGAAATATGTAAGTT	0.323000													15	25					0	0	0.119110	0	0
USP9X	8239	broad.mit.edu	37	X	41075168	41075168	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:41075168G>A	ENST00000324545.7	+	35	5981	c.5348G>A	c.(5347-5349)cGc>cAc	p.R1783H	USP9X_ENST00000378308.2_Missense_Mutation_p.R1783H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1783					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACCGTAAAGCGCTTGCTGATT	0.318000													4	46					0	0	0.014758	0	0
TUSC5	286753	broad.mit.edu	37	17	1183494	1183494	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr17:1183494G>A	ENST00000333813.3	+	1	538	c.199G>A	c.(199-201)Gag>Aag	p.E67K		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	67					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCCATCTCCGAGGGGCACCT	0.632000													17	54					0	0	0.146539	0	0
TBC1D5	9779	broad.mit.edu	37	3	17226630	17226630	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:17226630T>C	ENST00000253692.7	-	19	3487	c.1823A>G	c.(1822-1824)tAc>tGc	p.Y608C	TBC1D5_ENST00000429383.4_Missense_Mutation_p.Y608C|TBC1D5_ENST00000446818.2_Missense_Mutation_p.Y630C|TBC1D5_ENST00000429924.2_Missense_Mutation_p.Y582C|TBC1D5_ENST00000414318.2_5'UTR	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	608						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CTTTGCACAGTATTTGCACAT	0.398000													18	50					0	0	0.069288	0	0
TRPM6	140803	broad.mit.edu	37	9	77370340	77370340	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr9:77370340G>A	ENST00000451710.3	-	28	5072	c.4835C>T	c.(4834-4836)cCa>cTa	p.P1612L	TRPM6_ENST00000376872.3_Missense_Mutation_p.P563L|TRPM6_ENST00000360774.1_Missense_Mutation_p.P1612L|TRPM6_ENST00000361255.3_Missense_Mutation_p.P1607L|TRPM6_ENST00000449912.2_Missense_Mutation_p.P1607L|TRPM6_ENST00000376864.4_Missense_Mutation_p.P1612L|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1612					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTTTTCTCCTGGCTCTGGATT	0.423000													26	66					0	0	0.091800	0	0
ZNF419	79744	broad.mit.edu	37	19	58004287	58004287	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr19:58004287G>A	ENST00000424930.2	+	5	594	c.365G>A	c.(364-366)aGt>aAt	p.S122N	ZNF419_ENST00000442920.2_Missense_Mutation_p.S108N|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000221735.7_Missense_Mutation_p.S121N|ZNF419_ENST00000347466.6_Missense_Mutation_p.S89N|ZNF419_ENST00000415379.2_Missense_Mutation_p.S75N|ZNF419_ENST00000426954.2_Missense_Mutation_p.S109N|ZNF419_ENST00000354197.4_Missense_Mutation_p.S109N	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		GGACTGCTCAGTTCAAACATT	0.473000													6	27					0	0	0.021553	0	0
UNC13A	23025	broad.mit.edu	37	19	17768990	17768990	+	Silent	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr19:17768990C>T	ENST00000428389.2	-	10	911	c.912G>A	c.(910-912)acG>acA	p.T304T	UNC13A_ENST00000551649.1_Silent_p.T216T|UNC13A_ENST00000552293.1_Silent_p.T216T|UNC13A_ENST00000550896.1_Silent_p.T216T|UNC13A_ENST00000252773.7_Silent_p.T216T|UNC13A_ENST00000519716.2_Silent_p.T216T			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	216					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGGGTTGTGACGTAGTATAAT	0.557000													3	31					0	0	0.009096	0	0
ZDHHC16	84287	broad.mit.edu	37	10	99211482	99211482	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr10:99211482G>A	ENST00000393760.1	+	3	399	c.50G>A	c.(49-51)cGc>cAc	p.R17H	ZDHHC16_ENST00000352634.4_Missense_Mutation_p.R17H|ZDHHC16_ENST00000370846.4_Missense_Mutation_p.R17H|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.R17H|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.R17H|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.R17H|ZDHHC16_ENST00000370854.3_Missense_Mutation_p.R17H	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	17					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		CTCTGCCTCCGCCTCCTTCTG	0.667000													16	23					0	0	0.038395	0	0
BMP6	654	broad.mit.edu	37	6	7727808	7727808	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr6:7727808C>T	ENST00000283147.6	+	1	779	c.620C>T	c.(619-621)gCc>gTc	p.A207V		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	207					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CAGGACAGCGCCTTCCTCAAC	0.647000													5	14					0	0	0.029380	0	0
SORCS3	22986	broad.mit.edu	37	10	106976783	106976783	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr10:106976783C>G	ENST00000369701.3	+	19	2864	c.2637C>G	c.(2635-2637)atC>atG	p.I879M	SORCS3_ENST00000369699.4_Missense_Mutation_p.I165M	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	879	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGGACGGCATCAAGCACGTGT	0.517000													13	35					0	0	0.105934	0	0
CSMD3	114788	broad.mit.edu	37	8	113353856	113353856	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr8:113353856G>A	ENST00000297405.5	-	42	6746	c.6502C>T	c.(6502-6504)Cga>Tga	p.R2168*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R2098*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.R2064*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R2128*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2168	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATCCACTTCGTACTTCCAAA	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	18					0	0	0.105934	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230437	140230437	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr5:140230437C>T	ENST00000378122.3	+	1	3081	c.2357C>T	c.(2356-2358)aCg>aTg	p.T786M	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.T786M|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAGCGAACGGGAGAACCC	0.463000													17	53					0	0	0.033300	0	0
GDA	9615	broad.mit.edu	37	9	74838108	74838108	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr9:74838108G>A	ENST00000358399.3	+	7	772	c.679G>A	c.(679-681)Ggc>Agc	p.G227S	GDA_ENST00000376986.1_Intron|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376989.3_Intron|GDA_ENST00000545168.1_Missense_Mutation_p.G153S|GDA_ENST00000238018.4_Missense_Mutation_p.G227S	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	227					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GGGTGAACTGGGCAACATTGC	0.428000													15	63					0	0	0.038395	0	0
OR10X1	128367	broad.mit.edu	37	1	158549570	158549570	+	Silent	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:158549570C>T	ENST00000368150.1	-	1	119	c.120G>A	c.(118-120)caG>caA	p.Q40Q		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AAAGAAATGTCTGTACATGTG	0.423000													6	78					0	0	0.021553	0	0
TTN	7273	broad.mit.edu	37	2	179584490	179584490	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr2:179584490C>A	ENST00000589042.1	-	82	23953	c.23729G>T	c.(23728-23730)tGt>tTt	p.C7910F	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.C6666F|TTN_ENST00000591111.1_Missense_Mutation_p.C7593F|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7593	Ig-like 61.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCACTACACACTCTAATGC	0.398000													4	54					0.00024832	0.000255031	0.009096	1	0
NPAS3	64067	broad.mit.edu	37	14	34263139	34263139	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr14:34263139G>A	ENST00000346562.2	+	9	1168	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H	NPAS3_ENST00000551492.1_Missense_Mutation_p.R402H|NPAS3_ENST00000548645.1_Missense_Mutation_p.R367H|NPAS3_ENST00000357798.5_Missense_Mutation_p.R384H|NPAS3_ENST00000356141.4_Missense_Mutation_p.R397H	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	397	PAC.|PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AAGTACTATCGCTGGATGCAG	0.373000													10	47					0	0	0.069234	0	0
MYCBP2	23077	broad.mit.edu	37	13	77651324	77651324	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr13:77651324C>T	ENST00000407578.2	-	67	11949	c.11683G>A	c.(11683-11685)Gaa>Aaa	p.E3895K	MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000596342.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E3857K|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E3857K	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3857					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTCTCAGCTTCACAGTTCCTC	0.433000													14	33					0	0	0.132662	0	0
SLC7A10	56301	broad.mit.edu	37	19	33702376	33702376	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr19:33702376C>A	ENST00000253188.3	-	6	1002	c.856G>T	c.(856-858)Gcc>Tcc	p.A286S		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	286					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GTGAAGTAGGCAATGTTGGTG	0.627000													5	20					0.000602214	0.000611876	0.014758	1	0
RLBP1	6017	broad.mit.edu	37	15	89754989	89754989	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr15:89754989C>T	ENST00000268125.5	-	7	1108	c.669G>A	c.(667-669)atG>atA	p.M223I		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	223	CRAL-TRIO.				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	GCATGTCCACCATCTTCCTGA	0.547000													3	40					0	0	0.014758	0	0
EPHA3	2042	broad.mit.edu	37	3	89468369	89468369	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:89468369G>T	ENST00000336596.2	+	11	2128	c.1903G>T	c.(1903-1905)Gtg>Ttg	p.V635L	EPHA3_ENST00000494014.1_Missense_Mutation_p.V635L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	635	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATTTGGAGAGGTGTGCAGTGG	0.363000										TSP Lung(6;0.00050)			25	41					7.92952e-12	8.81058e-12	0.091800	1	0
COPS7A	50813	broad.mit.edu	37	12	6839587	6839587	+	Missense_Mutation	SNP	G	G	A	rs144125600		TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr12:6839587G>A	ENST00000543155.1	+	6	1032	c.550G>A	c.(550-552)Gtg>Atg	p.V184M	COPS7A_ENST00000542150.1_3'UTR|COPS7A_ENST00000229251.3_Missense_Mutation_p.V184M|COPS7A_ENST00000534947.1_Missense_Mutation_p.V184M|COPS7A_ENST00000534877.1_Missense_Mutation_p.V184M|COPS7A_ENST00000538410.1_Missense_Mutation_p.V184M|COPS7A_ENST00000539735.1_Missense_Mutation_p.V184M	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	184					cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						CTGTGAGGTCGTGCTGTCAGG	0.567000													4	73					0	0	0.009096	0	0
SUN1	23353	broad.mit.edu	37	7	883126	883126	+	Silent	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr7:883126G>A	ENST00000456758.2	+	8	801	c.801G>A	c.(799-801)tcG>tcA	p.S267S	SUN1_ENST00000389574.3_Silent_p.S159S|SUN1_ENST00000403868.1_Silent_p.S209S|SUN1_ENST00000405266.1_Silent_p.S209S|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000425407.2_Silent_p.S159S|SUN1_ENST00000401592.1_Silent_p.S209S|SUN1_ENST00000457378.2_Silent_p.S230S			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	209	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	p.S159S(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCCCGTGTCGAGAGTTTATT	0.522000													47	144					0	0	0.139131	0	0
MAP7D3	79649	broad.mit.edu	37	X	135313731	135313731	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:135313731G>A	ENST00000316077.9	-	8	1605	c.1385C>T	c.(1384-1386)cCc>cTc	p.P462L	MAP7D3_ENST00000370661.1_Missense_Mutation_p.P427L|MAP7D3_ENST00000370663.5_Missense_Mutation_p.P444L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	462						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TTTTGCCTTGGGAGATGCTTC	0.448000													34	90					0	0	0.069456	0	0
HUWE1	10075	broad.mit.edu	37	X	53577938	53577938	+	Silent	SNP	C	C	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:53577938C>A	ENST00000342160.3	-	64	9766	c.9309G>T	c.(9307-9309)cgG>cgT	p.R3103R	HUWE1_ENST00000262854.6_Silent_p.R3103R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3103					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCTGTCGCTGCCGGGCTTCTT	0.582000													12	41					1.08611e-07	1.16588e-07	0.080935	1	0
MYO1C	4641	broad.mit.edu	37	17	1387576	1387576	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr17:1387576G>A	ENST00000359786.5	-	2	421	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	MYO1C_ENST00000575158.1_5'UTR|MYO1C_ENST00000438665.2_Missense_Mutation_p.R14W|MYO1C_ENST00000361007.2_5'UTR|MYO1C_ENST00000545534.2_Missense_Mutation_p.R9W	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	33					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ATGGTCACCCGAACCCCGTCA	0.652000													6	24					0	0	0.021553	0	0
IQSEC2	23096	broad.mit.edu	37	X	53279948	53279948	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:53279948C>T	ENST00000396435.3	-	5	2010	c.1810G>A	c.(1810-1812)Gtg>Atg	p.V604M	IQSEC2_ENST00000375365.2_Missense_Mutation_p.V399M|IQSEC2_ENST00000375368.5_Missense_Mutation_p.V594M	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	594	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CTCAGGTCCACGGAGCTGTCA	0.657000													7	11					0	0	0.029380	0	0
DIS3	22894	broad.mit.edu	37	13	73349468	73349468	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr13:73349468C>G	ENST00000377767.4	-	6	968	c.868G>C	c.(868-870)Gat>Cat	p.D290H	DIS3_ENST00000377780.4_Missense_Mutation_p.D260H|DIS3_ENST00000545453.1_Missense_Mutation_p.D128H	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	290					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		GCCACAATATCTTCGTGAACA	0.388000										Multiple Myeloma(4;0.011)			18	65					0	0	0.049695	0	0
FAM47A	158724	broad.mit.edu	37	X	34149053	34149053	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:34149053C>T	ENST00000346193.3	-	1	1394	c.1343G>A	c.(1342-1344)cGg>cAg	p.R448Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	448										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTTCTTCACCCGGGCCTCACA	0.562000													7	59					0	0	0.038147	0	0
PLCL2	23228	broad.mit.edu	37	3	17056295	17056295	+	Silent	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:17056295C>T	ENST00000418129.2	+	3	2997	c.2532C>T	c.(2530-2532)ccC>ccT	p.P844P	PLCL2_ENST00000396755.2_Silent_p.P844P|PLCL2_ENST00000432376.1_Silent_p.P844P	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	970	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TTCTGGGGCCCGATAACACAC	0.542000													43	115					0	0	0.104719	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49127007	49127007	+	Silent	SNP	T	T	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:49127007T>A	ENST00000055335.6	+	1	691	c.675T>A	c.(673-675)ggT>ggA	p.G225G	PPP1R3F_ENST00000438316.1_Intron|PPP1R3F_ENST00000466508.1_Intron|PPP1R3F_ENST00000495799.1_Intron	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	225	CBM21.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					TCGGCCTGGGTCCCGGCCAGG	0.751000													7	13					0	0	0.029380	0	0
PLXNA4	91584	broad.mit.edu	37	7	131849918	131849918	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr7:131849918G>A	ENST00000359827.3	-	23	5290	c.4328C>T	c.(4327-4329)aCt>aTt	p.T1443I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.T1443I			Q9HCM2	PLXA4_HUMAN	plexin A4	1443						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GAGGAGGAAAGTAAACCAATT	0.517000													19	47					0	0	0.069288	0	0
RYR3	6263	broad.mit.edu	37	15	33962690	33962690	+	Silent	SNP	T	T	G			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr15:33962690T>G	ENST00000389232.4	+	38	5863	c.5793T>G	c.(5791-5793)gtT>gtG	p.V1931V	RYR3_ENST00000415757.3_Silent_p.V1931V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1931	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTGCCTTGGTTTACAAAATCA	0.522000													10	35					0	0	0.069234	0	0
CADM2	253559	broad.mit.edu	37	3	85932554	85932554	+	Missense_Mutation	SNP	A	A	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:85932554A>T	ENST00000383699.3	+	4	979	c.352A>T	c.(352-354)Atg>Ttg	p.M118L	CADM2_ENST00000405615.2_Missense_Mutation_p.M111L|CADM2_ENST00000407528.2_Missense_Mutation_p.M109L	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	109	Ig-like V-type.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TTTATTTACAATGCCTGTCAA	0.428000													13	22					0	0	0.105934	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110412468	110412468	+	Silent	SNP	T	T	C			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr8:110412468T>C	ENST00000378402.5	+	13	1280	c.1176T>C	c.(1174-1176)ttT>ttC	p.F392F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	392					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGCACGCTTTAGTGGATTTT	0.418000										HNSCC(38;0.096)			23	228					0	0	0.099896	0	0
OR6C65	403282	broad.mit.edu	37	12	55794794	55794794	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr12:55794794G>A	ENST00000379665.2	+	1	581	c.482G>A	c.(481-483)gGc>gAc	p.G161D		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GTGATTATGGGCCTCCAACTG	0.433000													75	163					0	0	0.139131	0	0
MEF2C	4208	broad.mit.edu	37	5	88027717	88027717	+	Splice_Site	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr5:88027717C>T	ENST00000504921.2	-	7	1311	c.637_splice	c.e7-1	p.G213_splice	MEF2C_ENST00000514028.1_Splice_Site_p.G213_splice|MEF2C_ENST00000539796.1_Splice_Site_p.G165_splice|MEF2C_ENST00000437473.2_Splice_Site_p.G213_splice|MEF2C_ENST00000510942.1_Splice_Site_p.G213_splice|MEF2C_ENST00000506554.1_Splice_Site_p.G213_splice|MEF2C_ENST00000424173.2_Splice_Site_p.G211_splice|MEF2C_ENST00000508569.1_Splice_Site_p.G213_splice|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000514015.1_Splice_Site_p.G213_splice|MEF2C_ENST00000340208.5_Splice_Site_p.G231_splice			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	213					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CATACCCGTTCCCTGTTAACA	0.388000										HNSCC(66;0.2)			6	11					0	0	0.029380	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378489	114378489	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr6:114378489G>A	ENST00000312719.5	-	5	2161	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.R325C|RP3-399L15.3_ENST00000519270.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	325					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		AAGAATTTGCGCAATTTAGTA	0.408000													23	44					0	0	0.083992	0	0
LTBP1	4052	broad.mit.edu	37	2	33413884	33413884	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr2:33413884T>C	ENST00000404816.2	+	7	2020	c.1667T>C	c.(1666-1668)cTt>cCt	p.L556P	LTBP1_ENST00000407925.1_Missense_Mutation_p.L230P|LTBP1_ENST00000390003.4_Missense_Mutation_p.L230P|LTBP1_ENST00000354476.3_Missense_Mutation_p.L556P|LTBP1_ENST00000404525.1_Missense_Mutation_p.L230P|LTBP1_ENST00000402934.1_Missense_Mutation_p.L230P|LTBP1_ENST00000418533.2_Missense_Mutation_p.L230P			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	556					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGACACAGCTTGGCCGGTGC	0.498000													36	80					0	0	0.086207	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254629	30254629	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:30254629G>T	ENST00000361644.2	+	5	1325	c.588G>T	c.(586-588)agG>agT	p.R196S	MAGEB3_ENST00000378986.1_Missense_Mutation_p.R196S	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	196	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CTCGTGGGAGGGGATTTCCCA	0.468000													12	35					6.40141e-05	6.68279e-05	0.080935	1	0
EIF3H	8667	broad.mit.edu	37	8	117658786	117658786	+	Silent	SNP	C	C	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr8:117658786C>A	ENST00000521861.1	-	7	908	c.885G>T	c.(883-885)ccG>ccT	p.P295P	EIF3H_ENST00000276682.4_Silent_p.P309P	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3, subunit H	295					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					CCTCAGGGAGCGGGGGTTCTC	0.527000													44	131					2.47872e-24	2.82011e-24	0.117977	1	0
ALOX5	240	broad.mit.edu	37	10	45941026	45941026	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr10:45941026G>A	ENST00000374391.2	+	14	1969	c.1916G>A	c.(1915-1917)cGc>cAc	p.R639H	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Missense_Mutation_p.R582H	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	639	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GCCCGATTCCGCAAGAACCTC	0.532000													7	52					0	0	0.029380	0	0
ASIC4	55515	broad.mit.edu	37	2	220397137	220397137	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr2:220397137G>A	ENST00000358078.4	+	4	1351	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q	ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000347842.3_Missense_Mutation_p.R446Q			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	446						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										TCTGCCTGCCGGCTGCGCTGT	0.677000													15	24					0	0	0.146539	0	0
ZNF479	90827	broad.mit.edu	37	7	57188354	57188354	+	Silent	SNP	A	A	G			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr7:57188354A>G	ENST00000331162.4	-	5	1038	c.768T>C	c.(766-768)ctT>ctC	p.L256L		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TATGTCTAGTAAGGTTTGCAG	0.428000													6	32					0	0	0.080935	0	0
ZNF883	169834	broad.mit.edu	37	9	115760171	115760171	+	RNA	SNP	T	T	G			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr9:115760171T>G	ENST00000427548.1	-	0	1642							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AAGGATAGGGTTTTTCTCCAG	0.378000													3	45					0	0	0.115264	0	0
S1PR4	8698	broad.mit.edu	37	19	3179595	3179595	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr19:3179595G>A	ENST00000246115.3	+	1	860	c.805G>A	c.(805-807)Ggg>Agg	p.G269R		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	269					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CCCACTCTTCGGGCTGCTGCT	0.697000													31	56					0	0	0.045705	0	0
FBXO10	26267	broad.mit.edu	37	9	37518327	37518327	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr9:37518327C>T	ENST00000432825.2	-	9	2357	c.2309G>A	c.(2308-2310)cGa>cAa	p.R770Q	FBXO10_ENST00000541829.1_Missense_Mutation_p.R295Q|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	770						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GTTGGCCACTCGGGTGGGTTG	0.567000													14	26					0	0	0.132662	0	0
CEP350	9857	broad.mit.edu	37	1	180080243	180080243	+	Missense_Mutation	SNP	A	A	G	rs150197968		TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:180080243A>G	ENST00000367607.3	+	38	9719	c.9301A>G	c.(9301-9303)Att>Gtt	p.I3101V	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	3101						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAAAGATACTATTGATGTTCT	0.463000													15	29					0	0	0.119110	0	0
STAG2	10735	broad.mit.edu	37	X	123196817	123196817	+	Silent	SNP	C	C	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:123196817C>A	ENST00000371160.1	+	18	1994	c.1704C>A	c.(1702-1704)gcC>gcA	p.A568A	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.A568A|STAG2_ENST00000371144.3_Silent_p.A568A|STAG2_ENST00000371157.3_Silent_p.A568A|STAG2_ENST00000354548.5_Silent_p.A499A|STAG2_ENST00000371145.3_Silent_p.A568A			Q8N3U4	STAG2_HUMAN	stromal antigen 2	568					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGCTTTTTGCCGTGGCCCTTC	0.358000													16	44					1.67942e-08	1.81301e-08	0.038395	1	0
PKD1L1	168507	broad.mit.edu	37	7	47944031	47944031	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr7:47944031G>T	ENST00000289672.2	-	12	1925	c.1875C>A	c.(1873-1875)gaC>gaA	p.D625E		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	625	PKD 2.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CATCCCCAAAGTCCCACAGGT	0.602000													13	25					2.27111e-07	2.41068e-07	0.093190	1	0
AHNAK2	113146	broad.mit.edu	37	14	105409647	105409647	+	Silent	SNP	G	G	C			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr14:105409647G>C	ENST00000333244.5	-	7	12260	c.12141C>G	c.(12139-12141)ctC>ctG	p.L4047L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4047						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTGCCCTTTGAGGCTGGCTC	0.627000													9	200					0	0	0.047766	0	0
ADPGK	83440	broad.mit.edu	37	15	73048712	73048712	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr15:73048712C>T	ENST00000311669.8	-	5	813	c.720G>A	c.(718-720)atG>atA	p.M240I	ADPGK_ENST00000567733.1_Intron	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	240	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						CCAGCATATTCATGGCCCCGT	0.537000													5	63					0	0	0.021553	0	0
DLGAP2	9228	broad.mit.edu	37	8	1626408	1626408	+	Missense_Mutation	SNP	G	G	A	rs34274599		TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr8:1626408G>A	ENST00000421627.2	+	9	2211	c.2077G>A	c.(2077-2079)Gtc>Atc	p.V693I		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	772					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TTCTAACAGCGTCACGGCCGC	0.557000													18	36					0	0	0.049695	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389491	150389491	+	Silent	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr7:150389491G>A	ENST00000223293.5	+	3	211	c.117G>A	c.(115-117)ggG>ggA	p.G39G		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	39						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGCTGCAGGGAACAGCATCC	0.512000													7	23					0	0	0.029380	0	0
TMEM184C	55751	broad.mit.edu	37	4	148554974	148554974	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr4:148554974C>T	ENST00000296582.3	+	9	1512	c.938C>T	c.(937-939)tCa>tTa	p.S313L	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	313						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TACACATTCTCATATAAACCA	0.368000													4	83					0	0	0.014758	0	0
PLXNB1	5364	broad.mit.edu	37	3	48460693	48460693	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:48460693C>G	ENST00000358536.4	-	12	3061	c.2792G>C	c.(2791-2793)cGg>cCg	p.R931P	PLXNB1_ENST00000358459.4_Missense_Mutation_p.R748P|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R748P|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R931P	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	931					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCGGATTTCCCGCTCCACATG	0.612000													9	12					0	0	0.069234	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056394	26056394	+	Missense_Mutation	SNP	A	A	C			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr6:26056394A>C	ENST00000343677.2	-	1	305	c.263T>G	c.(262-264)gTg>gGg	p.V88G		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	88	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCCCTTGCTCACCAGGCTCTT	0.532000													14	94					0	0	0.105934	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28557085	28557085	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:28557085G>A	ENST00000383768.2	+	8	945	c.757G>A	c.(757-759)Gat>Aat	p.D253N	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.D253N			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	253							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TGTTTATTCTGATGATGCCTT	0.308000													7	20					0	0	0.029380	0	0
PCDHA12	56137	broad.mit.edu	37	5	140257232	140257232	+	Silent	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr5:140257232G>A	ENST00000398631.2	+	1	2175	c.2175G>A	c.(2173-2175)gcG>gcA	p.A725A	PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGCTCAGCGCCGCCCACCG	0.647000													4	26					0	0	0.009096	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs148273194	by1000genomes	TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274								p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458000													7	175					0.00448238	0.00453007	0.047766	1	0
FCAMR	83953	broad.mit.edu	37	1	207135705	207135705	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:207135705G>A	ENST00000324852.4	-	5	979	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	FCAMR_ENST00000450945.2_Missense_Mutation_p.R169C|FCAMR_ENST00000400962.3_Missense_Mutation_p.R169C	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	124	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						AGGGCCACACGGTCACGATAG	0.572000													28	41					0	0	0.125774	0	0
WAPAL	23063	broad.mit.edu	37	10	88232379	88232379	+	Missense_Mutation	SNP	T	T	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr10:88232379T>A	ENST00000298767.5	-	6	2355	c.1883A>T	c.(1882-1884)gAa>gTa	p.E628V		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	628	Mediates interaction with the cohesin complex.|WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTCTTTGTCTTCTCGTCTGCA	0.358000													9	35					0	0	0.069234	0	0
FMO1	2326	broad.mit.edu	37	1	171250015	171250015	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:171250015C>G	ENST00000354841.4	+	5	849	c.718C>G	c.(718-720)Cag>Gag	p.Q240E	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.Q240E|FMO1_ENST00000402921.2_Missense_Mutation_p.Q177E			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	240					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GACACGCTTTCAGAACATGTT	0.493000													7	68					0	0	0.029380	0	0
ARL13A	392509	broad.mit.edu	37	X	100240718	100240718	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:100240718T>C	ENST00000450049.2	+	4	306	c.193T>C	c.(193-195)Tat>Cat	p.Y65H		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	65							GTP binding			endometrium(1)|ovary(1)	2						GTTAGATGAGTATGAACTTTC	0.463000													3	47					0	0	0.115264	0	0
HACE1	57531	broad.mit.edu	37	6	105233004	105233004	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr6:105233004C>T	ENST00000262903.4	-	12	1541	c.1265G>A	c.(1264-1266)gGc>gAc	p.G422D	HACE1_ENST00000369125.2_Missense_Mutation_p.G422D	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	422					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTCCCTTGTGCCAGTGGACAG	0.458000													3	46					0	0	0.115264	0	0
SVEP1	79987	broad.mit.edu	37	9	113170974	113170974	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr9:113170974C>T	ENST00000401783.2	-	38	7242	c.6906G>A	c.(6904-6906)tgG>tgA	p.W2302*	SVEP1_ENST00000297826.5_Nonsense_Mutation_p.W228*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.W2279*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2302	Sushi 15.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTGACATGTCCAAGAACTGT	0.443000													17	59					0	0	0.049695	0	0
CIR1	9541	broad.mit.edu	37	2	175252492	175252492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr2:175252492G>A	ENST00000342016.3	-	2	180	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	CIR1_ENST00000362053.5_Nonsense_Mutation_p.Q30*	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	30	Interaction with RBPJ.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						GATATTTTCTGTTCTGCCATC	0.254000													11	42					0	0	0.069234	0	0
CTNNA3	29119	broad.mit.edu	37	10	67829147	67829147	+	Missense_Mutation	SNP	A	A	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr10:67829147A>T	ENST00000433211.1	-	15	2252	c.2078T>A	c.(2077-2079)aTa>aAa	p.I693K	CTNNA3_ENST00000373744.4_Missense_Mutation_p.I693K|CTNNA3_ENST00000373735.1_Missense_Mutation_p.I32K	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	693					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATCATCCCATATCTCAATCTC	0.403000													35	91					0	0	0.059317	0	0
APOL2	23780	broad.mit.edu	37	22	36623928	36623928	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr22:36623928G>A	ENST00000249066.6	-	6	1012	c.536C>T	c.(535-537)gCc>gTc	p.A179V	APOL2_ENST00000451256.2_Missense_Mutation_p.A291V|APOL2_ENST00000358502.5_Missense_Mutation_p.A179V	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	179					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GCGGGCTTGGGCTCGTGCCCG	0.517000													16	37					0	0	0.132662	0	0
RGS12	6002	broad.mit.edu	37	4	3318626	3318626	+	Silent	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr4:3318626G>A	ENST00000336727.3	+	2	1633	c.729G>A	c.(727-729)acG>acA	p.T243T	RGS12_ENST00000543385.1_Silent_p.T243T|RGS12_ENST00000382788.3_Silent_p.T243T|RGS12_ENST00000344733.5_Silent_p.T243T	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	243	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTCCTTCCACGAGCTCCAACC	0.532000													13	46					0	0	0.093190	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110535536	110535536	+	Silent	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr8:110535536C>T	ENST00000378402.5	+	76	12509	c.12405C>T	c.(12403-12405)gtC>gtT	p.V4135V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4135					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATAACCAAGTCAATGGCCTTA	0.398000										HNSCC(38;0.096)			18	48					0	0	0.033300	0	0
OR5D13	390142	broad.mit.edu	37	11	55541352	55541352	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:55541352G>T	ENST00000361760.1	+	1	439	c.439G>T	c.(439-441)Gtg>Ttg	p.V147L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCTCTTCTGGTGGCTGGGTC	0.403000													15	137					1.99824e-07	2.13295e-07	0.033300	1	0
DFNA5	1687	broad.mit.edu	37	7	24756873	24756873	+	Splice_Site	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr7:24756873C>T	ENST00000545231.1	-	7	1355	c.205_splice	c.e7+1	p.E69_splice	DFNA5_ENST00000409970.1_Splice_Site_p.E69_splice|DFNA5_ENST00000419307.1_Splice_Site_p.E69_splice|DFNA5_ENST00000409775.3_Splice_Site_p.E233_splice|DFNA5_ENST00000342947.3_Splice_Site_p.E233_splice|DFNA5_ENST00000559637.1_5'UTR			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	233					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TGGCACTCACCGAACTGGCCG	0.562000													10	35					0	0	0.058154	0	0
FAT1	2195	broad.mit.edu	37	4	187525008	187525008	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr4:187525008C>A	ENST00000441802.2	-	19	10881	c.10672G>T	c.(10672-10674)Gaa>Taa	p.E3558*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3558	Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCTGAGTATTCTTCTCCAGAA	0.473000										HNSCC(5;0.00058)			7	28					8.12818e-05	8.4391e-05	0.029380	1	0
TCP11L1	55346	broad.mit.edu	37	11	33083210	33083210	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:33083210G>A	ENST00000334274.4	+	7	1310	c.910G>A	c.(910-912)Gtc>Atc	p.V304I	TCP11L1_ENST00000531632.2_Missense_Mutation_p.V304I|TCP11L1_ENST00000432887.1_Missense_Mutation_p.V304I|TCP11L1_ENST00000324357.9_Missense_Mutation_p.V83I	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	304										kidney(1)|liver(2)|lung(2)|skin(1)	6						CCCTGTTGCTGTCCAGAATTA	0.547000													5	17					0	0	0.014758	0	0
CPQ	10404	broad.mit.edu	37	8	97892096	97892096	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr8:97892096G>A	ENST00000220763.5	+	4	922	c.712G>A	c.(712-714)Gat>Aat	p.D238N		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	238					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										TACGGTGGAAGATGCAGAAAT	0.463000													5	134					0	0	0.014758	0	0
PRTG	283659	broad.mit.edu	37	15	55931991	55931991	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr15:55931991G>A	ENST00000389286.4	-	13	2220	c.2173C>T	c.(2173-2175)Ccc>Tcc	p.P725S		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	725	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGATGGTGGGGTGGTGGTGGA	0.448000													6	63					0	0	0.038147	0	0
COX5B	1329	broad.mit.edu	37	2	98264531	98264531	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr2:98264531G>A	ENST00000258424.2	+	4	397	c.350G>A	c.(349-351)gGa>gAa	p.G117E	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	117					respiratory electron transport chain|respiratory gaseous exchange	mitochondrial inner membrane	cytochrome-c oxidase activity|metal ion binding			endometrium(1)|lung(1)|urinary_tract(1)	3						CCCCGCTGTGGAGCCCATTAC	0.502000													3	30					0	0	0.115264	0	0
CREBBP	1387	broad.mit.edu	37	16	3820572	3820572	+	Splice_Site	SNP	G	G	C			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr16:3820572G>C	ENST00000262367.5	-	14	3688	c.2880_splice	c.e14+1	p.P960_splice	CREBBP_ENST00000382070.3_Splice_Site_p.P922_splice	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	960					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GAGGCTTACCGGTGTGCCAGG	0.572000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						54	221					0	0	0.139131	0	0
ITPR2	3709	broad.mit.edu	37	12	26493141	26493141	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr12:26493141C>T	ENST00000381340.3	-	56	8394	c.7978G>A	c.(7978-7980)Gtc>Atc	p.V2660I	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2660					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGCTGTTTGACCAGACTCATG	0.547000													18	35					0	0	0.043863	0	0
TCF21	6943	broad.mit.edu	37	6	134210907	134210907	+	Silent	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr6:134210907G>A	ENST00000367882.4	+	1	632	c.372G>A	c.(370-372)gcG>gcA	p.A124A	TCF21_ENST00000237316.3_Silent_p.A124A|RP3-323P13.2_ENST00000607573.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	124	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TCAGGCTGGCGTCCAGCTACA	0.617000													32	94					0	0	0.045705	0	0
KCNIP1	30820	broad.mit.edu	37	5	170148874	170148874	+	Silent	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr5:170148874C>T	ENST00000328939.4	+	4	831	c.294C>T	c.(292-294)ttC>ttT	p.F98F	KCNIP1_ENST00000390656.4_Silent_p.F98F|KCNIP1_ENST00000434108.1_Silent_p.F123F|KCNIP1_ENST00000377360.4_Silent_p.F107F|KCNIP1_ENST00000520740.1_Silent_p.F70F|KCNIP1_ENST00000411494.1_Silent_p.F109F	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	109	EF-hand 2.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.F109F(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAATGCCTTCGACACCACTC	0.547000													51	96					0	0	0.139131	0	0
SVEP1	79987	broad.mit.edu	37	9	113139598	113139598	+	Missense_Mutation	SNP	T	T	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr9:113139598T>A	ENST00000401783.2	-	45	10793	c.10457A>T	c.(10456-10458)aAt>aTt	p.N3486I	SVEP1_ENST00000297826.5_Missense_Mutation_p.N1412I|SVEP1_ENST00000374469.1_Missense_Mutation_p.N3463I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3486					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGAACAAGCATTTGGGCGTTG	0.502000													18	42					0	0	0.055883	0	0
SLC5A4	6527	broad.mit.edu	37	22	32625325	32625325	+	Missense_Mutation	SNP	C	C	T	rs142416109		TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr22:32625325C>T	ENST00000266086.4	-	11	1147	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	379					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CATCAGGCCTCGCAGTCCTGG	0.537000													5	36					0	0	0.014758	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506697	37506697	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr10:37506697G>C	ENST00000374660.1	+	39	3446	c.3347G>C	c.(3346-3348)gGa>gCa	p.G1116A	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G997A|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G997A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1100						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAAGAATTAGGAAGAATCGAA	0.318000													3	40					0	0	0.115264	0	0
NXPE3	91775	broad.mit.edu	37	3	101520161	101520161	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:101520161G>A	ENST00000422132.1	+	2	373	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	NXPE3_ENST00000491511.1_Missense_Mutation_p.R59Q|NXPE3_ENST00000273347.5_Missense_Mutation_p.R59Q|NXPE3_ENST00000477909.1_Missense_Mutation_p.R59Q					neurexophilin and PC-esterase domain family, member 3																		GGAATTAGCCGAAATCCCTAC	0.532000													6	127					0	0	0.021553	0	0
RAD54B	25788	broad.mit.edu	37	8	95419835	95419835	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr8:95419835C>T	ENST00000336148.5	-	5	737	c.613G>A	c.(613-615)Ggc>Agc	p.G205S		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AAACACCTGCCACTGCTGAAG	0.418000								Direct reversal of damage;Homologous recombination					5	44					0	0	0.014758	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27826759	27826759	+	Splice_Site	SNP	G	G	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr12:27826759G>T	ENST00000318304.8	+	16	1713	c.1431_splice	c.e16+1	p.G477_splice	PPFIBP1_ENST00000228425.6_Splice_Site_p.G460_splice|PPFIBP1_ENST00000537927.1_Splice_Site_p.G324_splice|PPFIBP1_ENST00000542629.1_Splice_Site_p.G446_splice	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	477					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					ACATCTGATGGGGTGGGTTCT	0.348000													11	41					5.16669e-11	5.64178e-11	0.080935	1	0
HIP1	3092	broad.mit.edu	37	7	75192259	75192259	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr7:75192259C>T	ENST00000336926.6	-	11	1026	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N	HIP1_ENST00000434438.2_Missense_Mutation_p.D334N	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	334					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCATCCATGTCCATGAGGTCA	0.592000			T	PDGFRB	CMML								4	27					0	0	0.014758	0	0
MYO9A	4649	broad.mit.edu	37	15	72119040	72119040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr15:72119040G>A	ENST00000356056.5	-	42	8000	c.7528C>T	c.(7528-7530)Cag>Tag	p.Q2510*	MYO9A_ENST00000444904.1_Nonsense_Mutation_p.Q2491*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.Q2581*|MYO9A_ENST00000564571.1_3'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2510	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGGTTTTCTGAGGTGAGTTT	0.478000													36	87					0	0	0.086207	0	0
NKAP	79576	broad.mit.edu	37	X	119059238	119059238	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:119059238A>G	ENST00000371410.3	-	9	1359	c.1193T>C	c.(1192-1194)cTg>cCg	p.L398P	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	398	Necessary for interaction with HDAC3 and transcriptional repression.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						AAAACTGGCCAGAATCTTGTT	0.398000													29	82					0	0	0.134883	0	0
RBM44	375316	broad.mit.edu	37	2	238726938	238726938	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr2:238726938G>A	ENST00000316997.4	+	3	1511	c.1379G>A	c.(1378-1380)aGt>aAt	p.S460N	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.S460N	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	459							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GATGCAGCAAGTTGTACAGTC	0.398000													15	28					0	0	0.132662	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	61					0	0	0.038395	0	0
GFRA1	2674	broad.mit.edu	37	10	117884986	117884986	+	Silent	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr10:117884986C>T	ENST00000439649.3	-	5	868	c.501G>A	c.(499-501)tcG>tcA	p.S167S	GFRA1_ENST00000369236.1_Silent_p.S167S|GFRA1_ENST00000355422.6_Silent_p.S172S|GFRA1_ENST00000544592.1_Silent_p.S51S	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	172					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGATGTACGCCGACCTGTACT	0.577000													12	28					0	0	0.093190	0	0
COL16A1	1307	broad.mit.edu	37	1	32148956	32148956	+	Silent	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:32148956G>A	ENST00000373672.3	-	35	2910	c.2394C>T	c.(2392-2394)gcC>gcT	p.A798A	COL16A1_ENST00000271069.6_Silent_p.A797A|COL16A1_ENST00000373668.3_Silent_p.A798A	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	798	Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCAAACCCGGGGCTCCAGGCT	0.617000													45	141					0	0	0.139131	0	0
ACSM2B	348158	broad.mit.edu	37	16	20565237	20565237	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr16:20565237G>A	ENST00000329697.6	-	5	770	c.602C>T	c.(601-603)gCa>gTa	p.A201V	ACSM2B_ENST00000567001.1_Missense_Mutation_p.A201V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A201V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A122V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	201					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGTGGTGGATGCCTCACTGAC	0.493000													14	44					0	0	0.119110	0	0
PSMA1	5682	broad.mit.edu	37	11	14526746	14526746	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:14526746C>T	ENST00000530457.1	-	10	1239	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000396393.1_Missense_Mutation_p.E262K|PSMA1_ENST00000396394.2_Missense_Mutation_p.E262K|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000418988.2_Missense_Mutation_p.E268K			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	262					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						ACTTAATGTTCCATTGGTTCA	0.333000													26	70					0	0	0.116897	0	0
CHD7	55636	broad.mit.edu	37	8	61765577	61765577	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr8:61765577G>A	ENST00000423902.2	+	31	6772	c.6293G>A	c.(6292-6294)cGa>cAa	p.R2098Q	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2098					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CGGCATGACCGAGACTTGCTG	0.542000													13	26					0	0	0.132662	0	0
FGF13	2258	broad.mit.edu	37	X	137715119	137715119	+	Silent	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:137715119G>A	ENST00000315930.6	-	5	1291	c.630C>T	c.(628-630)caC>caT	p.H210H	FGF13_ENST00000305414.4_Silent_p.H157H|FGF13_ENST00000370603.3_Silent_p.H220H|FGF13_ENST00000541469.1_Silent_p.H164H|FGF13_ENST00000441825.2_Silent_p.H191H	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	210					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CCGTGAGATCGTGCAGTGATG	0.483000													7	72					0	0	0.029380	0	0
SNHG14	104472715	broad.mit.edu	37	15	25427409	25427409	+	RNA	SNP	T	T	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr15:25427409T>A	ENST00000424208.1	+	0	206					NR_003305.1																						ATCAGCCAGGTGTCCAGCCCC	0.597000													15	32					0	0	0.119110	0	0
PPFIA4	8497	broad.mit.edu	37	1	203013095	203013095	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:203013095C>T	ENST00000367240.2	+	4	900	c.373C>T	c.(373-375)Cat>Tat	p.H125Y	PPFIA4_ENST00000447715.2_Missense_Mutation_p.H125Y|PPFIA4_ENST00000295706.4_5'UTR			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	128					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GGTGTCCCGCCATGAACGGTC	0.622000													8	31					0	0	0.069234	0	0
OR10S1	219873	broad.mit.edu	37	11	123848324	123848324	+	Silent	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:123848324G>A	ENST00000531945.1	-	1	164	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCTCCAGGAAGAAGTGGCTCA	0.502000													6	77					0	0	0.021553	0	0
USP8	9101	broad.mit.edu	37	15	50763974	50763974	+	Silent	SNP	G	G	C			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr15:50763974G>C	ENST00000433963.1	+	9	1331	c.831G>C	c.(829-831)ctG>ctC	p.L277L	USP8_ENST00000425032.3_Silent_p.L200L|USP8_ENST00000396444.3_Silent_p.L277L|USP8_ENST00000307179.4_Silent_p.L277L	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	277	Rhodanese.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TCCGGAGTCTGAAAGATGCAC	0.393000													4	103					0	0	0.021553	0	0
IFT140	9742	broad.mit.edu	37	16	1614075	1614075	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr16:1614075C>T	ENST00000426508.2	-	17	2353	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	664										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGCACGGCTTCGCATACAAAC	0.577000													5	53					0	0	0.014758	0	0
VHLL	391104	broad.mit.edu	37	1	156268971	156268971	+	Silent	SNP	T	T	G			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:156268971T>G	ENST00000339922.3	-	1	457	c.10A>C	c.(10-12)Aga>Cga	p.R4R		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	4					protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					TTCCCCGCTCTCCAGGGCATT	0.592000													22	79					0	0	0.076483	0	0
SPEF2	79925	broad.mit.edu	37	5	35659168	35659168	+	Silent	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr5:35659168C>T	ENST00000440995.2	+	8	1026	c.1026C>T	c.(1024-1026)tcC>tcT	p.S342S	SPEF2_ENST00000356031.3_Silent_p.S342S|SPEF2_ENST00000509059.1_Silent_p.S342S|SPEF2_ENST00000282469.6_Silent_p.S342S			Q9C093	SPEF2_HUMAN	sperm flagellar 2	342					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCGGCAGTCCCAGCAGGAGC	0.468000													11	18					0	0	0.080935	0	0
PDX1	3651	broad.mit.edu	37	13	28498614	28498614	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr13:28498614G>A	ENST00000381033.4	+	2	747	c.628G>A	c.(628-630)Ggc>Agc	p.G210S		NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	210				GG -> SS (in Ref. 6; AAC05157).	detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CAAGAAGCGCGGCGGCGGGAC	0.657000													7	16					0	0	0.029380	0	0
VPS33B	26276	broad.mit.edu	37	15	91542965	91542965	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr15:91542965G>C	ENST00000333371.3	-	22	2069	c.1716C>G	c.(1714-1716)ttC>ttG	p.F572L	VPS33B_ENST00000535843.1_Missense_Mutation_p.F481L|VPS33B_ENST00000535906.1_Missense_Mutation_p.F545L	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	572					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					AACCACCCAAGAACACCACCA	0.507000													8	216					0	0	0.047766	0	0
CHD8	57680	broad.mit.edu	37	14	21873943	21873943	+	Silent	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr14:21873943C>T	ENST00000399982.2	-	14	3052	c.2988G>A	c.(2986-2988)ccG>ccA	p.P996P	CHD8_ENST00000557364.1_Silent_p.P996P|CHD8_ENST00000430710.3_Silent_p.P717P|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	996	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GAAATTGTGACGGTTCCAAGA	0.418000													8	130					0	0	0.038147	0	0
GRB14	2888	broad.mit.edu	37	2	165365311	165365311	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr2:165365311C>T	ENST00000263915.3	-	7	1406	c.868G>A	c.(868-870)Gtg>Atg	p.V290M	GRB14_ENST00000543549.1_Missense_Mutation_p.V203M	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	290	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GCCAGTGACACATAAATATCA	0.348000													16	63					0	0	0.038395	0	0
MTMR14	64419	broad.mit.edu	37	3	9691417	9691417	+	Silent	SNP	C	C	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:9691417C>A	ENST00000296003.4	+	1	272	c.150C>A	c.(148-150)ggC>ggA	p.G50G	MTMR14_ENST00000353332.5_Silent_p.G50G|MTMR14_ENST00000420925.1_Silent_p.G50G|MTMR14_ENST00000351233.5_Silent_p.G50G	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	50						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GCGGGACCGGCGGCTCTAAGG	0.612000													7	13					5.18039e-06	5.46819e-06	0.038147	1	0
OR4C11	219429	broad.mit.edu	37	11	55371357	55371357	+	Missense_Mutation	SNP	G	G	A	rs141808171	byFrequency	TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:55371357G>A	ENST00000302231.4	-	1	517	c.493C>T	c.(493-495)Cct>Tct	p.P165S		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CCACAGAAAGGCAATCTTAAG	0.443000													16	14					0	0	0.146539	0	0
AIG1	51390	broad.mit.edu	37	6	143605338	143605338	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr6:143605338C>T	ENST00000357847.4	+	4	541	c.491C>T	c.(490-492)aCc>aTc	p.T164I	AIG1_ENST00000275235.4_Missense_Mutation_p.T164I|AIG1_ENST00000344492.5_Missense_Mutation_p.T112I	NM_016108.2	NP_057192.2	Q9NVV5	AIG1_HUMAN	androgen-induced 1	164						integral to membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		GCCATATGTACCTTCTCTGTT	0.433000													4	31					0	0	0.021553	0	0
MGAM2	93432	broad.mit.edu	37	7	141896542	141896542	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr7:141896542G>T	ENST00000477922.3	+	40	4612	c.4558G>T	c.(4558-4560)Gag>Tag	p.E1520*																	endometrium(1)|lung(5)	6						TGCTGAATATGAGATGTGTGT	0.478000													4	15					0.00024832	0.000255031	0.009096	1	0
KCTD1	284252	broad.mit.edu	37	18	24039710	24039710	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr18:24039710C>G	ENST00000417602.1	-	4	2312	c.2313G>C	c.(2311-2313)ttG>ttC	p.L771F	KCTD1_ENST00000580059.1_Missense_Mutation_p.L163F|KCTD1_ENST00000317932.7_Missense_Mutation_p.L163F|KCTD1_ENST00000408011.3_Missense_Mutation_p.L163F|KCTD1_ENST00000579973.1_Missense_Mutation_p.L163F	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	163					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CTTCTTCTATCAAGGATTTGT	0.512000													4	63					0	0	0.014758	0	0
VCP	7415	broad.mit.edu	37	9	35059087	35059087	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr9:35059087C>T	ENST00000358901.6	-	15	3029	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	712					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTCTGCCTCTCTCGTTCTCGC	0.552000													21	54					0	0	0.069288	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr2:178098810C>G	ENST00000397062.3	-	2	789	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			3	46					0	0	0.115264	0	0
EP300	2033	broad.mit.edu	37	22	41564866	41564866	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr22:41564866C>G	ENST00000263253.7	+	25	5386	c.4167C>G	c.(4165-4167)aaC>aaG	p.N1389K		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1389					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTCCACCCAACCAGAGGTATG	0.458000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				5	80					0	0	0.029380	0	0
PRMT7	54496	broad.mit.edu	37	16	68390961	68390961	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr16:68390961G>A	ENST00000339507.5	+	19	2743	c.1913G>A	c.(1912-1914)gGc>gAc	p.G638D	PRMT7_ENST00000449359.3_Missense_Mutation_p.G588D|PRMT7_ENST00000348497.4_Missense_Mutation_p.G490D|PRMT7_ENST00000441236.1_Missense_Mutation_p.G588D			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	638					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CTACAGGGGGGCTGCTGCTGG	0.632000													4	28					0	0	0.009096	0	0
ALG10	84920	broad.mit.edu	37	12	34179307	34179307	+	Silent	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr12:34179307C>T	ENST00000266483.2	+	3	1198	c.879C>T	c.(877-879)taC>taT	p.Y293Y	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	293					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				AACTATTCTACTTTTTTTCAT	0.348000													43	111					0	0	0.117977	0	0
LYZL2	119180	broad.mit.edu	37	10	30915048	30915048	+	Missense_Mutation	SNP	T	T	C	rs143775752	byFrequency	TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr10:30915048T>C	ENST00000375318.2	-	3	478	c.422A>G	c.(421-423)cAc>cGc	p.H141R		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	95					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.H141L(1)		NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				GCAGGCGACGTGGCAGTGGTT	0.557000													11	54					0	0	0.105934	0	0
HKR1	284459	broad.mit.edu	37	19	37854366	37854366	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr19:37854366G>A	ENST00000591471.1	+	9	2491	c.850G>A	c.(850-852)Gag>Aag	p.E284K	HKR1_ENST00000589392.1_Missense_Mutation_p.E539K|HKR1_ENST00000324411.4_Missense_Mutation_p.E557K|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000392153.3_Missense_Mutation_p.E538K|HKR1_ENST00000541583.2_Missense_Mutation_p.E496K|HKR1_ENST00000544914.1_Missense_Mutation_p.E284K			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	557					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATGTGCAGGGAGTGTGGCAG	0.512000													9	25					0	0	0.047766	0	0
SSX5	6758	broad.mit.edu	37	X	48054486	48054486	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:48054486G>A	ENST00000311798.1	-	3	201	c.149C>T	c.(148-150)gCc>gTc	p.A50V	SSX5_ENST00000376923.1_Intron|SSX5_ENST00000347757.1_Intron	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	23	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						AATGCTGCTGGCTGGCTCTCT	0.522000													23	41					0	0	0.069288	0	0
ADCY5	111	broad.mit.edu	37	3	123046600	123046600	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:123046600G>C	ENST00000462833.1	-	7	3024	c.1812C>G	c.(1810-1812)atC>atG	p.I604M	ADCY5_ENST00000309879.5_Missense_Mutation_p.I254M|ADCY5_ENST00000491190.1_Missense_Mutation_p.I237M	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	604					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGGTGATGTGGATGCGTCTAC	0.552000													3	25					0	0	0.115264	0	0
FHOD1	29109	broad.mit.edu	37	16	67263809	67263809	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr16:67263809G>T	ENST00000258201.4	-	21	3546	c.3299C>A	c.(3298-3300)cCc>cAc	p.P1100H	FHOD1_ENST00000567687.1_Missense_Mutation_p.P679H	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1100					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGTATCACTGGGTAAACTGGA	0.587000													20	50					7.45023e-12	8.32672e-12	0.055883	1	0
OR13C9	286362	broad.mit.edu	37	9	107380043	107380043	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr9:107380043G>T	ENST00000259362.1	-	1	442	c.443C>A	c.(442-444)tCc>tAc	p.S148Y		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGCAAACCAGGACCCAACAGC	0.448000													14	103					9.05144e-12	9.99869e-12	0.105934	1	0
RAC1	5879	broad.mit.edu	37	7	6426860	6426860	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr7:6426860G>A	ENST00000348035.4	+	2	266	c.53G>A	c.(52-54)tGc>tAc	p.C18Y	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.C18Y	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	18					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GGTAAAACTTGCCTACTGATC	0.338000													17	41					0	0	0.033300	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130217855	130217855	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:130217855G>A	ENST00000276211.5	+	4	812	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R144Q|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R20Q	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	156	Arg-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						AACGTGGTGCGAAGGGTGTTT	0.617000													27	53					0	0	0.108266	0	0
OR13C4	138804	broad.mit.edu	37	9	107288587	107288587	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr9:107288587C>G	ENST00000277216.3	-	1	903	c.904G>C	c.(904-906)Gat>Cat	p.D302H		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GCTTTTACATCTTTATTTCTC	0.378000													5	70					0	0	0.014758	0	0
MPP4	58538	broad.mit.edu	37	2	202523236	202523236	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr2:202523236C>T	ENST00000409474.3	-	16	1300	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	MPP4_ENST00000359962.5_Missense_Mutation_p.E365K|MPP4_ENST00000409143.1_Missense_Mutation_p.E307K|MPP4_ENST00000428900.2_Missense_Mutation_p.E341K|MPP4_ENST00000315506.7_Missense_Mutation_p.E321K|MPP4_ENST00000396886.3_Missense_Mutation_p.E290K|MPP4_ENST00000447335.2_Missense_Mutation_p.E358K	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	365						cytoplasm	protein binding			kidney(1)|lung(11)	12						ACAAACTCCTCCTTGTCTGAA	0.368000													8	15					0	0	0.047766	0	0
NFRKB	4798	broad.mit.edu	37	11	129746654	129746654	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:129746654C>T	ENST00000446488.3	-	16	1812	c.1709G>A	c.(1708-1710)cGc>cAc	p.R570H	NFRKB_ENST00000524746.1_Missense_Mutation_p.R570H|NFRKB_ENST00000524794.1_Missense_Mutation_p.R595H|NFRKB_ENST00000304521.5_Missense_Mutation_p.R570H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	570					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CCGGTCGGAGCGCAGCAGGGA	0.572000													8	37					0	0	0.058154	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098957	178098957	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr2:178098957G>A	ENST00000397062.3	-	2	642	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	NFE2L2_ENST00000464747.1_Missense_Mutation_p.L14F|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L14F|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L14F|NFE2L2_ENST00000423513.1_Missense_Mutation_p.L14F	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	30					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L30F(5)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CTTACTCCAAGATCTATATCT	0.368000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			7	25					0	0	0.029380	0	0
ANKRD12	23253	broad.mit.edu	37	18	9257777	9257777	+	Silent	SNP	G	G	T	rs74916798		TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr18:9257777G>T	ENST00000383440.2	+	8	4700	c.4443G>T	c.(4441-4443)tcG>tcT	p.S1481S	ANKRD12_ENST00000400020.3_Silent_p.S1481S|ANKRD12_ENST00000262126.3_Silent_p.S1504S	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1504						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATGCTGAATCGATTTCTAAAC	0.413000													11	35					7.03913e-09	7.64248e-09	0.093190	1	0
KCNB2	9312	broad.mit.edu	37	8	73480224	73480224	+	Silent	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr8:73480224C>T	ENST00000523207.1	+	2	843	c.255C>T	c.(253-255)aaC>aaT	p.N85N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	85					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGAACGAGAACGAGTATTTCT	0.512000													17	47					0	0	0.038395	0	0
FKBPL	63943	broad.mit.edu	37	6	32097032	32097032	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr6:32097032G>A	ENST00000375156.3	-	2	796	c.526C>T	c.(526-528)Cag>Tag	p.Q176*		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	176					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										CCAGGCAGCTGAAGCTCTGCT	0.572000													10	149					0	0	0.058154	0	0
FAT4	79633	broad.mit.edu	37	4	126412412	126412412	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr4:126412412G>T	ENST00000394329.3	+	17	14448	c.14435G>T	c.(14434-14436)aGg>aTg	p.R4812M	FAT4_ENST00000335110.5_Missense_Mutation_p.R3053M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4812					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GACCATGGGAGGTCTTCTTCA	0.512000													21	45					2.39187e-15	2.68909e-15	0.049695	1	0
MMGT1	93380	broad.mit.edu	37	X	135047295	135047295	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chrX:135047295T>C	ENST00000305963.2	-	4	671	c.284A>G	c.(283-285)cAt>cGt	p.H95R	MMGT1_ENST00000433339.2_Missense_Mutation_p.H160R	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	95						early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)	3						TCGACCACGATGATTAAATAC	0.353000													42	100					0	0	0.131918	0	0
WDR77	79084	broad.mit.edu	37	1	111985333	111985333	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:111985333C>T	ENST00000235090.5	-	8	948	c.742G>A	c.(742-744)Gtc>Atc	p.V248I	WDR77_ENST00000497278.1_5'UTR|WDR77_ENST00000411751.2_Missense_Mutation_p.V184I	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	248					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGCTCAGGACACAGCTTGTA	0.493000													5	19					0	0	0.014758	0	0
IGSF22	283284	broad.mit.edu	37	11	18735568	18735568	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:18735568G>T	ENST00000513874.1	-	14	2065	c.1926C>A	c.(1924-1926)taC>taA	p.Y642*	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	642	Ig-like 4.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGCCATCCTTGTACCATGTCA	0.602000													24	64					9.86323e-18	1.11548e-17	0.091800	1	0
FAT1	2195	broad.mit.edu	37	4	187539863	187539863	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr4:187539863C>T	ENST00000441802.2	-	10	8086	c.7877G>A	c.(7876-7878)gGc>gAc	p.G2626D		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2626	Cadherin 24.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGCATTGGAGCCCTCATCGGC	0.448000										HNSCC(5;0.00058)			9	27					0	0	0.047766	0	0
CELSR2	1952	broad.mit.edu	37	1	109795883	109795883	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:109795883C>T	ENST00000271332.3	+	1	3243	c.3182C>T	c.(3181-3183)aCt>aTt	p.T1061I		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1061	Cadherin 9.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GATAGTCTGACTTACAGCTTT	0.547000													16	43					0	0	0.132662	0	0
KIF17	57576	broad.mit.edu	37	1	21031194	21031194	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:21031194G>A	ENST00000247986.2	-	5	1179	c.869C>T	c.(868-870)tCg>tTg	p.S290L	KIF17_ENST00000375044.1_Missense_Mutation_p.S190L|KIF17_ENST00000400463.3_Missense_Mutation_p.S290L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	290					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CGTCAGCTTCGAGTCACGGTA	0.622000													16	44					0	0	0.038395	0	0
LAMA2	3908	broad.mit.edu	37	6	129649434	129649434	+	Silent	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr6:129649434G>A	ENST00000421865.2	+	29	4237	c.4188G>A	c.(4186-4188)ccG>ccA	p.P1396P		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1396	Laminin EGF-like 14; second part.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.P1396P(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATGCTTGCCGGGATTTTATC	0.507000													21	73					0	0	0.062417	0	0
GPR137B	7107	broad.mit.edu	37	1	236341831	236341831	+	Silent	SNP	A	A	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:236341831A>T	ENST00000366592.3	+	3	673	c.582A>T	c.(580-582)cgA>cgT	p.R194R	GPR137B_ENST00000366591.4_Intron	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	194						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TCTCTGTGCGAGTGGCCATTA	0.473000													27	54					0	0	0.091800	0	0
DCAF10	79269	broad.mit.edu	37	9	37854962	37854962	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr9:37854962G>A	ENST00000242323.7	+	4	1111	c.1037G>A	c.(1036-1038)aGa>aAa	p.R346K	DCAF10_ENST00000377724.3_Missense_Mutation_p.R346K|DCAF10_ENST00000483167.1_3'UTR|RP11-613M10.9_ENST00000540557.1_Intron			Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	346						CUL4 RING ubiquitin ligase complex				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						AGAGCAAGAAGAACTACTTCA	0.338000													19	60					0	0	0.049695	0	0
ZNF438	220929	broad.mit.edu	37	10	31133973	31133973	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr10:31133973C>G	ENST00000538351.1	-	8	3011	c.2257G>C	c.(2257-2259)Gag>Cag	p.E753Q	ZNF438_ENST00000444692.2_Missense_Mutation_p.E792Q|ZNF438_ENST00000442986.1_Missense_Mutation_p.E802Q|ZNF438_ENST00000375311.1_Missense_Mutation_p.E366Q|ZNF438_ENST00000436087.2_Missense_Mutation_p.E802Q|ZNF438_ENST00000361310.3_Missense_Mutation_p.E802Q|ZNF438_ENST00000331737.6_Missense_Mutation_p.E792Q|ZNF438_ENST00000452305.1_Missense_Mutation_p.E792Q|ZNF438_ENST00000413025.1_Missense_Mutation_p.E802Q	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	802					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GAAGGGTCCTCACAGTTATGC	0.517000													7	184					0	0	0.038147	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455029	84455029	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr13:84455029G>A	ENST00000377084.2	-	1	1499	c.614C>T	c.(613-615)gCg>gTg	p.A205V		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	205						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAGGATCTCCGCAATACCAGG	0.542000													22	39					0	0	0.055883	0	0
ITPK1	3705	broad.mit.edu	37	14	93412800	93412800	+	Missense_Mutation	SNP	G	G	T	rs144084022		TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr14:93412800G>T	ENST00000267615.6	-	10	950	c.777C>A	c.(775-777)gaC>gaA	p.D259E	ITPK1_ENST00000354313.3_Missense_Mutation_p.D259E|ITPK1_ENST00000555495.1_Missense_Mutation_p.D140E|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000556603.2_Missense_Mutation_p.D259E			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	259	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	p.D259E(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GGATGACCTCGTCGCTCGGCC	0.637000													5	41					0.000602214	0.000611876	0.014758	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18574122	18574122	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr9:18574122T>C	ENST00000380548.4	+	4	671	c.332T>C	c.(331-333)gTg>gCg	p.V111A	ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.V111A|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.V111A|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.V111A|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.V111A|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.V111A	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	111						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGGCTTCCTGTGTCTAATGAC	0.498000													41	108					0	0	0.104719	0	0
ITPK1	3705	broad.mit.edu	37	14	93408122	93408122	+	Silent	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr14:93408122G>A	ENST00000267615.6	-	11	1202	c.1029C>T	c.(1027-1029)gcC>gcT	p.A343A	ITPK1_ENST00000354313.3_Intron|ITPK1_ENST00000555495.1_Silent_p.A224A|ITPK1_ENST00000556603.2_Silent_p.A343A			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	343					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CCGCCGGCTCGGCCAGAAGCT	0.711000													4	14					0	0	0.009096	0	0
ITPR2	3709	broad.mit.edu	37	12	26572049	26572049	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr12:26572049T>C	ENST00000381340.3	-	50	7459	c.7043A>G	c.(7042-7044)tAt>tGt	p.Y2348C	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2348					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CGCCACGTGATAGAGAAAGGC	0.453000													19	51					0	0	0.038395	0	0
MED24	9862	broad.mit.edu	37	17	38175892	38175892	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr17:38175892C>T	ENST00000394126.1	-	25	3353	c.2935G>A	c.(2935-2937)Gaa>Aaa	p.E979K	MED24_ENST00000501516.3_Missense_Mutation_p.E973K|MED24_ENST00000394128.2_Missense_Mutation_p.E954K|MED24_ENST00000394127.2_Missense_Mutation_p.E941K|MED24_ENST00000356271.3_Missense_Mutation_p.E941K			O75448	MED24_HUMAN	mediator complex subunit 24	954					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TTCACCAGTTCCGACACCTGC	0.657000													20	42					0	0	0.062417	0	0
ANO5	203859	broad.mit.edu	37	11	22257816	22257816	+	Silent	SNP	C	C	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr11:22257816C>A	ENST00000324559.8	+	8	1073	c.756C>A	c.(754-756)ctC>ctA	p.L252L		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	252						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTATCCACTCCATGATGTAT	0.383000													11	37					5.16669e-11	5.64178e-11	0.080935	1	0
CLOCK	9575	broad.mit.edu	37	4	56315585	56315585	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr4:56315585C>G	ENST00000309964.4	-	16	1677	c.1427G>C	c.(1426-1428)aGa>aCa	p.R476T	CLOCK_ENST00000381322.1_Missense_Mutation_p.R476T|CLOCK_ENST00000513440.1_Missense_Mutation_p.R476T	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	476					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TGATGACCTTCTTTGCACCAT	0.398000													23	48					0	0	0.108266	0	0
SPAG5	10615	broad.mit.edu	37	17	26913009	26913009	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr17:26913009C>T	ENST00000321765.5	-	7	1945	c.1613G>A	c.(1612-1614)cGt>cAt	p.R538H		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	538					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGTTTCTGCACGCCGAGACTA	0.483000													46	143					0	0	0.139131	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000													3	46					0	0	0.115264	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145075708	145075708	+	Missense_Mutation	SNP	C	C	T	rs148346797	byFrequency	TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr1:145075708C>T	ENST00000369359.4	-	1	193	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R52Q|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R52Q|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R52Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCCGGGCGCCGTCTTTCCCG	0.721000			T	PDGFRB	MPD								13	82					0	0	0.105934	0	0
WSCD1	23302	broad.mit.edu	37	17	5998441	5998441	+	Silent	SNP	C	C	T	rs148922288		TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr17:5998441C>T	ENST00000574946.1	+	5	1137	c.747C>T	c.(745-747)cgC>cgT	p.R249R	WSCD1_ENST00000574232.1_Silent_p.R249R|WSCD1_ENST00000573634.1_Silent_p.R133R|WSCD1_ENST00000539421.1_Silent_p.R249R|WSCD1_ENST00000317744.5_Silent_p.R249R			Q658N2	WSCD1_HUMAN	WSC domain containing 1	249	WSC 2.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CCACCTACCGCGGATGCTTCC	0.572000													18	82					0	0	0.038395	0	0
MAP1A	4130	broad.mit.edu	37	15	43815140	43815140	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr15:43815140G>A	ENST00000382031.1	+	5	2214	c.2183G>A	c.(2182-2184)cGt>cAt	p.R728H	MAP1A_ENST00000300231.5_Missense_Mutation_p.R490H|MAP1A_ENST00000399453.1_Missense_Mutation_p.R490H			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	490						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GACAGGAGCCGTGCTATCCGT	0.542000													10	12					0	0	0.069234	0	0
OXTR	5021	broad.mit.edu	37	3	8809643	8809645	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr3:8809643_8809645delGAA	ENST00000316793.3	-	3	853_855	c.229_231delTTC	c.(229-231)del	p.F77del	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	77					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GGTGCTTCATGAAGAAGAAGAGG	0.635													5	8	---	---	---	---					
TIGD4	201798	broad.mit.edu	37	4	153691769	153691770	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr4:153691769_153691770insA	ENST00000304337.2	-	2	1207_1208	c.387_388insT	c.(385-390)agatggfs	p.RW129fs		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	129	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					AGCCAACCATTACTGCACTTAA	0.416													17	47	---	---	---	---					
JMY	133746	broad.mit.edu	37	5	78611869	78611869	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr5:78611869delT	ENST00000396137.4	+	10	3168	c.2706delT	c.(2704-2706)agfs	p.S902fs	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	902					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		AGCGTGGTAGTTTTCATCTGA	0.393													23	81	---	---	---	---					
C6orf62	81688	broad.mit.edu	37	6	24709057	24709059	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr6:24709057_24709059delACA	ENST00000378119.4	-	4	2677_2679	c.510_512delTGT	c.(508-513)gtc>gt	p.VV170del	C6orf62_ENST00000378102.3_In_Frame_Del_p.VV141del|C6orf62_ENST00000540769.1_In_Frame_Del_p.VV112del	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	170						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						AGGATTGTTGACAACGATTCCAG	0.384													19	92	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151859299	151859300	+	Frame_Shift_Ins	INS	-	-	AAGAT			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr7:151859299_151859300insAAGAT	ENST00000355193.2	-	43	11580_11581	c.11362_11363insATCTT	c.(11362-11364)tctfs	p.S3788fs	KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.S3788fs					lysine (K)-specific methyltransferase 2C																		ATTCAAAAGAGAAGATGACTTT	0.436													7	33	---	---	---	---					
KRT5	3852	broad.mit.edu	37	12	52913978	52913979	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr12:52913978_52913979insGG	ENST00000252242.4	-	1	492_493	c.102_103insCC	c.(100-105)tctgtcfs	p.V35fs		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	35	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GACCGGGACACGGAGGTGAAGC	0.663													31	51	---	---	---	---					
SNORA11	677799	broad.mit.edu	37	14	70270922	70270922	+	RNA	DEL	T	T	-	rs11429169		TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr14:70270922delT	ENST00000408133.1	-	0	126																											ATGGATTCTCTTTTTTTTTTT	0.353													3	5	---	---	---	---					
CTCF	10664	broad.mit.edu	37	16	67663349	67663361	+	Frame_Shift_Del	DEL	GAGGGGGAAAATG	GAGGGGGAAAATG	-			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr16:67663349_67663361delGAGGGGGAAAATG	ENST00000264010.4	+	10	2194_2206	c.1750_1762delGAGGGGGAAAATG	c.(1750-1764)gafs	p.EGENG584fs	CTCF_ENST00000401394.1_Frame_Shift_Del_p.EGENG256fs	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	584					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGATGGCGTAGAGGGGGAAAATGGAGGAGAAAC	0.413													12	53	---	---	---	---					
GPS2	2874	broad.mit.edu	37	17	7216126	7216127	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr17:7216126_7216127insGG	ENST00000380728.2	-	11	1232_1233	c.932_933insCC	c.(931-933)ccgfs	p.P311fs	GPS2_ENST00000391950.3_Intron|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000389167.5_Frame_Shift_Ins_p.P311fs			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	311					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				AGGGGAGCCGAGGGCCAGGTTG	0.545													27	137	---	---	---	---					
KRT17P1	147228	broad.mit.edu	37	17	16748911	16748913	+	RNA	DEL	GCT	GCT	-			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr17:16748911_16748913delGCT	ENST00000580363.1	-	0	282_284																				lung(4)	4						CGCCCTCAAAGCTGCTGCTGCCA	0.650													2	4	---	---	---	---					
ZBTB32	27033	broad.mit.edu	37	19	36206144	36206148	+	Frame_Shift_Del	DEL	GATGG	GATGG	-			TCGA-H7-7774-01A-21D-2078-08	TCGA-H7-7774-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5b79a-e3be-4b19-aef6-74247986aaf6	14396841-202f-433a-bdcc-292b733f535f	g.chr19:36206144_36206148delGATGG	ENST00000392197.2	+	3	934_938	c.616_620delGATGG	c.(616-621)gfs	p.DG206fs	ZBTB32_ENST00000262630.3_Frame_Shift_Del_p.DG206fs			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	206					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGGGGAGCAGATGGGAAGCATGGA	0.615													9	41	---	---	---	---					
