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
EFTUD2	9343	broad.mit.edu	37	17	42940269	42940269	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:42940269G>A	ENST00000426333.2	-	16	1716	c.1419C>T	c.(1417-1419)ccC>ccT	p.P473P	EFTUD2_ENST00000592576.1_Silent_p.P463P|EFTUD2_ENST00000402521.3_Silent_p.P438P|EFTUD2_ENST00000591382.1_Silent_p.P473P	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	473						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GGCACATCAGGGGGCCCTGGA	0.567000													34	28					0	0	0.006230	0	0
PLA2G7	7941	broad.mit.edu	37	6	46677110	46677110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:46677110C>T	ENST00000274793.7	-	9	1019	c.823G>A	c.(823-825)Ggt>Agt	p.G275S	PLA2G7_ENST00000537365.1_Missense_Mutation_p.G275S	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	275					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			GTTGCTCCACCAAAAGAATGT	0.303000													29	81					0	0	0.003271	0	0
CCDC33	80125	broad.mit.edu	37	15	74622553	74622553	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:74622553C>T	ENST00000321288.5	+	14	1923	c.1923C>T	c.(1921-1923)gcC>gcT	p.A641A	CCDC33_ENST00000268082.4_Silent_p.A31A|CCDC33_ENST00000398814.3_Silent_p.A438A|CCDC33_ENST00000558821.1_Silent_p.A31A			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	641							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ACCGGCGGGCCATGCAGAAGA	0.597000													19	25					0	0	0.010504	0	0
CPED1	79974	broad.mit.edu	37	7	120935617	120935617	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:120935617C>T	ENST00000310396.5	+	23	3459	c.2992C>T	c.(2992-2994)Cga>Tga	p.R998*		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		AACAAATTTTCGATCGCCATA	0.358000													27	62					0	0	0.012213	0	0
NEFL	4747	broad.mit.edu	37	8	24813375	24813375	+	RNA	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:24813375C>T	ENST00000221169.5	-	0	1249							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AAAGAGATTTCGTCCATCAAG	0.627000													14	28					0	0	0.003163	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842040	8842040	+	Missense_Mutation	SNP	C	C	T	rs140873536		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:8842040C>T	ENST00000324060.2	+	1	725	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATCGCCACCTCCTACGGCCAC	0.592000													35	42					0	0	0.004878	0	0
TTN	7273	broad.mit.edu	37	2	179582272	179582272	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:179582272G>A	ENST00000589042.1	-	87	25553	c.25329C>T	c.(25327-25329)tcC>tcT	p.S8443S	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.S8126S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.S7199S|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8126	Ig-like 67.						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)			GCTTGGCACTGGATGAAGCAG	0.453000													12	12					0	0	0.002450	0	0
NXPE3	91775	broad.mit.edu	37	3	101540295	101540295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:101540295C>T	ENST00000422132.1	+	5	1374	c.1177C>T	c.(1177-1179)Ctt>Ttt	p.L393F	NXPE3_ENST00000491511.1_Missense_Mutation_p.L393F|NXPE3_ENST00000273347.5_Missense_Mutation_p.L393F|NXPE3_ENST00000477909.1_Missense_Mutation_p.L393F					neurexophilin and PC-esterase domain family, member 3																		GGGTCCCTTCCTTGCAGTGGA	0.453000													26	40					0	0	0.007291	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724953	7724953	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:7724953C>T	ENST00000303635.7	+	9	2553	c.2346C>T	c.(2344-2346)tcC>tcT	p.S782S	CAMTA1_ENST00000439411.2_Silent_p.S782S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	782					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.S782S(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACTTCATCTCCGTGGAGGGGG	0.637000			T	WWTR1	epitheliod hemangioendothelioma								132	262					0	0	0.014410	0	0
MICALL2	79778	broad.mit.edu	37	7	1478590	1478590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:1478590G>A	ENST00000297508.7	-	10	2183	c.2008C>T	c.(2008-2010)Cct>Tct	p.P670S	MICALL2_ENST00000405088.4_Missense_Mutation_p.P458S|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	670						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AGGCTGGCAGGGACGGCCAGT	0.687000													19	38					0	0	0.003330	0	0
CR2	1380	broad.mit.edu	37	1	207651280	207651280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:207651280G>A	ENST00000367057.3	+	16	3142	c.2953G>A	c.(2953-2955)Gaa>Aaa	p.E985K	CR2_ENST00000458541.2_Missense_Mutation_p.E899K|CR2_ENST00000367058.3_Missense_Mutation_p.E926K|CR2_ENST00000367059.3_Missense_Mutation_p.E864K	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	926					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAAAGGGCTGGAACCAAGGAA	0.438000													7	28					0	0	0.006214	0	0
LILRA6	79168	broad.mit.edu	37	19	54744939	54744939	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:54744939C>T	ENST00000440558.2	-	5	771	c.723G>A	c.(721-723)ctG>ctA	p.L241L	LILRA6_ENST00000419410.2_Silent_p.L241L|LILRA6_ENST00000245621.5_Silent_p.L241L|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000396365.2_Silent_p.L241L|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACTGGAGGGTCAGGCTCTGCC	0.642000													29	54					0	0	0.006320	0	0
PTPRD	5789	broad.mit.edu	37	9	8486278	8486278	+	Missense_Mutation	SNP	C	C	T	rs143787300		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:8486278C>T	ENST00000381196.4	-	25	3082	c.2539G>A	c.(2539-2541)Gtg>Atg	p.V847M	PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.V834M|PTPRD_ENST00000356435.5_Missense_Mutation_p.V847M|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.V847M|PTPRD_ENST00000358503.5_Missense_Mutation_p.V825M|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397611.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	847	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATGTGTCCACCGGAGGGTGC	0.478000										TSP Lung(15;0.13)			53	21					0	0	0.014410	0	0
VWF	7450	broad.mit.edu	37	12	6230460	6230460	+	Nonsense_Mutation	SNP	G	G	A	rs61753984		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:6230460G>A	ENST00000261405.5	-	3	354	c.100C>T	c.(100-102)Cga>Tga	p.R34*	VWF_ENST00000572068.1_Nonsense_Mutation_p.R71*	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	34	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.R34*(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGCTGCATCGGGCCGTGGAT	0.587000													8	29					0	0	0.003080	0	0
TRPS1	7227	broad.mit.edu	37	8	116617158	116617158	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:116617158G>T	ENST00000395715.3	-	4	1615	c.1038C>A	c.(1036-1038)ttC>ttA	p.F346L	TRPS1_ENST00000220888.5_Missense_Mutation_p.F333L|TRPS1_ENST00000519076.1_Missense_Mutation_p.F287L|TRPS1_ENST00000519674.1_Missense_Mutation_p.F333L|TRPS1_ENST00000520276.1_Missense_Mutation_p.F337L	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	333					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATTTACAGCGGAAATACTTGG	0.408000									Langer-Giedion syndrome				39	54					3.76114e-14	3.87956e-14	0.004289	1	0
BANF2	140836	broad.mit.edu	37	20	17705686	17705686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:17705686C>T	ENST00000246090.5	+	3	278	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	BANF2_ENST00000377805.3_Missense_Mutation_p.P6S|BANF2_ENST00000545418.2_Missense_Mutation_p.P13S	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	6						cytoplasm|nucleus	DNA binding			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						CAACATGTCTCCCAGGCTGAG	0.552000													15	112					0	0	0.004990	0	0
ESPN	83715	broad.mit.edu	37	1	6488420	6488420	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:6488420C>T	ENST00000377828.1	+	2	597	c.429C>T	c.(427-429)caC>caT	p.H143H		NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	143					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGCCTATCCACTACGCTGCCG	0.652000													48	63					0	0	0.014410	0	0
MYCBP2	23077	broad.mit.edu	37	13	77700588	77700588	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:77700588G>A	ENST00000407578.2	-	53	8015	c.7749C>T	c.(7747-7749)ttC>ttT	p.F2583F	MYCBP2_ENST00000360084.5_Silent_p.F8F|MYCBP2_ENST00000357337.6_Silent_p.F2545F|MYCBP2_ENST00000544440.2_Silent_p.F2545F|MYCBP2_ENST00000482517.1_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2545					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)		CTCCTCGCAAGAATGGCATAT	0.438000													30	38					0	0	0.010818	0	0
OR13C3	138803	broad.mit.edu	37	9	107298775	107298775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:107298775G>A	ENST00000374781.2	-	1	362	c.320C>T	c.(319-321)tCt>tTt	p.S107F		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TGAGGGAACAGAGGAGGATGT	0.423000													36	28					0	0	0.013726	0	0
IDO2	169355	broad.mit.edu	37	8	39872860	39872860	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:39872860C>T	ENST00000502986.2	+	11	1244	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Silent_p.I321I	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	321					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GGGACTACATCCTGTCATCTG	0.507000													14	57					0	0	0.001855	0	0
NRG3	10718	broad.mit.edu	37	10	84711264	84711264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:84711264C>T	ENST00000372142.2	+	6	705	c.431C>T	c.(430-432)tCa>tTa	p.S144L	NRG3_ENST00000545131.1_Missense_Mutation_p.S15L|NRG3_ENST00000372141.2_Missense_Mutation_p.S365L|NRG3_ENST00000556918.1_Missense_Mutation_p.S195L|NRG3_ENST00000404576.2_Missense_Mutation_p.S169L|NRG3_ENST00000404547.1_Missense_Mutation_p.S365L|NRG3_ENST00000537893.1_Missense_Mutation_p.S15L	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	365	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CTGTCAATTTCATGTATCATC	0.378000													22	21					0	0	0.003330	0	0
ANO3	63982	broad.mit.edu	37	11	26463504	26463504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:26463504C>T	ENST00000256737.3	+	2	938	c.86C>T	c.(85-87)tCg>tTg	p.S29L	ANO3_ENST00000531646.1_Missense_Mutation_p.S29L|ANO3_ENST00000525139.1_Missense_Mutation_p.S13L|ANO3_ENST00000537978.1_Missense_Mutation_p.S13L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	29						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AAAGAAACTTCGTTAAAACCG	0.413000													49	100					0	0	0.014410	0	0
TGFBR3	7049	broad.mit.edu	37	1	92182152	92182152	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:92182152G>A	ENST00000212355.4	-	11	2145	c.1680C>T	c.(1678-1680)tcC>tcT	p.S560S	TGFBR3_ENST00000370399.2_Silent_p.S559S|TGFBR3_ENST00000525962.1_Silent_p.S560S	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	560	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GGGTGAACAGGGAAGCATCTC	0.463000													127	335					0	0	0.014410	0	0
P2RY13	53829	broad.mit.edu	37	3	151046683	151046683	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:151046683A>C	ENST00000325602.5	-	2	180	c.161T>G	c.(160-162)gTt>gGt	p.V54G	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	54						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GGTCAAGAAAACCACTGTGTA	0.507000													56	115					0	0	0.014410	0	0
DNAH2	146754	broad.mit.edu	37	17	7683947	7683947	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:7683947G>A	ENST00000572933.1	+	38	7310		c.e38-1		DNAH2_ENST00000389173.2_Splice_Site			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGTTCCCCAGATTCTGGCCA	0.542000													80	50					0	0	0.014410	0	0
TRBV28	28559	broad.mit.edu	37	7	142428803	142428803	+	RNA	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:142428803C>T	ENST00000390400.2	+	0	183																											GTTCTGGTATCGACAAGACCC	0.423000													10	31					0	0	0.010729	0	0
TLR4	7099	broad.mit.edu	37	9	120476865	120476865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:120476865C>T	ENST00000355622.6	+	3	2560	c.2459C>T	c.(2458-2460)tCa>tTa	p.S820L	TLR4_ENST00000394487.4_Missense_Mutation_p.S780L|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	820					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GATGGTAAATCATGGAATCCA	0.502000													75	41					0	0	0.014410	0	0
SERPINB3	6317	broad.mit.edu	37	18	61326644	61326644	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr18:61326644G>A	ENST00000283752.5	-	4	483	c.340C>T	c.(340-342)Cta>Tta	p.L114L	SERPINB3_ENST00000332821.8_Silent_p.L114L|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	114					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGTAAAAATAGATACGTTTTT	0.423000													35	16					0	0	0.006999	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971187	21971187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:21971187G>A	ENST00000579755.1	-	2	506	c.214C>T	c.(214-216)Ccg>Tcg	p.P72S	CDKN2A_ENST00000579122.1_Silent_p.A57A|CDKN2A_ENST00000578845.2_Silent_p.A6A|CDKN2A_ENST00000498628.2_Silent_p.A6A|CDKN2A_ENST00000497750.1_Silent_p.A6A|CDKN2A_ENST00000446177.1_Silent_p.A57A|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72S|CDKN2A_ENST00000494262.1_Silent_p.A6A|CDKN2A_ENST00000304494.5_Silent_p.A57A|CDKN2A_ENST00000479692.2_Silent_p.A6A|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113S|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Silent_p.A57A			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	48			C -> G (in an esophagus tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(45)|p.R58*(6)|p.M53_R58del(3)|p.M54fs*61(2)|p.R58fs*59(1)|p.R58fs*89(1)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.A57A(1)|p.P113L(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGCCACTCGGGCGCTGCCCA	0.682000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			50	28					0	0	0.014410	0	0
C8orf22	492307	broad.mit.edu	37	8	49985398	49985398	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:49985398C>T	ENST00000303202.8	+	2	182	c.9C>T	c.(7-9)tcC>tcT	p.S3S	C8orf22_ENST00000399653.4_Silent_p.S3S|C8orf22_ENST00000517663.1_Silent_p.S3S|C8orf22_ENST00000522267.1_Silent_p.S3S	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	3										large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CCATGGCATCCGTACCTTCCA	0.418000													68	99					0	0	0.014410	0	0
OLFML3	56944	broad.mit.edu	37	1	114524200	114524200	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:114524200C>T	ENST00000369551.1	+	4	1258	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	OLFML3_ENST00000320334.4_Missense_Mutation_p.R344C|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Missense_Mutation_p.R324C			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	344	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTCGGGCCCGCATCCAGTG	0.597000													41	79					0	0	0.014410	0	0
MC3R	4159	broad.mit.edu	37	20	54824490	54824490	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:54824490C>T	ENST00000243911.2	+	1	703	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	234					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCATGTTCTTCGCCATGATGC	0.587000													105	51					0	0	0.014410	0	0
NRXN3	9369	broad.mit.edu	37	14	79181308	79181308	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr14:79181308C>T	ENST00000554719.1	+	5	1242	c.751C>T	c.(751-753)Cga>Tga	p.R251*	NRXN3_ENST00000335750.5_Nonsense_Mutation_p.R251*	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CAAGAACATTCGACAGCTGGC	0.547000													21	10					0	0	0.012319	0	0
AKR1D1	6718	broad.mit.edu	37	7	137792208	137792208	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:137792208C>T	ENST00000242375.3	+	7	779	c.737C>T	c.(736-738)tCa>tTa	p.S246L	AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Missense_Mutation_p.S246L|AKR1D1_ENST00000411726.2_Missense_Mutation_p.S205L	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	246					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						CTTCTAAACTCATTGGGGAAA	0.368000													26	51					0	0	0.005443	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58285260	58285260	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:58285260G>A	ENST00000249750.4	-	6	1334	c.567C>T	c.(565-567)ccC>ccT	p.P189P	ALDH1A2_ENST00000347587.3_Silent_p.P189P|ALDH1A2_ENST00000537372.1_Silent_p.P168P|ALDH1A2_ENST00000559517.1_Silent_p.P93P|ALDH1A2_ENST00000558231.1_Silent_p.P160P	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	189					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ACATCAGCAGGGGGAAGTTCC	0.413000													31	22					0	0	0.003271	0	0
SLC5A5	6528	broad.mit.edu	37	19	17994532	17994532	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:17994532G>A	ENST00000222248.3	+	11	1632	c.1285G>A	c.(1285-1287)Gga>Aga	p.G429R		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	429					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCCCCTGCTGGGAGCCTTCAT	0.711000													20	81					0	0	0.014323	0	0
FOXA3	3171	broad.mit.edu	37	19	46376133	46376133	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:46376133G>A	ENST00000302177.2	+	2	1067	c.870G>A	c.(868-870)ggG>ggA	p.G290G		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	290					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		AGCTCCCAGGGGAGCTGAAGC	0.607000													23	31					0	0	0.002780	0	0
ZNF600	162966	broad.mit.edu	37	19	53270003	53270003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:53270003C>T	ENST00000338230.3	-	3	1273	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AAAGCTGTGTCACAAACCTTA	0.388000													14	48					0	0	0.001855	0	0
PLCL1	5334	broad.mit.edu	37	2	198949006	198949006	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:198949006G>A	ENST00000428675.1	+	2	1163	c.765G>A	c.(763-765)ggG>ggA	p.G255G	PLCL1_ENST00000437704.2_Silent_p.G157G	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	255					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATGTTGATGGGAATGGGATTA	0.413000													19	71					0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179458328	179458328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:179458328C>T	ENST00000589042.1	-	298	58923	c.58699G>A	c.(58699-58701)Gtg>Atg	p.V19567M	TTN_ENST00000359218.5_Missense_Mutation_p.V10627M|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V17926M|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V10502M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V16999M|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10694M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17926	Ig-like 109.						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)			GAATCAGACACCAGAGGATCA	0.299000													14	24					0	0	0.003163	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650952	94650952	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:94650952C>T	ENST00000260526.6	-	17	2048	c.1866G>A	c.(1864-1866)acG>acA	p.T622T	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	622					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	p.T622T(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CCCTACATTTCGTGGGGGATC	0.398000													35	71					0	0	0.004878	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589324	140589324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:140589324C>T	ENST00000239450.2	+	1	1034	c.845C>T	c.(844-846)tCc>tTc	p.S282F	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		282	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S282F(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATACCTTTTCCCATGCCTCA	0.413000													69	72					0	0	0.014410	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	16					0	0	0.009096	0	0
JPH3	57338	broad.mit.edu	37	16	87678069	87678069	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:87678069C>T	ENST00000284262.2	+	2	830	c.588C>T	c.(586-588)ttC>ttT	p.F196F		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	196					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GCGGGGGCTTCGTGCTCGTGG	0.682000													41	27					0	0	0.009718	0	0
COL5A1	1289	broad.mit.edu	37	9	137642408	137642408	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:137642408C>T	ENST00000371817.3	+	12	1929	c.1515C>T	c.(1513-1515)ggC>ggT	p.G505G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	505	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GACGCCCAGGCCTTCCTGGGG	0.662000													42	26					0	0	0.010771	0	0
KAT2B	8850	broad.mit.edu	37	3	20187898	20187898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:20187898C>T	ENST00000263754.4	+	14	2550	c.2095C>T	c.(2095-2097)Cct>Tct	p.P699S		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	699					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TCGACAGATTCCTATAGAAAG	0.328000													59	71					0	0	0.014410	0	0
ITGA2B	3674	broad.mit.edu	37	17	42457168	42457168	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:42457168G>A	ENST00000262407.5	-	18	1798	c.1767C>T	c.(1765-1767)ttC>ttT	p.F589F	ITGA2B_ENST00000353281.4_Silent_p.F589F	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	589					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GCTTGTCCCGGAAGTCTGCCT	0.607000													50	30					0	0	0.014410	0	0
OR2A12	346525	broad.mit.edu	37	7	143792418	143792418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:143792418C>T	ENST00000408949.2	+	1	278	c.218C>T	c.(217-219)gCc>gTc	p.A73V		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					ATGTCCTATGCCTCGAGTACT	0.453000													4	92					0	0	0.009096	0	0
OR4A16	81327	broad.mit.edu	37	11	55110948	55110948	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:55110948C>T	ENST00000314721.2	+	1	322	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCGCTATTTCCTTGTCAGCT	0.438000													80	119					0	0	0.014410	0	0
KIF1A	547	broad.mit.edu	37	2	241713623	241713623	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:241713623G>A	ENST00000498729.2	-	12	1260	c.1014C>T	c.(1012-1014)taC>taT	p.Y338Y	KIF1A_ENST00000320389.7_Silent_p.Y338Y	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	338	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGGTCTCATCGTAGTTGATGT	0.572000													12	30					0	0	0.002450	0	0
BNC1	646	broad.mit.edu	37	15	83932004	83932004	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:83932004G>A	ENST00000345382.2	-	4	2084	c.1999C>T	c.(1999-2001)Cct>Tct	p.P667S	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.P660S	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	667					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TCAGAAAAAGGAACTTGGGGT	0.532000													41	44					0	0	0.006999	0	0
C10orf128	170371	broad.mit.edu	37	10	50396379	50396379	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:50396379C>T	ENST00000374148.1	-	1	57	c.3G>A	c.(1-3)atG>atA	p.M1I	C10orf128_ENST00000374153.2_Start_Codon_SNP_p.M1I|C10orf128_ENST00000474718.1_Start_Codon_SNP_p.M1I|C10orf128_ENST00000470884.1_5'UTR|C10orf128_ENST00000374151.3_Start_Codon_SNP_p.M1I			Q5T292	CJ128_HUMAN	chromosome 10 open reading frame 128	1						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3						CCCCCAAGTTCATGCTGGCGC	0.647000													20	15					0	0	0.002780	0	0
FLNC	2318	broad.mit.edu	37	7	128478355	128478355	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:128478355G>C	ENST00000325888.8	+	7	1343	c.1082G>C	c.(1081-1083)cGc>cCc	p.R361P	FLNC_ENST00000346177.6_Missense_Mutation_p.R361P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	361					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AACATTGAACGCAGTCCCTTT	0.597000													57	101					0	0	0.014410	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			154	108					0	0	0.014410	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001263	13001263	+	Silent	SNP	C	C	T	rs150586267		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:13001263C>T	ENST00000376189.1	-	3	519	c.420G>A	c.(418-420)agG>agA	p.R140R	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Silent_p.R140R	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	140										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCTCTCATCCTTGGACAGT	0.507000													123	1062					0	0	0.014410	0	0
PHF6	84295	broad.mit.edu	37	X	133547593	133547593	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:133547593A>G	ENST00000332070.3	+	6	693	c.491A>G	c.(490-492)aAa>aGa	p.K164R	PHF6_ENST00000370803.3_Missense_Mutation_p.K164R|PHF6_ENST00000370800.4_Missense_Mutation_p.K165R|PHF6_ENST00000370799.1_Missense_Mutation_p.K165R|PHF6_ENST00000416404.2_Missense_Mutation_p.K130R|PHF6_ENST00000394292.1_Missense_Mutation_p.K165R	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					AAAAGTCGCAAAGGAAGGCCA	0.358000			"""F, N, Splice, Mis"""		ETP ALL								61	13					0	0	0.014410	0	0
VGLL1	51442	broad.mit.edu	37	X	135618248	135618248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:135618248G>A	ENST00000370634.3	+	2	239	c.69G>A	c.(67-69)tgG>tgA	p.W23*		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					AGACGGAATGGAATTCCCGGT	0.502000													46	19					0	0	0.013114	0	0
AHRR	57491	broad.mit.edu	37	5	434306	434306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:434306C>T	ENST00000316418.5	+	12	1561	c.1517C>T	c.(1516-1518)cCc>cTc	p.P506L	AHRR_ENST00000512529.1_Missense_Mutation_p.P334L|AHRR_ENST00000506456.1_Missense_Mutation_p.P344L|AHRR_ENST00000505113.1_Missense_Mutation_p.P488L	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TGCCACTTTCCCCAGAGGAGC	0.652000													12	10					0	0	0.013537	0	0
CNTLN	54875	broad.mit.edu	37	9	17457623	17457623	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:17457623C>T	ENST00000380647.3	+	19	3300	c.3216C>T	c.(3214-3216)tcC>tcT	p.S1072S	CNTLN_ENST00000262360.5_Silent_p.S1072S|CNTLN_ENST00000425824.1_Silent_p.S1072S			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1072						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGAAAATTCCCAGGTAACAT	0.363000													25	28					0	0	0.007291	0	0
ADORA3	140	broad.mit.edu	37	1	112043112	112043112	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:112043112G>A	ENST00000241356.4	-	2	822	c.417C>T	c.(415-417)ttC>ttT	p.F139F	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	139					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	ATCCCACCAGGAATGACACCA	0.498000													44	136					0	0	0.010771	0	0
DCHS2	54798	broad.mit.edu	37	4	155253927	155253927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:155253927G>A	ENST00000357232.3	-	9	1935	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	DCHS2_ENST00000339452.1_Missense_Mutation_p.R1145W	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	646	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R646W(1)|p.R1145W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AACTGTCGCCGCAAATAAATC	0.502000													4	102					0	0	0.000602	0	0
NOC3L	64318	broad.mit.edu	37	10	96099536	96099536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:96099536G>A	ENST00000371361.3	-	17	2022	c.1922C>T	c.(1921-1923)tCa>tTa	p.S641L	NOC3L_ENST00000543788.1_Missense_Mutation_p.S379L|NOC3L_ENST00000371350.1_Missense_Mutation_p.S641L	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	641						nuclear speck|nucleolus	binding	p.S641*(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				GCCAATACTTGAATTTGGAAG	0.368000													13	7					0	0	0.013537	0	0
PIK3R6	146850	broad.mit.edu	37	17	8738700	8738700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:8738700C>T	ENST00000311434.9	-	8	774	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	179					platelet activation	cytosol											TGCGCCTGGGCCGCCTCGATC	0.652000													17	9					0	0	0.006122	0	0
ABCB11	8647	broad.mit.edu	37	2	169781241	169781241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:169781241G>A	ENST00000263817.6	-	27	3815	c.3691C>T	c.(3691-3693)Cgg>Tgg	p.R1231W		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1231	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ACAATGGCCCGAGCAATAGCA	0.398000													25	59					0	0	0.003330	0	0
ALPK3	57538	broad.mit.edu	37	15	85411399	85411399	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:85411399C>T	ENST00000258888.5	+	14	5603	c.5436C>T	c.(5434-5436)tcC>tcT	p.S1812S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1812	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCGCCTCCTCCCACCAGTGCA	0.627000													83	99					0	0	0.014410	0	0
KLHL8	57563	broad.mit.edu	37	4	88084715	88084715	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:88084715G>A	ENST00000273963.5	-	10	2160	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	KLHL8_ENST00000545252.1_Nonsense_Mutation_p.R256*|KLHL8_ENST00000512111.1_Nonsense_Mutation_p.R607*|KLHL8_ENST00000498875.2_Nonsense_Mutation_p.R531*|KLHL8_ENST00000425278.2_Nonsense_Mutation_p.R424*	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	607								p.R607*(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CCTACATCTCGAATTTGGCTA	0.428000													53	78					0	0	0.014410	0	0
USP42	84132	broad.mit.edu	37	7	6189856	6189856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:6189856G>A	ENST00000306177.5	+	13	2187	c.2029G>A	c.(2029-2031)Gat>Aat	p.D677N		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	677					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CCTAGCGCCTGATGGTGCCAG	0.562000													15	26					0	0	0.006122	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232649950	232649950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:232649950G>A	ENST00000366630.1	-	2	1494	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S379F			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	379					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCCTAAAGGGGACTCACAGTT	0.522000													28	95					0	0	0.005443	0	0
PCLO	27445	broad.mit.edu	37	7	82582113	82582113	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:82582113C>T	ENST00000423517.2	-	5	8493	c.8156G>A	c.(8155-8157)gGa>gAa	p.G2719E	PCLO_ENST00000333891.8_Missense_Mutation_p.G2719E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2650					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGCAATTTTCCATCTTCTTT	0.373000													14	29					0	0	0.002450	0	0
FOCAD	54914	broad.mit.edu	37	9	20907175	20907175	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:20907175C>T	ENST00000380249.1	+	24	3016	c.2652C>T	c.(2650-2652)caC>caT	p.H884H	FOCAD_ENST00000605086.1_Silent_p.H320H|FOCAD_ENST00000338382.6_Silent_p.H884H	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	884						integral to membrane	binding										caGAGTGGCACCGTGCAATTT	0.383000													82	33					0	0	0.014410	0	0
UNC13C	440279	broad.mit.edu	37	15	54707184	54707184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:54707184C>T	ENST00000545554.1	+	18	4852	c.4852C>T	c.(4852-4854)Cct>Tct	p.P1618S	UNC13C_ENST00000537900.1_Missense_Mutation_p.P1616S|UNC13C_ENST00000260323.11_Missense_Mutation_p.P1618S			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1618					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTTAGGTTTCCTCAAGAGCT	0.303000													14	28					0	0	0.004007	0	0
ATP12A	479	broad.mit.edu	37	13	25274961	25274961	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:25274961G>A	ENST00000218548.6	+	13	2133	c.1800G>A	c.(1798-1800)ccG>ccA	p.P600P	ATP12A_ENST00000381946.3_Silent_p.P594P	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	594					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TGAACTTTCCGACCTCCAACC	0.493000													30	54					0	0	0.008361	0	0
C22orf29	79680	broad.mit.edu	37	22	19839544	19839544	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:19839544G>A	ENST00000405640.1	-	2	909	c.241C>T	c.(241-243)Ccc>Tcc	p.P81S	C22orf29_ENST00000407472.1_Missense_Mutation_p.P81S|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.P81S|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000484072.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	81										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CCAGCTAGGGGACCCCTTTCT	0.627000													47	97					0	0	0.014410	0	0
DNPH1	10591	broad.mit.edu	37	6	43193590	43193590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:43193590C>T	ENST00000230431.6	-	4	433	c.406G>A	c.(406-408)Gat>Aat	p.D136N	DNPH1_ENST00000393987.2_3'UTR	NM_006443.2	NP_006434.1			2'-deoxynucleoside 5'-phosphate N-hydrolase 1																		CGAGAGCCATCTGCTGCTCCC	0.617000													26	50					0	0	0.006320	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47548008	47548008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:47548008C>T	ENST00000334194.3	+	4	370	c.367C>T	c.(367-369)Cga>Tga	p.R123*		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	123						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TTCATAAGGTCGAGGACTTGT	0.448000													6	60					0	0	0.001984	0	0
VWF	7450	broad.mit.edu	37	12	6230461	6230461	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:6230461G>A	ENST00000261405.5	-	3	353	c.99C>T	c.(97-99)gcC>gcT	p.A33A	VWF_ENST00000572068.1_Silent_p.A70A	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	33					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGCTGCATCGGGCCGTGGATG	0.587000													8	29					0	0	0.003080	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348500	140348500	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:140348500T>A	ENST00000289269.5	+	1	2681	c.2149T>A	c.(2149-2151)Ttt>Att	p.F717I	PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		717					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGTGTCTTTTATATTTCT	0.428000													16	59					0	0	0.003163	0	0
ASNA1	439	broad.mit.edu	37	19	12856465	12856465	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:12856465G>A	ENST00000591090.1	+	5	603	c.501G>A	c.(499-501)acG>acA	p.T167T	ASNA1_ENST00000357332.3_Silent_p.T167T			O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	167					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	TATTTGACACGGCACCCACGG	0.627000													17	66					0	0	0.006122	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539545	133539545	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:133539545C>T	ENST00000409261.1	-	14	5212	c.4839G>A	c.(4837-4839)acG>acA	p.T1613T	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.T1613T|NCKAP5_ENST00000473859.1_5'UTR	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1613							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGGTGTCTTTCGTTGAACATG	0.438000													48	56					0	0	0.014410	0	0
OR9I1	219954	broad.mit.edu	37	11	57886568	57886568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:57886568C>T	ENST00000302610.1	-	1	348	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				TAGGCCATCACTGCCAGCAGA	0.547000													22	39					0	0	0.010504	0	0
LEFTY1	10637	broad.mit.edu	37	1	226075178	226075178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:226075178G>A	ENST00000272134.5	-	3	737	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.P328L	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	220					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					GAGGCAAAGCGGACCAGCTTG	0.701000													15	19					0	0	0.007413	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129663458	129663458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:129663458G>A	ENST00000358303.4	-	8	1210	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	ZC3HC1_ENST00000360708.5_Intron|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.R333C|RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.R355C|RP11-306G20.1_ENST00000480018.1_RNA	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	376					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GTCACTGGGCGAGTTCTGGTG	0.617000													52	98					0	0	0.014410	0	0
DNAH8	1769	broad.mit.edu	37	6	38890939	38890939	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:38890939G>A	ENST00000359357.3	+	70	10371	c.10117G>A	c.(10117-10119)Gaa>Aaa	p.E3373K	RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.E3590K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E3337K					dynein, axonemal, heavy chain 8									p.E3373K(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCAAAGTAAAGAATTCAAAGC	0.438000													17	30					0	0	0.007413	0	0
OR10G4	390264	broad.mit.edu	37	11	123887023	123887023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:123887023C>T	ENST00000320891.4	+	1	742	c.742C>T	c.(742-744)Ctt>Ttt	p.L248F		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TATTGTGGTCCTTTGCTTCTT	0.542000													22	37					0	0	0.012319	0	0
NLRP8	126205	broad.mit.edu	37	19	56467104	56467104	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:56467104C>T	ENST00000291971.3	+	3	1751	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F	NLRP8_ENST00000590542.1_Silent_p.F560F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	560						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTTTCTTATTCGGTTTTCTGA	0.463000													23	41					0	0	0.014323	0	0
ZNF155	7711	broad.mit.edu	37	19	44501512	44501512	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:44501512C>T	ENST00000270014.2	+	5	1631	c.1503C>T	c.(1501-1503)gaC>gaT	p.D501D	RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000590615.1_Silent_p.D501D|RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000407951.2_Silent_p.D512D	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN	zinc finger protein 155	501						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				ACCGTAAAGACCAGCCGAGAG	0.428000													41	56					0	0	0.007835	0	0
EVPL	2125	broad.mit.edu	37	17	74003914	74003914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:74003914G>A	ENST00000301607.3	-	22	5625	c.5372C>T	c.(5371-5373)tCc>tTc	p.S1791F	EVPL_ENST00000586740.1_Missense_Mutation_p.S1813F	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1791	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGAGCCGATGGAGAGTGAGGA	0.597000													35	43					0	0	0.003271	0	0
ARHGEF35	445328	broad.mit.edu	37	7	143884382	143884382	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:143884382C>T	ENST00000378115.2	-	2	1224	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	ARHGEF35_ENST00000543357.1_Silent_p.K365K	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	365	Glu-rich.									kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CCCCTTTCTCCTTTATACCAT	0.547000													33	11					0	0	0.006230	0	0
KCNU1	157855	broad.mit.edu	37	8	36664931	36664931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:36664931C>T	ENST00000399881.3	+	6	656	c.619C>T	c.(619-621)Cct>Tct	p.P207S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	207						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GCTAGAACTCCCTCAAATCTT	0.433000													48	69					0	0	0.014410	0	0
HCN4	10021	broad.mit.edu	37	15	73615870	73615870	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:73615870G>T	ENST00000261917.3	-	8	3557	c.2564C>A	c.(2563-2565)tCc>tAc	p.S855Y		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	855					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTGGAAGGAGGATGAAGACGG	0.677000													34	45					1.47197e-15	1.52494e-15	0.007835	1	0
RFC1	5981	broad.mit.edu	37	4	39352971	39352971	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:39352971G>A	ENST00000381897.1	-	2	262	c.129C>T	c.(127-129)atC>atT	p.I43I	RFC1_ENST00000349703.2_Silent_p.I43I|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	43					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						AACTAACCTTGATTTCCTTTA	0.249000													20	18					0	0	0.014323	0	0
CHRM3	1131	broad.mit.edu	37	1	240072012	240072012	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:240072012C>T	ENST00000255380.4	+	5	2040	c.1261C>T	c.(1261-1263)Cca>Tca	p.P421S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	421					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.P421S(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AGGCAGTTTTCCAAAAAGCTT	0.567000													4	19					0	0	0.009096	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413621	105413621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr14:105413621C>T	ENST00000333244.5	-	7	8286	c.8167G>A	c.(8167-8169)Gag>Aag	p.E2723K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2723						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)			CCGGCTCCCTCGGGAACGTGG	0.607000													109	49					0	0	0.014410	0	0
OR10A6	390093	broad.mit.edu	37	11	7949948	7949948	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:7949948C>T	ENST00000309838.2	-	1	261	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTAGTTTTTTCAGTAGAGAGG	0.438000													44	58					0	0	0.010771	0	0
SLC5A12	159963	broad.mit.edu	37	11	26720049	26720049	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:26720049G>A	ENST00000396005.3	-	7	1164	c.855C>T	c.(853-855)atC>atT	p.I285I	SLC5A12_ENST00000280467.6_Silent_p.I285I	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	285				I -> V (in Ref. 2; AAQ73572).	sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ACACCAGAATGATCCAGAGAC	0.453000													28	50					0	0	0.007291	0	0
EP400	57634	broad.mit.edu	37	12	132445520	132445520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:132445520C>T	ENST00000333577.4	+	2	465	c.356C>T	c.(355-357)tCa>tTa	p.S119L	EP400_ENST00000332482.4_Missense_Mutation_p.S119L|EP400_ENST00000389562.2_Missense_Mutation_p.S119L|EP400_ENST00000330386.6_Missense_Mutation_p.S119L|EP400_ENST00000389561.2_Missense_Mutation_p.S119L			Q96L91	EP400_HUMAN	E1A binding protein p400	119					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGGTCTCCATCATACATTCAG	0.647000													8	12					0	0	0.006214	0	0
HELZ2	85441	broad.mit.edu	37	20	62195584	62195584	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:62195584G>A	ENST00000467148.1	-	8	4660	c.4591C>T	c.(4591-4593)Cag>Tag	p.Q1531*	HELZ2_ENST00000427522.2_Nonsense_Mutation_p.Q962*	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CTATTAAACTGAATCATGTAC	0.652000													5	37					0	0	0.001984	0	0
SCTR	6344	broad.mit.edu	37	2	120221753	120221753	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:120221753G>A	ENST00000019103.5	-	6	849	c.582C>T	c.(580-582)atC>atT	p.I194I		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	194					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CGGCGTCCTTGATGAAGTTGG	0.572000													20	68					0	0	0.007413	0	0
LRRC42	115353	broad.mit.edu	37	1	54417927	54417927	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:54417927C>T	ENST00000371370.3	+	3	776	c.255C>T	c.(253-255)tcC>tcT	p.S85S	LRRC42_ENST00000319223.4_Silent_p.S85S	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	85										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TTCGGTACTCCGCCAAATCCC	0.483000													90	88					0	0	0.014410	0	0
RBBP6	5930	broad.mit.edu	37	16	24581171	24581171	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:24581171C>T	ENST00000319715.4	+	17	3592	c.3160C>T	c.(3160-3162)Cga>Tga	p.R1054*	RBBP6_ENST00000348022.2_Nonsense_Mutation_p.R1020*|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1054	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GAGATCTCCTCGATCTGAACC	0.398000													24	33					0	0	0.003330	0	0
PRKCB	5579	broad.mit.edu	37	16	24104162	24104162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:24104162C>T	ENST00000303531.7	+	6	732	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	PRKCB_ENST00000321728.7_Missense_Mutation_p.P194S|PRKCB_ENST00000482000.1_3'UTR	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	194	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CCTGTCAGATCCCTACGTAAA	0.408000													22	84					0	0	0.003330	0	0
MUC16	94025	broad.mit.edu	37	19	9050170	9050170	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:9050170C>T	ENST00000397910.4	-	5	31664	c.31461G>A	c.(31459-31461)aaG>aaA	p.K10487K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10489	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAAGTGGTCTTCAGAGCTG	0.512000													183	176					0	0	0.014410	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48601104	48601104	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:48601104C>T	ENST00000323776.5	+	12	1885	c.1723C>T	c.(1723-1725)Ctg>Ttg	p.L575L	MYCBPAP_ENST00000436259.2_Silent_p.L538L	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	538					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CGCGGTCTCCCTGACCCAGGA	0.527000													26	16					0	0	0.009535	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444294	5444294	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:5444294G>A	ENST00000300778.4	+	1	954	c.864G>A	c.(862-864)gtG>gtA	p.V288V	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCCCCGGTGATGAACCCCA	0.448000													24	46					0	0	0.002780	0	0
TSPAN8	7103	broad.mit.edu	37	12	71537976	71537976	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:71537976G>A	ENST00000393330.2	-	6	630	c.78C>T	c.(76-78)atC>atT	p.I26I	TSPAN8_ENST00000552786.1_5'UTR|TSPAN8_ENST00000247829.3_Silent_p.I26I|TSPAN8_ENST00000546561.1_Silent_p.I26I			P19075	TSN8_HUMAN	tetraspanin 8	26					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CTAATGCTAGGATCAAGATAC	0.358000													49	128					0	0	0.014410	0	0
GPANK1	7918	broad.mit.edu	37	6	31631878	31631878	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:31631878C>T	ENST00000375906.1	-	3	1062	c.378G>A	c.(376-378)ccG>ccA	p.P126P	GPANK1_ENST00000375893.2_Silent_p.P126P|GPANK1_ENST00000375895.2_Silent_p.P126P|GPANK1_ENST00000375896.4_Silent_p.P126P|GPANK1_ENST00000375900.4_Silent_p.P126P	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	126						intracellular	nucleic acid binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						CTGCCTCATGCGGTTCCAGCA	0.617000													8	719					0	0	0.004482	0	0
PTCRA	171558	broad.mit.edu	37	6	42892001	42892001	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:42892001G>A	ENST00000304672.1	+	3	495	c.414G>A	c.(412-414)gaG>gaA	p.E138E	PTCRA_ENST00000446507.1_Silent_p.E31E|PTCRA_ENST00000441198.1_Silent_p.E113E	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	138						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GCCCCCAGGAGCCTCTCAGGG	0.642000													24	63					0	0	0.003330	0	0
ANP32D	23519	broad.mit.edu	37	12	48866489	48866489	+	Silent	SNP	G	G	A	rs150593500	byFrequency	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:48866489G>A	ENST00000266594.1	+	1	42	c.42G>A	c.(40-42)agG>agA	p.R14R		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	14										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TGCGGAACAGGACGCCCTCCG	0.463000													15	67					0	0	0.003163	0	0
PSMD1	5707	broad.mit.edu	37	2	231948295	231948295	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:231948295C>T	ENST00000308696.6	+	14	1702	c.1540C>T	c.(1540-1542)Ctg>Ttg	p.L514L	PSMD1_ENST00000373635.4_Silent_p.L514L|PSMD1_ENST00000409643.1_Silent_p.L514L	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	514					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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AGCAGCTGGCCTGGCCCTAGG	0.423000													58	70					0	0	0.014410	0	0
COL9A1	1297	broad.mit.edu	37	6	70926736	70926736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:70926736C>T	ENST00000357250.6	-	38	2788	c.2630G>A	c.(2629-2631)cGa>cAa	p.R877Q	COL9A1_ENST00000370499.4_Missense_Mutation_p.R634Q|COL9A1_ENST00000320755.7_Missense_Mutation_p.R634Q|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	877	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGGGGGGCCTCGCTCACCGTC	0.607000													33	20					0	0	0.003271	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116056780	116056780	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:116056780G>A	ENST00000369271.3	-	18	2675	c.2375C>T	c.(2374-2376)tCg>tTg	p.S792L	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.S849L|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.S796L|AFAP1L2_ENST00000491814.1_5'UTR	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	796					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GACCACGACCGAGAGAGGCCT	0.567000													33	39					0	0	0.003271	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907847	12907847	+	Missense_Mutation	SNP	C	C	T	rs150230498		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:12907847C>T	ENST00000317869.6	-	2	521	c.296G>A	c.(295-297)cGa>cAa	p.R99Q		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CGCTGCTGATCGTTTCACACC	0.488000													15	158					0	0	0.003163	0	0
IPO8	10526	broad.mit.edu	37	12	30790082	30790082	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:30790082G>A	ENST00000256079.4	-	22	2867	c.2529C>T	c.(2527-2529)atC>atT	p.I843I	IPO8_ENST00000544829.1_Silent_p.I638I	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	843					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ATTCCAAAAGGATACTCAGTC	0.398000													38	26					0	0	0.009718	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162742	33162742	+	RNA	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:33162742G>A	ENST00000510327.1	-	0	346																											ATGATGAAAGGAAAAAGAATG	0.478000													4	9					0	0	0.009096	0	0
GJC1	10052	broad.mit.edu	37	17	42882355	42882355	+	Silent	SNP	A	A	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:42882355A>G	ENST00000426548.1	-	3	1100	c.831T>C	c.(829-831)taT>taC	p.Y277Y	GJC1_ENST00000592524.1_Silent_p.Y277Y|GJC1_ENST00000590758.1_Silent_p.Y277Y|GJC1_ENST00000330514.4_Silent_p.Y277Y	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	277					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				AAGTGAAAGGATAATTATAAG	0.443000													85	32					0	0	0.014410	0	0
AGBL1	123624	broad.mit.edu	37	15	86686988	86686988	+	Silent	SNP	G	G	A	rs60485756		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:86686988G>A	ENST00000441037.2	+	2	131	c.36G>A	c.(34-36)caG>caA	p.Q12Q	AGBL1_ENST00000421325.2_Silent_p.Q12Q	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	12					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CTCTTCTGCAGACCCTGGTAG	0.537000													21	80					0	0	0.008871	0	0
BOD1	91272	broad.mit.edu	37	5	173036301	173036301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:173036301C>T	ENST00000311086.4	-	3	722	c.499G>A	c.(499-501)Gca>Aca	p.A167T	BOD1_ENST00000285908.5_Intron|BOD1_ENST00000480951.1_Intron	NM_138369.2	NP_612378.1	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1	167					cell division|mitosis	condensed chromosome kinetochore|microtubule organizing center				endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						GGAGGGGGTGCTGGCACAGCT	0.527000													51	94					0	0	0.014410	0	0
DUOX2	50506	broad.mit.edu	37	15	45392024	45392024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:45392024C>T	ENST00000389039.6	-	25	3636	c.3251G>A	c.(3250-3252)cGa>cAa	p.R1084Q	DUOX2_ENST00000603300.1_Missense_Mutation_p.R1084Q			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1084	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CGCCGTGCCTCGTGACAGGAT	0.567000													28	42					0	0	0.008361	0	0
STK35	140901	broad.mit.edu	37	20	2083990	2083990	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:2083990C>T	ENST00000381482.3	+	2	1142	c.871C>T	c.(871-873)Ctg>Ttg	p.L291L	STK35_ENST00000400064.3_Silent_p.L119L|STK35_ENST00000246032.3_Silent_p.L158L			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	291	Protein kinase.			YLRLVETSLKGERILGYAEE -> GNGEGRRPQRYTKPGAE KAK (in Ref. 4; AAI11574).		cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						TTACCTGCGCCTGGTGGAGAC	0.637000													7	47					0	0	0.006214	0	0
GIF	2694	broad.mit.edu	37	11	59604762	59604762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:59604762C>T	ENST00000541311.1	-	6	915	c.681G>A	c.(679-681)atG>atA	p.M227I	GIF_ENST00000257248.2_Missense_Mutation_p.M252I			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	252					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CATTGAGTATCATATCCGTAG	0.453000													26	45					0	0	0.003330	0	0
KCND3	3752	broad.mit.edu	37	1	112318868	112318868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:112318868C>T	ENST00000369697.1	-	6	1811	c.1742G>A	c.(1741-1743)gGa>gAa	p.G581E	KCND3_ENST00000315987.2_Missense_Mutation_p.G600E|KCND3_ENST00000302127.4_Missense_Mutation_p.G581E			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	600						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGGTCTCAGTCCGTCGTCTGC	0.562000													40	42					0	0	0.006999	0	0
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													4	64					0	0	0.001168	0	0
OR51A4	401666	broad.mit.edu	37	11	4967631	4967631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:4967631C>T	ENST00000380373.2	-	1	725	c.700G>A	c.(700-702)Gag>Aag	p.E234K	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTAAGCTGCTCCTTTTTGGAT	0.473000													7	100					0	0	0.010729	0	0
AP2B1	163	broad.mit.edu	37	17	33954524	33954524	+	Splice_Site	SNP	G	G	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:33954524G>T	ENST00000262325.7	+	8	1612	c.1059_splice	c.e8+1	p.Q353_splice	AP2B1_ENST00000312678.8_Splice_Site_p.Q353_splice|AP2B1_ENST00000592545.1_Splice_Site_p.Q315_splice|AP2B1_ENST00000538556.1_Splice_Site_p.Q296_splice|AP2B1_ENST00000537622.2_Splice_Site_p.Q353_splice|AP2B1_ENST00000589344.1_Splice_Site_p.Q353_splice|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	353					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACATTGCTCAGGTCAGACTTT	0.383000													20	11					3.8784e-16	4.02676e-16	0.012319	1	0
ITGB2	3689	broad.mit.edu	37	21	46309894	46309894	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr21:46309894C>T	ENST00000397850.2	-	13	2108	c.1657_splice	c.e13+1	p.P552_splice	ITGB2_ENST00000397852.1_Splice_Site_p.P552_splice|ITGB2_ENST00000302347.5_Splice_Site_p.P552_splice|ITGB2_ENST00000397857.1_Splice_Site_p.P552_splice|ITGB2_ENST00000355153.4_Splice_Site_p.P552_splice|ITGB2_ENST00000397854.3_Splice_Site_p.P495_splice			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	552	Cysteine-rich tandem repeats.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CGGGCTCACCCGGGCCGCCGC	0.637000													31	37					0	0	0.013726	0	0
CYP11B1	1584	broad.mit.edu	37	8	143961104	143961104	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:143961104G>A	ENST00000292427.4	-	1	158	c.126C>T	c.(124-126)ccC>ccT	p.P42P	CYP11B1_ENST00000517471.1_Silent_p.P42P|CYP11B1_ENST00000377675.3_Silent_p.P42P	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	42			P -> S (in AH4; non-classic).		aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTGGACGCCGGGGCATGGCTT	0.637000									Familial Hyperaldosteronism type I				30	54					0	0	0.012213	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5146324	5146324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:5146324G>A	ENST00000274181.7	+	3	395	c.257G>A	c.(256-258)aGa>aAa	p.R86K	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R86K|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	86					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGCGGCGGAGAAGAGCAGTG	0.542000													18	49					0	0	0.008871	0	0
TLR7	51284	broad.mit.edu	37	X	12906151	12906151	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:12906151C>T	ENST00000380659.3	+	3	2663	c.2524C>T	c.(2524-2526)Ctg>Ttg	p.L842L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	842					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TAACCTGATTCTGTTCTCACT	0.453000													81	27					0	0	0.014410	0	0
OR2G6	391211	broad.mit.edu	37	1	248685610	248685610	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:248685610C>T	ENST00000343414.4	+	1	695	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGGCTTTATCACTCAAGCTG	0.478000													30	87					0	0	0.009535	0	0
ZNF34	80778	broad.mit.edu	37	8	145999521	145999521	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:145999521C>T	ENST00000429371.2	-	6	903	c.750G>A	c.(748-750)cgG>cgA	p.R250R	ZNF34_ENST00000343459.4_Silent_p.R271R	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CAGTGTGAAGCCGCTGATGCT	0.448000													41	52					0	0	0.010771	0	0
FBXL7	23194	broad.mit.edu	37	5	15928474	15928474	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:15928474C>T	ENST00000504595.1	+	3	1084	c.603C>T	c.(601-603)gaC>gaT	p.D201D	FBXL7_ENST00000329673.7_Silent_p.D189D|FBXL7_ENST00000510662.1_Silent_p.D154D	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	201					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GGCTCACAGACCGAGGGCTGT	0.597000													8	25					0	0	0.004482	0	0
OR2W3	343171	broad.mit.edu	37	1	248058924	248058924	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:248058924C>T	ENST00000537741.1	+	3	293	c.36C>T	c.(34-36)ttC>ttT	p.F12F	OR2W3_ENST00000360358.3_Silent_p.F12F			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAACCCATTTCATCCTACTGG	0.468000													16	24					0	0	0.004990	0	0
SHROOM1	134549	broad.mit.edu	37	5	132158506	132158506	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:132158506G>A	ENST00000378679.3	-	10	3345	c.2541C>T	c.(2539-2541)ttC>ttT	p.F847F	SHROOM1_ENST00000319854.3_Silent_p.F842F|SHROOM1_ENST00000378676.1_Silent_p.F778F	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	847					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAGAAGAGGGAAGGGCGGCT	0.607000													6	17					0	0	0.003080	0	0
KCNH7	90134	broad.mit.edu	37	2	163374667	163374667	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:163374667C>T	ENST00000332142.5	-	4	564	c.463_splice	c.e4-1	p.R155_splice	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Splice_Site_p.R155_splice	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	155					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CAAAAAATTTCCCTATAAATG	0.368000													32	31					0	0	0.013726	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79064127	79064127	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:79064127G>A	ENST00000388820.4	-	15	2386	c.2176C>T	c.(2176-2178)Cgc>Tgc	p.R726C	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	726	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCTTGGATGCGGATCTCGCGT	0.612000													19	50					0	0	0.008871	0	0
ATG2A	23130	broad.mit.edu	37	11	64677578	64677578	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:64677578G>A	ENST00000421419.2	-	13	1911	c.1797C>T	c.(1795-1797)gcC>gcT	p.A599A	ATG2A_ENST00000377264.3_Silent_p.A599A			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	599							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GCCGGTCCAGGGCCCCCAGCT	0.726000													13	24					0	0	0.002450	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7523559	7523559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:7523559C>T	ENST00000593531.1	+	12	1652	c.1652C>T	c.(1651-1653)tCc>tTc	p.S551F	ARHGEF18_ENST00000359920.6_Silent_p.I593I|ARHGEF18_ENST00000319670.9_Silent_p.I435I																							TGGCCCACATCCAAAGGGCTG	0.582000													8	23					0	0	0.004482	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273243	145273243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:145273243C>T	ENST00000369340.3	+	4	541	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.R33C|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.R33C|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.R33C			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	33	EGF-like 2.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TGAGAAGAACCGCTGCCAGAA	0.532000													153	769					0	0	0.014410	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807813	15807813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:15807813C>T	ENST00000550308.1	+	13	1873	c.1493C>T	c.(1492-1494)cCc>cTc	p.P498L	CYP4F12_ENST00000324632.9_Missense_Mutation_p.P498L	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CACACTGAGCCCCGCAGGAAG	0.612000													13	72					0	0	0.002450	0	0
GRID2	2895	broad.mit.edu	37	4	94006369	94006369	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:94006369C>T	ENST00000282020.4	+	3	726	c.468C>T	c.(466-468)atC>atT	p.I156I	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	156					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATGATGTTATCCTAAGAGTGG	0.438000													40	82					0	0	0.010771	0	0
KAZN	23254	broad.mit.edu	37	1	15386767	15386767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:15386767C>T	ENST00000376030.2	+	6	1310	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F	KAZN_ENST00000400797.3_Missense_Mutation_p.S245F|KAZN_ENST00000361144.5_Missense_Mutation_p.S333F|KAZN_ENST00000422387.2_Missense_Mutation_p.S339F|KAZN_ENST00000400798.2_Missense_Mutation_p.S245F|KAZN_ENST00000503743.1_Missense_Mutation_p.S339F	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	339					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GACATCAACTCCCCTCGACAC	0.706000													65	107					0	0	0.014410	0	0
LDB3	11155	broad.mit.edu	37	10	88451795	88451795	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:88451795C>T	ENST00000429277.2	+	7	1181	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L	LDB3_ENST00000310944.6_Silent_p.L278L|LDB3_ENST00000372056.4_Silent_p.L346L|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000372066.3_Silent_p.L231L|LDB3_ENST00000263066.6_Silent_p.L231L|LDB3_ENST00000361373.4_Silent_p.L278L|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000458213.2_Silent_p.L231L	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	345						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CTTCCGCATCCTGGCCCAGAT	0.617000													15	16					0	0	0.002450	0	0
OR5M11	219487	broad.mit.edu	37	11	56309983	56309983	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:56309983A>G	ENST00000528616.2	-	1	774	c.751T>C	c.(751-753)Tat>Cat	p.Y251H		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGAGTCCCATAAAACAGGGTG	0.448000													38	59					0	0	0.009718	0	0
RNF152	220441	broad.mit.edu	37	18	59483414	59483414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr18:59483414G>A	ENST00000312828.3	-	2	1382	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	95					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CCATTGCTGGGAAGTTTGATG	0.647000													31	17					0	0	0.009535	0	0
CACNA1E	777	broad.mit.edu	37	1	181741343	181741343	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:181741343C>T	ENST00000526775.1	+	36	5223	c.5058C>T	c.(5056-5058)tcC>tcT	p.S1686S	CACNA1E_ENST00000367573.2_Silent_p.S1705S|CACNA1E_ENST00000357570.5_Silent_p.S1656S|CACNA1E_ENST00000360108.3_Silent_p.S1686S|CACNA1E_ENST00000367570.1_Silent_p.S1705S|CACNA1E_ENST00000367567.4_Silent_p.S1312S|CACNA1E_ENST00000358338.5_Silent_p.S1637S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1705					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACTTTGTCTCCTTCATCTTCT	0.552000													48	56					0	0	0.014410	0	0
BAZ2A	11176	broad.mit.edu	37	12	56992444	56992444	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:56992444G>A	ENST00000179765.5	-	30	5779	c.5580C>T	c.(5578-5580)agC>agT	p.S1860S	BAZ2A_ENST00000551812.1_Silent_p.S1892S|BAZ2A_ENST00000549884.1_Silent_p.S1890S|BAZ2A_ENST00000379441.3_Silent_p.S1862S			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1892	Bromo.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CCTCCCAGCGGCTCTCGAAGA	0.552000													8	13					0	0	0.006214	0	0
TMPPE	643853	broad.mit.edu	37	3	33134463	33134463	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:33134463G>T	ENST00000342462.4	-	2	1415	c.1225C>A	c.(1225-1227)Ccc>Acc	p.P409T	GLB1_ENST00000307363.5_Intron|GLB1_ENST00000307377.8_Intron|TMPPE_ENST00000416695.2_Missense_Mutation_p.P272T|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000399402.3_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	409						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GCAAAGAAGGGATTCAGGAGA	0.562000													24	56					2.44723e-14	2.52703e-14	0.004656	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79064128	79064128	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:79064128G>A	ENST00000388820.4	-	15	2385	c.2175C>T	c.(2173-2175)atC>atT	p.I725I	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	725	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTTGGATGCGGATCTCGCGTG	0.612000													19	50					0	0	0.008871	0	0
TRAF6	7189	broad.mit.edu	37	11	36516595	36516595	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:36516595G>A	ENST00000526995.1	-	5	855	c.609C>T	c.(607-609)atC>atT	p.I203I	TRAF6_ENST00000529150.1_5'UTR|TRAF6_ENST00000348124.5_Silent_p.I203I	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	203	Interaction with TAX1BP1.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|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|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				TCTGGTCATGGATCTGAATTT	0.264000													18	49					0	0	0.010504	0	0
UBE4B	10277	broad.mit.edu	37	1	10195090	10195090	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:10195090C>T	ENST00000377157.3	+	15	2396	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	UBE4B_ENST00000253251.8_Silent_p.F561F|UBE4B_ENST00000343090.6_Silent_p.F690F	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	690					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGCTGAATTTCCTTTGGGTAC	0.328000													27	32					0	0	0.007291	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523803	24523803	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:24523803G>A	ENST00000376862.3	+	2	703	c.70G>A	c.(70-72)Ggt>Agt	p.G24S		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	24					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CAAGAGGAATGGTTTAATTAA	0.547000													18	130					0	0	0.004990	0	0
ARMC9	80210	broad.mit.edu	37	2	232160934	232160934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:232160934G>A	ENST00000349938.4	+	19	1935	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	581							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGGTGTTCTTGAATCTGATGA	0.398000													10	33					0	0	0.002450	0	0
FREM2	341640	broad.mit.edu	37	13	39433503	39433503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:39433503G>A	ENST00000280481.7	+	14	7511	c.7295G>A	c.(7294-7296)cGg>cAg	p.R2432Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2432					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACTTTGACGCGGTACCGGTGG	0.488000													55	106					0	0	0.014410	0	0
CNTN5	53942	broad.mit.edu	37	11	99872807	99872807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:99872807C>T	ENST00000524871.1	+	9	1209	c.919C>T	c.(919-921)Cct>Tct	p.P307S	CNTN5_ENST00000528682.1_Missense_Mutation_p.P307S|CNTN5_ENST00000279463.3_Missense_Mutation_p.P307S|CNTN5_ENST00000527185.1_Missense_Mutation_p.P307S|CNTN5_ENST00000418526.2_Missense_Mutation_p.P233S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	307	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.P307S(3)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGTCCATTTTCCTTTCACGGT	0.338000													20	5					0	0	0.003330	0	0
TTC12	54970	broad.mit.edu	37	11	113235695	113235695	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:113235695T>C	ENST00000529221.1	+	21	2060	c.1955T>C	c.(1954-1956)tTa>tCa	p.L652S	TTC12_ENST00000393020.1_Intron|TTC12_ENST00000314756.3_Missense_Mutation_p.L652S|TTC12_ENST00000483239.2_Missense_Mutation_p.L658S	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	652							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CAGGTCTTGTTAAAGCTTGCA	0.577000													19	37					0	0	0.007413	0	0
VAMP7	6845	broad.mit.edu	37	X	155119165	155119165	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:155119165C>T	ENST00000286448.6	+	2	201	c.36C>T	c.(34-36)acC>acT	p.T12T	VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000262640.6_Silent_p.T12T|VAMP7_ENST00000460621.1_Silent_p.T12T	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	12	Longin.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGGGGGACCACTATCCTTG	0.403000													21	65					0	0	0.014323	0	0
SLC15A3	51296	broad.mit.edu	37	11	60704797	60704797	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:60704797C>T	ENST00000227880.3	-	8	1873	c.1640G>A	c.(1639-1641)gGc>gAc	p.G547D		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	547					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GGCCTGAATGCCAGCCAGCAG	0.587000													38	64					0	0	0.008740	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64597720	64597720	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:64597720G>A	ENST00000342711.5	-	29	3312	c.3313C>T	c.(3313-3315)Cga>Tga	p.R1105*		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1105	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						AGCGCAAGTCGATCctggtct	0.612000													14	9					0	0	0.002450	0	0
TRIM8	81603	broad.mit.edu	37	10	104416543	104416543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:104416543C>T	ENST00000302424.6	+	6	1210	c.1088C>T	c.(1087-1089)cCc>cTc	p.P363L	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	363						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAGAGTGTCCCCCTGTACCCT	0.642000													42	39					0	0	0.007835	0	0
CACNA1A	773	broad.mit.edu	37	19	13325352	13325352	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:13325352G>A	ENST00000360228.5	-	39	5801	c.5802C>T	c.(5800-5802)tcC>tcT	p.S1934S	CACNA1A_ENST00000573710.2_Silent_p.S1935S	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1935					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCGTCTTCTGGGACAGATTGG	0.582000													12	15					0	0	0.003163	0	0
OR8H1	219469	broad.mit.edu	37	11	56058443	56058443	+	Silent	SNP	G	G	A	rs141901122		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:56058443G>A	ENST00000313022.2	-	1	123	c.96C>T	c.(94-96)ctC>ctT	p.L32L		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GGTATATCAGGAGAAATAGTA	0.428000													40	99					0	0	0.005524	0	0
CFAP54	144535	broad.mit.edu	37	12	97137662	97137662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:97137662C>T	ENST00000524981.3	+	21	2884	c.2884C>T	c.(2884-2886)Cgg>Tgg	p.R962W				Q6ZTY8	CL063_HUMAN		936										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTTGTTAACTCGGGCTCATAG	0.398000													12	21					0	0	0.013537	0	0
OGDH	4967	broad.mit.edu	37	7	44746876	44746876	+	Silent	SNP	A	A	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:44746876A>T	ENST00000222673.5	+	21	2727	c.2685A>T	c.(2683-2685)ccA>ccT	p.P895P	OGDH_ENST00000444676.1_Silent_p.P910P|OGDH_ENST00000543843.1_Silent_p.P846P|OGDH_ENST00000447398.1_Silent_p.P906P|OGDH_ENST00000449767.1_Silent_p.P891P|OGDH_ENST00000439616.2_Silent_p.P745P	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	895					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CTCAGAACCCAGAAAATGTCA	0.552000													33	72					0	0	0.003755	0	0
BRPF3	27154	broad.mit.edu	37	6	36196801	36196801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:36196801C>T	ENST00000534400.1	+	10	3330	c.3304C>T	c.(3304-3306)Cct>Tct	p.P1102S	BRPF3_ENST00000339717.7_Silent_p.F864F|BRPF3_ENST00000443324.2_Silent_p.F800F|BRPF3_ENST00000357641.6_Silent_p.F1134F|BRPF3_ENST00000543502.1_Silent_p.F864F|BRPF3_ENST00000534694.1_Silent_p.F800F			Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	0	PWWP.				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						AGAAGCTCTTCCTTGTCCTCT	0.622000													17	32					0	0	0.008871	0	0
ITGBL1	9358	broad.mit.edu	37	13	102345015	102345015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:102345015C>T	ENST00000376180.3	+	8	1315	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C	ITGBL1_ENST00000545560.2_Missense_Mutation_p.R225C|ITGBL1_ENST00000376162.3_Missense_Mutation_p.R273C	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	366	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGTGATGATCGCCGCTGTGA	0.468000													43	86					0	0	0.014410	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884055	24884055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr14:24884055C>T	ENST00000382554.3	+	9	3418	c.3100C>T	c.(3100-3102)Ctt>Ttt	p.L1034F		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1034					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GTGCCCGTCCCTTTCGGAGGA	0.642000													36	25					0	0	0.007835	0	0
ENOX1	55068	broad.mit.edu	37	13	43788171	43788171	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:43788171T>A	ENST00000261488.6	-	17	2464	c.1887A>T	c.(1885-1887)gaA>gaT	p.E629D	ENOX1_ENST00000412891.1_Missense_Mutation_p.E629D	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	629					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TCCATCTTTTTTCCAGCGTGG	0.453000													33	62					0	0	0.009535	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47351253	47351253	+	RNA	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:47351253G>A	ENST00000505841.1	-	0	369					NR_002788.2																						ACAAGTCCTCGACCTTATGAA	0.448000													23	38					0	0	0.003954	0	0
NPIPB6	728741	broad.mit.edu	37	16	28354372	28354372	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:28354372G>A	ENST00000532254.1	-	7	1519	c.834C>T	c.(832-834)tcC>tcT	p.S278S	NPIPB6_ENST00000533640.1_Silent_p.S260S					nuclear pore complex interacting protein family, member B6																		TGAGGCTCAGGGAGTTATCAG	0.507000													31	12					0	0	0.013726	0	0
SLC39A5	283375	broad.mit.edu	37	12	56625337	56625337	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:56625337C>T	ENST00000266980.4	+	2	572	c.279C>T	c.(277-279)tcC>tcT	p.S93S	SLC39A5_ENST00000454355.2_Silent_p.S93S	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	93					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGACAATTCCACACACAGGT	0.627000													29	51					0	0	0.007291	0	0
CCDC18	343099	broad.mit.edu	37	1	93687259	93687259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:93687259C>T	ENST00000343253.7	+	15	2555	c.2053C>T	c.(2053-2055)Cat>Tat	p.H685Y	CCDC18_ENST00000421014.2_3'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.H686Y|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.H804Y|CCDC18_ENST00000338949.4_Missense_Mutation_p.H441Y			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	685										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CAAACAACATCATCTTGAATC	0.318000													88	243					0	0	0.014410	0	0
AMER3	205147	broad.mit.edu	37	2	131521822	131521822	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:131521822C>T	ENST00000423981.1	+	2	2287	c.2177C>T	c.(2176-2178)cCc>cTc	p.P726L	AMER3_ENST00000321420.4_Missense_Mutation_p.P726L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		AGCAGCTCCCCCAGCATGACC	0.642000													17	20					0	0	0.008871	0	0
PLXNA4	91584	broad.mit.edu	37	7	131895818	131895818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:131895818G>A	ENST00000359827.3	-	10	3144	c.2182C>T	c.(2182-2184)Ccc>Tcc	p.P728S	PLXNA4_ENST00000321063.4_Missense_Mutation_p.P728S			Q9HCM2	PLXA4_HUMAN	plexin A4	728						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						TGGGGCTGGGGGAGGTTCTTG	0.632000													9	20					0	0	0.004482	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30700559	30700559	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:30700559G>A	ENST00000215790.7	-	2	434	c.270C>T	c.(268-270)ctC>ctT	p.L90L	TBC1D10A_ENST00000403477.3_Silent_p.L97L|TBC1D10A_ENST00000403362.1_Silent_p.L2L|TBC1D10A_ENST00000490449.1_5'UTR	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	90						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CCCAGTTGTTGAGCATGTCCA	0.602000													20	9					0	0	0.010504	0	0
SATB2	23314	broad.mit.edu	37	2	200213619	200213619	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:200213619G>A	ENST00000443023.1	-	6	2266	c.801C>T	c.(799-801)ctC>ctT	p.L267L	SATB2_ENST00000260926.5_Silent_p.L326L|SATB2_ENST00000417098.1_Silent_p.L326L|SATB2_ENST00000457245.1_Silent_p.L326L|SATB2_ENST00000428695.1_Silent_p.L208L			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	326						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTGAGCCAGGAGCCGGCTAA	0.532000													47	61					0	0	0.014410	0	0
CASR	846	broad.mit.edu	37	3	121980842	121980842	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:121980842C>T	ENST00000498619.1	+	4	1398	c.960C>T	c.(958-960)ttC>ttT	p.F320F	CASR_ENST00000296154.5_Silent_p.F320F|CASR_ENST00000490131.1_Silent_p.F320F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	320					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCATTGGATTCGCTCTGAAGG	0.577000													26	44					0	0	0.004656	0	0
ZNF845	91664	broad.mit.edu	37	19	53856127	53856127	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:53856127C>T	ENST00000458035.1	+	4	2316	c.2199C>T	c.(2197-2199)tcC>tcT	p.S733S	ZNF845_ENST00000595091.1_Silent_p.S733S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	733				Missing (in Ref. 1; BAG58121).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGAAGTCATCCCTTACATGCC	0.408000													19	47					0	0	0.008871	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169131	50169131	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:50169131C>T	ENST00000246785.3	+	1	309	c.51C>T	c.(49-51)ttC>ttT	p.F17F	BCL2L12_ENST00000441864.2_Silent_p.F17F|IRF3_ENST00000377139.3_5'UTR|BCL2L12_ENST00000246784.3_Silent_p.F17F	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	17					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TTTTGGGTTTCCGGCCAGAGG	0.572000													18	82					0	0	0.010504	0	0
GPR141	353345	broad.mit.edu	37	7	37780595	37780595	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:37780595G>A	ENST00000447769.1	+	4	889	c.600G>A	c.(598-600)caG>caA	p.Q200Q	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Silent_p.Q200Q|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	200						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGTCTTCCAGGTCTTCATCA	0.393000													59	122					0	0	0.014410	0	0
FGD4	121512	broad.mit.edu	37	12	32791740	32791740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:32791740C>T	ENST00000266482.3	+	17	2568	c.1310C>T	c.(1309-1311)cCa>cTa	p.P437L	FGD4_ENST00000534526.2_Intron|FGD4_ENST00000525053.1_Intron|FGD4_ENST00000531134.1_Intron|FGD4_ENST00000427716.2_Intron|FGD4_ENST00000546442.1_Intron			Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	0	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GTATCTAAACCACATCTGTCT	0.498000													19	44					0	0	0.002780	0	0
PRLR	5618	broad.mit.edu	37	5	35065428	35065428	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:35065428C>T	ENST00000382002.5	-	10	2058	c.1632G>A	c.(1630-1632)aaG>aaA	p.K544K	PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000342362.5_Silent_p.K443K|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Silent_p.K443K|PRLR_ENST00000397391.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	544					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGGCATACTCCTTATTGTTCT	0.478000													34	37					0	0	0.013726	0	0
GAS2	2620	broad.mit.edu	37	11	22777461	22777461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:22777461G>A	ENST00000454584.2	+	7	990	c.685G>A	c.(685-687)Gga>Aga	p.G229R	GAS2_ENST00000433790.1_Missense_Mutation_p.G229R|GAS2_ENST00000278187.3_Missense_Mutation_p.G229R	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	229	GAR.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						GCTCTCCCAAGGAAGATACCG	0.408000													15	30					0	0	0.004990	0	0
TOX2	84969	broad.mit.edu	37	20	42680182	42680182	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:42680182C>T	ENST00000358131.5	+	4	883	c.675C>T	c.(673-675)ttC>ttT	p.F225F	TOX2_ENST00000423191.1_Silent_p.F174F|TOX2_ENST00000372999.1_Silent_p.F174F|TOX2_ENST00000435864.2_Silent_p.F94F|TOX2_ENST00000341197.3_Silent_p.F216F	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AAGTGCATTTCAAGGTATGTG	0.612000													12	56					0	0	0.010729	0	0
ARHGDIB	397	broad.mit.edu	37	12	15095556	15095556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:15095556C>T	ENST00000228945.4	-	6	650	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541644.1_Missense_Mutation_p.R169Q|ARHGDIB_ENST00000541546.1_Missense_Mutation_p.R169Q	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	169				RG -> QD (in Ref. 3; L07916).	actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						GTACGTGCCTCGCGCCAGCAT	0.532000													39	83					0	0	0.007835	0	0
SPEF2	79925	broad.mit.edu	37	5	35763793	35763793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:35763793G>A	ENST00000440995.2	+	26	3775	c.3775G>A	c.(3775-3777)Gta>Ata	p.V1259I	SPEF2_ENST00000356031.3_Missense_Mutation_p.V1264I|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1264					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)			TTCTTTAGCAGTATCTCACAT	0.408000													36	34					0	0	0.006230	0	0
STXBP5L	9515	broad.mit.edu	37	3	120764302	120764302	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:120764302T>G	ENST00000273666.6	+	5	661	c.390T>G	c.(388-390)agT>agG	p.S130R	STXBP5L_ENST00000497029.1_Missense_Mutation_p.S130R|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S130R|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S130R|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S130R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	130					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCAGTGCAAGTTCAGATGATA	0.348000													34	192					0	0	0.006230	0	0
HMCN1	83872	broad.mit.edu	37	1	186072702	186072702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:186072702C>T	ENST00000271588.4	+	69	10901	c.10672C>T	c.(10672-10674)Cct>Tct	p.P3558S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P3558S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3558	Ig-like C2-type 34.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATCCCAGCCCCTAAAATGAC	0.453000													40	46					0	0	0.006999	0	0
KCNMB4	27345	broad.mit.edu	37	12	70824296	70824296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:70824296G>A	ENST00000258111.4	+	3	955	c.496G>A	c.(496-498)Gat>Aat	p.D166N		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	166					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TCGCACTCATGATGAGATTGT	0.493000													36	120					0	0	0.004289	0	0
SYT10	341359	broad.mit.edu	37	12	33579337	33579337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:33579337G>A	ENST00000228567.3	-	2	541	c.245C>T	c.(244-246)cCa>cTa	p.P82L	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	82						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTCCAGCATGGCCAACACAG	0.438000													4	21					0	0	0.009096	0	0
OR4C12	283093	broad.mit.edu	37	11	50003287	50003287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:50003287G>A	ENST00000335238.4	-	1	784	c.751C>T	c.(751-753)Ccc>Tcc	p.P251S		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P251A(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						AATATACAGGGCACAAAGAAT	0.418000													20	25					0	0	0.010504	0	0
TTC27	55622	broad.mit.edu	37	2	32889429	32889429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:32889429C>T	ENST00000317907.4	+	6	931	c.700C>T	c.(700-702)Cat>Tat	p.H234Y		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	234							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TATTCAATTCCATCTGGAATG	0.308000													21	62					0	0	0.002780	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998397	8998397	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:8998397G>A	ENST00000310455.3	-	2	915	c.765C>T	c.(763-765)tcC>tcT	p.S255S	PPP1R3B_ENST00000519699.1_Silent_p.S255S	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	255					glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ACTGGTCAAAGGATATTCCCA	0.502000													32	51					0	0	0.013726	0	0
OR51A2	401667	broad.mit.edu	37	11	4976244	4976244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:4976244C>T	ENST00000380371.1	-	1	699	c.700G>A	c.(700-702)Gag>Aag	p.E234K	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTAAGCTCCTCCTTTTTGGAT	0.478000													25	5					0	0	0.005443	0	0
NLRP13	126204	broad.mit.edu	37	19	56424469	56424469	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:56424469C>T	ENST00000588751.1	-	5	738	c.714G>A	c.(712-714)ggG>ggA	p.G238G	NLRP13_ENST00000342929.3_Silent_p.G238G			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	238	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCTTCCCAACCCCTGCCCTCC	0.512000													63	99					0	0	0.014410	0	0
CACNA1E	777	broad.mit.edu	37	1	181765951	181765951	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:181765951C>T	ENST00000526775.1	+	45	6335	c.6170C>T	c.(6169-6171)tCc>tTc	p.S2057F	CACNA1E_ENST00000367573.2_Missense_Mutation_p.S2119F|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S2070F|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2100F|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S2076F|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1683F|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S2008F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2119					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCCGTCAATCCAGGTCACCC	0.587000													5	8					0	0	0.000602	0	0
TMEM52B	120939	broad.mit.edu	37	12	10339129	10339129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:10339129C>T	ENST00000298530.3	+	3	766	c.188C>T	c.(187-189)cCc>cTc	p.P63L	TMEM52B_ENST00000536952.1_Missense_Mutation_p.P83L|TMEM52B_ENST00000381923.2_Missense_Mutation_p.P83L	NM_153022.2	NP_694567.1			transmembrane protein 52B																		GGCCCACCACCCTGTGAAGTG	0.557000													21	66					0	0	0.002780	0	0
TFIP11	24144	broad.mit.edu	37	22	26906129	26906129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:26906129G>A	ENST00000407690.1	-	4	393	c.110C>T	c.(109-111)cCc>cTc	p.P37L	TFIP11_ENST00000407431.1_Missense_Mutation_p.P37L|TFIP11_ENST00000407148.1_Missense_Mutation_p.P37L|TFIP11_ENST00000405938.1_Missense_Mutation_p.P37L	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	37					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTGTCGGTTGGGGTTGAACTC	0.567000													70	29					0	0	0.014410	0	0
ZNF827	152485	broad.mit.edu	37	4	146823351	146823351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:146823351G>A	ENST00000508784.1	-	2	1287	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.P354S			Q17R98	ZN827_HUMAN	zinc finger protein 827	354	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTTCCCTTAGGAACTGGGAGT	0.448000													16	37					0	0	0.012319	0	0
EIF3J	8669	broad.mit.edu	37	15	44852491	44852491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:44852491C>T	ENST00000261868.5	+	7	754	c.616C>T	c.(616-618)Ctt>Ttt	p.L206F	EIF3J_ENST00000535391.1_Missense_Mutation_p.L152F|EIF3J_ENST00000424492.3_Missense_Mutation_p.L157F	NM_003758.2	NP_003749.2	O75822	EIF3J_HUMAN	eukaryotic translation initiation factor 3, subunit J	206						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		ACTGACTGTGCTTTGCAGTGA	0.323000													12	51					0	0	0.013537	0	0
EXTL1	2134	broad.mit.edu	37	1	26349709	26349709	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:26349709G>C	ENST00000374280.3	+	1	1439	c.572G>C	c.(571-573)cGg>cCg	p.R191P	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	191					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GACTCCTTCCGGCCCGGCTTT	0.682000													16	49					0	0	0.004007	0	0
C5orf30	90355	broad.mit.edu	37	5	102611805	102611805	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:102611805T>C	ENST00000319933.2	+	3	493	c.185T>C	c.(184-186)gTt>gCt	p.V62A	C5orf30_ENST00000515669.1_Missense_Mutation_p.V62A|C5orf30_ENST00000510890.1_Missense_Mutation_p.V62A	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN	chromosome 5 open reading frame 30	62										NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		AACTATTTGGTTGGCTTCACG	0.567000													26	30					0	0	0.003330	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71555700	71555700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:71555700C>T	ENST00000265382.3	+	14	1801	c.1496C>T	c.(1495-1497)tCa>tTa	p.S499L	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.S499L	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	499						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		ACACTCTATTCAAACAGGTAA	0.438000													16	56					0	0	0.004007	0	0
C11orf63	79864	broad.mit.edu	37	11	122805710	122805710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:122805710G>A	ENST00000227349.2	+	5	1858	c.1561G>A	c.(1561-1563)Gga>Aga	p.G521R	C11orf63_ENST00000531316.1_Missense_Mutation_p.G521R	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	521										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AAATACTCATGGATCAACCAA	0.363000													43	49					0	0	0.008740	0	0
ADAM33	80332	broad.mit.edu	37	20	3652925	3652925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:3652925G>A	ENST00000356518.2	-	14	1694	c.1453C>T	c.(1453-1455)Cct>Tct	p.P485S	ADAM33_ENST00000379861.4_Missense_Mutation_p.P485S|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Missense_Mutation_p.P485S	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	485	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CAAAACTCAGGGAGGTCACAG	0.662000													50	133					0	0	0.014410	0	0
GPR61	83873	broad.mit.edu	37	1	110086489	110086489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:110086489G>A	ENST00000527748.1	+	2	1528	c.845G>A	c.(844-846)gGa>gAa	p.G282E		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	282						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACGTTTGGGGGAGGGAAAGCA	0.622000													74	67					0	0	0.014410	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58601475	58601475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:58601475C>T	ENST00000240727.6	-	2	559	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.E110K|ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.E54K	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	54	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E54*(1)|p.E54K(1)|p.E110*(1)|p.E110K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TAGACAAATTCCCGGAAACGC	0.677000													16	31					0	0	0.007413	0	0
DPY19L1	23333	broad.mit.edu	37	7	35009087	35009087	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:35009087G>A	ENST00000310974.4	-	9	897	c.753C>T	c.(751-753)ttC>ttT	p.F251F	DPY19L1_ENST00000462134.2_5'UTR	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	251						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AAGGAAGCATGAAAAATACAT	0.343000													12	70					0	0	0.002450	0	0
FAM135B	51059	broad.mit.edu	37	8	139165175	139165175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:139165175C>T	ENST00000395297.1	-	13	1713	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	515										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CATTCATCTTCAGGCACACCT	0.463000										HNSCC(54;0.14)			58	71					0	0	0.014410	0	0
CDK18	5129	broad.mit.edu	37	1	205496943	205496943	+	Missense_Mutation	SNP	C	C	T	rs141496311		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:205496943C>T	ENST00000360066.2	+	9	1052	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Missense_Mutation_p.R281W|CDK18_ENST00000429964.2_Missense_Mutation_p.R251W	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	249	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	p.R281R(1)|p.R251R(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CCAGCTGCTCCGGGGCCTCGC	0.627000													47	51					0	0	0.014410	0	0
MYH4	4622	broad.mit.edu	37	17	10369674	10369674	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:10369674G>A	ENST00000255381.2	-	4	374	c.264C>T	c.(262-264)atC>atT	p.I88I	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	88	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCATGTCCTCGATCTTGTCAT	0.438000													50	36					0	0	0.014410	0	0
RXFP2	122042	broad.mit.edu	37	13	32355863	32355863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:32355863G>A	ENST00000298386.2	+	10	912	c.841G>A	c.(841-843)Gat>Aat	p.D281N	RXFP2_ENST00000380314.1_Missense_Mutation_p.D281N	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	281						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TCTGTCGTGCGATTCGCTCAC	0.323000													20	33					0	0	0.002780	0	0
CAMP	820	broad.mit.edu	37	3	48266876	48266876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:48266876G>A	ENST00000296435.2	+	4	640	c.484G>A	c.(484-486)Gat>Aat	p.D162N	CAMP_ENST00000576243.1_Missense_Mutation_p.D159N	NM_004345.4	NP_004336.3	P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	159					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GAGAATCAAGGATTTTTTGCG	0.448000													63	123					0	0	0.014410	0	0
DVL2	1856	broad.mit.edu	37	17	7134114	7134114	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:7134114A>C	ENST00000005340.5	-	2	479	c.197T>G	c.(196-198)gTg>gGg	p.V66G	DVL2_ENST00000575458.1_Missense_Mutation_p.V66G	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	66	DIX.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TTCCTTCACCACCCTGCCAAG	0.577000													54	21					0	0	0.014410	0	0
PREX2	80243	broad.mit.edu	37	8	69012065	69012065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:69012065C>T	ENST00000288368.4	+	23	2979	c.2702C>T	c.(2701-2703)tCc>tTc	p.S901F	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	901					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGAGAATATCCAGTTATAAA	0.284000													31	44					0	0	0.010818	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377589	50377589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:50377589G>A	ENST00000376020.2	-	4	1509	c.1484C>T	c.(1483-1485)cCc>cTc	p.P495L	SHROOM4_ENST00000460112.3_Missense_Mutation_p.P379L|SHROOM4_ENST00000289292.7_Missense_Mutation_p.P495L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	495					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCCATGTGGGGGACTGCTTTG	0.527000													65	25					0	0	0.014410	0	0
DNAJC3	5611	broad.mit.edu	37	13	96329538	96329538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:96329538G>A	ENST00000602402.1	+	1	146	c.29G>A	c.(28-30)cGg>cAg	p.R10Q	DNAJC3_ENST00000376795.6_Missense_Mutation_p.R10Q	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	10					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			GTGACCAGCCGGCTGGGCTCG	0.692000													32	48					0	0	0.003755	0	0
PTPRD	5789	broad.mit.edu	37	9	8331707	8331707	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:8331707G>A	ENST00000381196.4	-	41	5952	c.5409C>T	c.(5407-5409)ttC>ttT	p.F1803F	PTPRD_ENST00000537002.1_Silent_p.F1393F|PTPRD_ENST00000360074.4_Silent_p.F1790F|PTPRD_ENST00000356435.5_Silent_p.F1803F|PTPRD_ENST00000355233.5_Silent_p.F1397F|PTPRD_ENST00000397606.3_Silent_p.F1396F|PTPRD_ENST00000540109.1_Silent_p.F1803F|PTPRD_ENST00000397617.3_Silent_p.F1396F|PTPRD_ENST00000358503.5_Silent_p.F1781F|PTPRD_ENST00000486161.1_Silent_p.F1396F|PTPRD_ENST00000397611.3_Silent_p.F1393F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1803	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CAGTGAACTGGAACTGCCTTA	0.517000										TSP Lung(15;0.13)			35	16					0	0	0.004289	0	0
MCUR1	63933	broad.mit.edu	37	6	13802488	13802488	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:13802488G>A	ENST00000379170.4	-	3	764	c.626C>T	c.(625-627)aCc>aTc	p.T209I		NM_001031713.3	NP_001026883.1			mitochondrial calcium uniporter regulator 1																		CTGCATCTTGGTGACCATATC	0.398000													27	71					0	0	0.009535	0	0
SI	6476	broad.mit.edu	37	3	164780204	164780204	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:164780204G>A	ENST00000264382.3	-	9	1037	c.975C>T	c.(973-975)atC>atT	p.I325I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	325	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.I325I(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTCCTAGAAGGATGTAAAAAT	0.313000										HNSCC(35;0.089)			25	39					0	0	0.007291	0	0
VPS16	64601	broad.mit.edu	37	20	2846928	2846928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:2846928C>T	ENST00000380445.3	+	23	2414	c.2342C>T	c.(2341-2343)cCc>cTc	p.P781L	PTPRA_ENST00000380393.3_Intron|VPS16_ENST00000380443.3_Missense_Mutation_p.P467L|VPS16_ENST00000380469.3_Missense_Mutation_p.P637L	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	781					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CGCGTGGGTCCCGAGCAGAAG	0.557000													27	72					0	0	0.008361	0	0
TNIK	23043	broad.mit.edu	37	3	170879075	170879075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:170879075C>T	ENST00000436636.2	-	11	1344	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N	TNIK_ENST00000357327.5_Missense_Mutation_p.D334N|TNIK_ENST00000460047.1_Missense_Mutation_p.D334N|TNIK_ENST00000369326.5_Missense_Mutation_p.D334N|TNIK_ENST00000284483.8_Missense_Mutation_p.D334N|TNIK_ENST00000341852.6_Missense_Mutation_p.D334N|TNIK_ENST00000470834.1_Missense_Mutation_p.D334N|TNIK_ENST00000475336.1_Missense_Mutation_p.D334N|TNIK_ENST00000538048.1_Missense_Mutation_p.D334N|TNIK_ENST00000488470.1_Missense_Mutation_p.D334N	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	334	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCTCCTGAGTCATTCTCCTCC	0.418000													18	37					0	0	0.008871	0	0
OLAH	55301	broad.mit.edu	37	10	15106407	15106407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:15106407G>A	ENST00000378217.3	+	6	654	c.467G>A	c.(466-468)gGa>gAa	p.G156E	OLAH_ENST00000378228.3_Missense_Mutation_p.G103E	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	103					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TTTAGTATGGGATCCTACATT	0.358000													17	8					0	0	0.006122	0	0
EXTL3	2137	broad.mit.edu	37	8	28574495	28574495	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:28574495C>T	ENST00000220562.4	+	3	1821	c.919C>T	c.(919-921)Cag>Tag	p.Q307*	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	307						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CTACACTGTCCAGTACAGACC	0.522000													19	25					0	0	0.007413	0	0
OR9A4	130075	broad.mit.edu	37	7	141619558	141619558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:141619558G>A	ENST00000548136.1	+	1	942	c.883G>A	c.(883-885)Gat>Aat	p.D295N	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CCTCCGGAATGATAAAGTCAT	0.458000													36	63					0	0	0.008740	0	0
CA3	761	broad.mit.edu	37	8	86351966	86351966	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:86351966C>T	ENST00000285381.2	+	2	143	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	20					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ATGAACTTTTCCCAAATGCCA	0.478000													18	31					0	0	0.008871	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			49	29					0	0	0.014410	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204433251	204433251	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:204433251G>T	ENST00000367187.3	-	6	1755	c.1199C>A	c.(1198-1200)aCt>aAt	p.T400N	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.T400N	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	400					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CAAGTCTACAGTGGAGGAACC	0.542000													36	98					5.04308e-16	5.23027e-16	0.006230	1	0
UBR5	51366	broad.mit.edu	37	8	103324674	103324674	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:103324674G>A	ENST00000520539.1	-	17	2653	c.2047C>T	c.(2047-2049)Cca>Tca	p.P683S	UBR5_ENST00000220959.4_Missense_Mutation_p.P683S|UBR5_ENST00000521922.1_Missense_Mutation_p.P677S	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	683					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GAGGTTCCTGGAAATTTTACA	0.378000													25	54					0	0	0.007291	0	0
OR52M1	119772	broad.mit.edu	37	11	4567312	4567312	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:4567312C>T	ENST00000360213.1	+	1	892	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTATGCTGTTCGCACCAAGCA	0.448000													15	46					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179498736	179498736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:179498736C>T	ENST00000589042.1	-	231	42714	c.42490G>A	c.(42490-42492)Gaa>Aaa	p.E14164K	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5224K|TTN_ENST00000591111.1_Missense_Mutation_p.E12523K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5099K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11596K|TTN_ENST00000342175.6_Missense_Mutation_p.E5291K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12523	Fibronectin type-III 2.						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)			TGAGAAAGTTCACAAACAAAA	0.373000													78	81					0	0	0.014410	0	0
FLRT1	23769	broad.mit.edu	37	11	63885726	63885726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:63885726G>A	ENST00000246841.3	+	2	3030	c.1987G>A	c.(1987-1989)Gac>Aac	p.D663N	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	635					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						GGGCTACCGGGACGGCGGCAT	0.647000													29	35					0	0	0.010818	0	0
FER1L6	654463	broad.mit.edu	37	8	124968253	124968253	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:124968253G>A	ENST00000522917.1	+	2	221	c.15G>A	c.(13-15)aaG>aaA	p.K5K	FER1L6_ENST00000399018.1_Silent_p.K5K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	5						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTGGGCTGAAGGTGAAGAAGA	0.443000													13	20					0	0	0.003163	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519169	113519169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:113519169C>T	ENST00000284601.3	-	4	2046	c.1978G>A	c.(1978-1980)Gaa>Aaa	p.E660K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	660					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCCTGACTTTCCAGAACATTC	0.368000													65	138					0	0	0.014410	0	0
ZPLD1	131368	broad.mit.edu	37	3	102196359	102196359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:102196359G>A	ENST00000306176.1	+	11	1293	c.1193G>A	c.(1192-1194)gGa>gAa	p.G398E	ZPLD1_ENST00000466937.1_Missense_Mutation_p.G382E|ZPLD1_ENST00000491959.1_Missense_Mutation_p.G382E	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	382						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GTCATTCTGGGAGTTACGAGC	0.483000													93	176					0	0	0.014410	0	0
SLC39A8	64116	broad.mit.edu	37	4	103225507	103225507	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:103225507G>A	ENST00000424970.2	-	6	1122	c.807C>T	c.(805-807)atC>atT	p.I269I	SLC39A8_ENST00000394833.2_Silent_p.I269I|SLC39A8_ENST00000356736.4_Silent_p.I269I	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	269						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		TATCAAAATGGATATGTCCAT	0.358000													21	39					0	0	0.012319	0	0
UBA7	7318	broad.mit.edu	37	3	49850926	49850926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:49850926C>T	ENST00000333486.3	-	2	369	c.211G>A	c.(211-213)Gac>Aac	p.D71N	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	71	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCAGCCAGGTCGGACCAGCAG	0.657000													46	102					0	0	0.014410	0	0
GPR98	84059	broad.mit.edu	37	5	89924493	89924493	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:89924493G>A	ENST00000405460.2	+	8	1449	c.1353G>A	c.(1351-1353)ccG>ccA	p.P451P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	451	Calx-beta 4.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATATCAGACCGAGCTCTGGAG	0.478000													34	57					0	0	0.004289	0	0
SNAP91	9892	broad.mit.edu	37	6	84368726	84368726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:84368726C>T	ENST00000428679.2	-	6	1131	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	SNAP91_ENST00000520213.1_Missense_Mutation_p.E180K|SNAP91_ENST00000195649.6_Missense_Mutation_p.E180K|SNAP91_ENST00000521743.1_Missense_Mutation_p.E180K|SNAP91_ENST00000520302.1_Missense_Mutation_p.E180K|SNAP91_ENST00000437520.1_Missense_Mutation_p.E180K|SNAP91_ENST00000369694.2_Missense_Mutation_p.E180K|SNAP91_ENST00000521485.1_Missense_Mutation_p.E180K|SNAP91_ENST00000439399.2_Missense_Mutation_p.E180K			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	180					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ACATCAAATTCAAGCAGTGCA	0.383000													13	1					0	0	0.001855	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			34	17					0	0	0.003271	0	0
KDM2B	84678	broad.mit.edu	37	12	121878776	121878776	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:121878776G>A	ENST00000377069.4	-	20	3652	c.3246C>T	c.(3244-3246)ctC>ctT	p.L1082L	KDM2B_ENST00000377071.4_Silent_p.L1151L|KDM2B_ENST00000542973.1_Silent_p.L519L|KDM2B_ENST00000536437.1_Intron	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1151	F-box.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCAAGTCCCGGAGCCCTGGGG	0.652000													25	31					0	0	0.003954	0	0
SCN5A	6331	broad.mit.edu	37	3	38629054	38629054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:38629054C>T	ENST00000413689.1	-	15	2466	c.2273G>A	c.(2272-2274)gGg>gAg	p.G758E	SCN5A_ENST00000414099.2_Missense_Mutation_p.G758E|SCN5A_ENST00000455624.2_Missense_Mutation_p.G758E|SCN5A_ENST00000451551.2_Missense_Mutation_p.G758E|SCN5A_ENST00000425664.1_Missense_Mutation_p.G758E|SCN5A_ENST00000450102.2_Missense_Mutation_p.G758E|SCN5A_ENST00000449557.2_Missense_Mutation_p.G758E|SCN5A_ENST00000443581.1_Missense_Mutation_p.G758E|SCN5A_ENST00000333535.4_Missense_Mutation_p.G758E|SCN5A_ENST00000423572.2_Missense_Mutation_p.G758E	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	758					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGTGAAAATCCCTGTGAAGAC	0.542000													14	35					0	0	0.004990	0	0
TNR	7143	broad.mit.edu	37	1	175325460	175325460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:175325460G>A	ENST00000367674.1	-	16	3821	c.3113C>T	c.(3112-3114)tCt>tTt	p.S1038F	TNR_ENST00000263525.2_Missense_Mutation_p.S1038F	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1038	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTCACGAGTAGAAAAGTTGGT	0.483000													51	65					0	0	0.014410	0	0
PHF20	51230	broad.mit.edu	37	20	34519238	34519238	+	Silent	SNP	G	G	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:34519238G>T	ENST00000374012.3	+	15	2301	c.2172G>T	c.(2170-2172)ctG>ctT	p.L724L	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	724					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TGCATGGCCTGGCATTTCTAG	0.502000													31	103					7.26314e-15	7.50814e-15	0.007291	1	0
TBC1D22A	25771	broad.mit.edu	37	22	47393560	47393560	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:47393560C>T	ENST00000337137.4	+	10	1322	c.1156C>T	c.(1156-1158)Caa>Taa	p.Q386*	TBC1D22A_ENST00000355704.3_Nonsense_Mutation_p.Q308*|TBC1D22A_ENST00000406733.1_Nonsense_Mutation_p.Q339*|TBC1D22A_ENST00000407381.3_Nonsense_Mutation_p.Q327*	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	386	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		ACCTGGGATTCAAATGAAAGT	0.458000													40	21					0	0	0.014410	0	0
CREBBP	1387	broad.mit.edu	37	16	3860727	3860727	+	Silent	SNP	T	T	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:3860727T>A	ENST00000262367.5	-	3	1661	c.852A>T	c.(850-852)ggA>ggT	p.G284G	CREBBP_ENST00000382070.3_Silent_p.G284G	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	284	Interaction with SRCAP.				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)		TTGGCTGCCCTCCAGCTTGAC	0.478000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						31	38					0	0	0.010818	0	0
ZBTB4	57659	broad.mit.edu	37	17	7365360	7365360	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:7365360G>A	ENST00000311403.4	-	4	3280	c.2941C>T	c.(2941-2943)Cca>Tca	p.P981S	ZBTB4_ENST00000380599.4_Missense_Mutation_p.P981S	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	981					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGTGTTGGTGGGGCAGGGGGT	0.602000													55	110					0	0	0.014410	0	0
C1orf127	148345	broad.mit.edu	37	1	11015049	11015049	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:11015049G>A	ENST00000377004.4	-	9	972	c.973C>T	c.(973-975)Cag>Tag	p.Q325*	C1orf127_ENST00000377008.4_Nonsense_Mutation_p.Q158*	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	176										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ATACTCACCTGGACCTGGAGC	0.557000													30	43					0	0	0.012213	0	0
MXRA5	25878	broad.mit.edu	37	X	3228206	3228206	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:3228206C>T	ENST00000217939.6	-	7	8192	c.8038G>A	c.(8038-8040)Gag>Aag	p.E2680K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2680	Ig-like C2-type 11.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGGGGCCCTCCAGATGCATG	0.607000													49	17					0	0	0.014410	0	0
IBSP	3381	broad.mit.edu	37	4	88723662	88723662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:88723662G>A	ENST00000226284.5	+	3	124	c.57G>A	c.(55-57)atG>atA	p.M19I		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	19					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		TAAAACAGATGAAAAATTTGC	0.274000													18	26					0	0	0.004990	0	0
PBX1	5087	broad.mit.edu	37	1	164776781	164776781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:164776781G>A	ENST00000420696.2	+	5	892	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	PBX1_ENST00000540236.1_Missense_Mutation_p.R235Q|PBX1_ENST00000540246.1_Missense_Mutation_p.R130Q|PBX1_ENST00000401534.1_Missense_Mutation_p.R235Q|PBX1_ENST00000560641.1_Missense_Mutation_p.R130Q|PBX1_ENST00000367897.1_Missense_Mutation_p.R235Q|PBX1_ENST00000559240.1_Missense_Mutation_p.R235Q	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	235					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	p.R235L(1)	EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TTACAAAGGCGGAAGAGACGG	0.383000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								18	91					0	0	0.007413	0	0
TEX10	54881	broad.mit.edu	37	9	103109085	103109085	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:103109085T>C	ENST00000374902.4	-	3	960	c.784A>G	c.(784-786)Agc>Ggc	p.S262G	TEX10_ENST00000535814.1_Missense_Mutation_p.S265G|TEX10_ENST00000537512.1_Missense_Mutation_p.S197G	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	262						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		ATGGAGTTGCTAGTGGCATGG	0.448000													88	52					0	0	0.014410	0	0
TACC3	10460	broad.mit.edu	37	4	1746493	1746493	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:1746493C>T	ENST00000313288.4	+	15	2491	c.2385C>T	c.(2383-2385)gcC>gcT	p.A795A		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	795						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AAGCGTTGGCCCTCCAGGCCA	0.682000													18	36					0	0	0.006122	0	0
DCAF6	55827	broad.mit.edu	37	1	167960470	167960470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:167960470C>T	ENST00000367840.3	+	6	675	c.581C>T	c.(580-582)gCc>gTc	p.A194V	DCAF6_ENST00000367843.3_Missense_Mutation_p.A194V|DCAF6_ENST00000432587.2_Missense_Mutation_p.A163V|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000312263.6_Missense_Mutation_p.A194V	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	194					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CGACGTGCTGCCACGTCTGTT	0.363000													12	49					0	0	0.003163	0	0
AFF2	2334	broad.mit.edu	37	X	147985781	147985781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:147985781C>T	ENST00000370460.2	+	9	1869	c.1390C>T	c.(1390-1392)Cct>Tct	p.P464S	AFF2_ENST00000342251.3_Missense_Mutation_p.P431S|AFF2_ENST00000370457.5_Missense_Mutation_p.P431S|AFF2_ENST00000286437.5_Missense_Mutation_p.P105S|AFF2_ENST00000370458.1_Missense_Mutation_p.P425S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	464					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TAGGAATAATCCTGTGAAGTA	0.318000													73	20					0	0	0.014410	0	0
CHIT1	1118	broad.mit.edu	37	1	203186114	203186114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:203186114G>A	ENST00000367229.1	-	11	1338	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F	CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Missense_Mutation_p.S416F|CHIT1_ENST00000535569.1_Missense_Mutation_p.S426F	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	435	Chitin-binding type-2.				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GTAGAAGCTGGACCGTTCCCG	0.602000											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	74	73					0	0	0.014410	0	0
GPR142	350383	broad.mit.edu	37	17	72368514	72368514	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:72368514G>A	ENST00000335666.4	+	4	1212	c.1164G>A	c.(1162-1164)cgG>cgA	p.R388R		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	388						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CTGTCCACCGGGACTGGAGGG	0.612000													42	125					0	0	0.014410	0	0
MYOM3	127294	broad.mit.edu	37	1	24417294	24417294	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:24417294C>T	ENST00000330966.7	-	12	1590	c.1428G>A	c.(1426-1428)agG>agA	p.R476R	MYOM3_ENST00000374434.3_Silent_p.R475R|MYOM3_ENST00000329601.7_Silent_p.R475R|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	475										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CACCTGTCTTCCTCCGGGCTG	0.582000													39	84					0	0	0.006999	0	0
SHANK1	50944	broad.mit.edu	37	19	51220099	51220099	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:51220099G>A	ENST00000293441.1	-	1	96	c.78C>T	c.(76-78)tcC>tcT	p.S26S	SHANK1_ENST00000391814.1_Silent_p.S26S|SHANK1_ENST00000359082.3_Silent_p.S26S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	26					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGGAGCTGTCGGACTCTGAGC	0.731000													3	9					0	0	0.000602	0	0
EXT1	2131	broad.mit.edu	37	8	118830695	118830695	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:118830695G>A	ENST00000378204.2	-	7	2417	c.1611C>T	c.(1609-1611)gtC>gtT	p.V537V		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	537					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CTTCAATGACGACGACAGGCA	0.532000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				44	162					0	0	0.014410	0	0
C9orf152	401546	broad.mit.edu	37	9	112969737	112969737	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:112969737G>A	ENST00000400613.4	-	1	732	c.123C>T	c.(121-123)ttC>ttT	p.F41F	C9orf152_ENST00000473442.1_5'UTR	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	41										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GGGCTCGCAGGAACTGGATGC	0.612000													57	32					0	0	0.014410	0	0
NAA16	79612	broad.mit.edu	37	13	41941750	41941750	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:41941750C>T	ENST00000379406.3	+	14	2039	c.1715C>T	c.(1714-1716)cCc>cTc	p.P572L	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	572					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TATGATAATCCCTTAACCAAT	0.323000													11	27					0	0	0.001855	0	0
MYO3B	140469	broad.mit.edu	37	2	171256824	171256824	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:171256824G>A	ENST00000334231.6	+	17	1945	c.1945_splice	c.e17+1	p.A649_splice	MYO3B_ENST00000409044.3_Splice_Site_p.A640_splice|MYO3B_ENST00000408978.4_Splice_Site_p.A640_splice|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	640	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTTGCAAAATGGTAATTATTT	0.388000													22	64					0	0	0.002780	0	0
KIF2B	84643	broad.mit.edu	37	17	51902066	51902066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:51902066G>A	ENST00000268919.4	+	1	1828	c.1672G>A	c.(1672-1674)Gga>Aga	p.G558R		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	558					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTATCCGATTGGACATGAGGC	0.383000													37	28					0	0	0.006230	0	0
PARVG	64098	broad.mit.edu	37	22	44579272	44579272	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:44579272G>A	ENST00000422871.1	+	3	487	c.63G>A	c.(61-63)gaG>gaA	p.E21E	PARVG_ENST00000415224.1_Silent_p.E21E|PARVG_ENST00000466375.2_Silent_p.E21E|PARVG_ENST00000444313.2_Silent_p.E21E|PARVG_ENST00000453888.3_3'UTR	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	21					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CCCCAGCGGAGGAGGAGCTCT	0.647000													19	8					0	0	0.012319	0	0
PBXIP1	57326	broad.mit.edu	37	1	154919211	154919211	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:154919211G>A	ENST00000368463.3	-	10	1010	c.939C>T	c.(937-939)ctC>ctT	p.L313L	PBXIP1_ENST00000539880.1_Silent_p.L140L|PBXIP1_ENST00000368465.1_Silent_p.L284L|PBXIP1_ENST00000542459.1_Silent_p.L158L	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	313					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAGCCCCCCGGAGCTGGGCAT	0.627000													15	49					0	0	0.002450	0	0
SPON1	10418	broad.mit.edu	37	11	14287200	14287200	+	RNA	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:14287200G>A	ENST00000310358.7	+	0	2926				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		aagacaagaaggagatcagag	0.463000													12	30					0	0	0.010729	0	0
LSR	51599	broad.mit.edu	37	19	35749940	35749940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:35749940G>A	ENST00000602122.1	+	3	1178	c.691G>A	c.(691-693)Gag>Aag	p.E231K	LSR_ENST00000360798.3_Missense_Mutation_p.E231K|LSR_ENST00000347609.4_Missense_Mutation_p.E194K|LSR_ENST00000427250.1_Intron|LSR_ENST00000354900.3_Missense_Mutation_p.E231K|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000361790.3_Missense_Mutation_p.E231K			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	231	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGGGAACAATGAGGCCTACGC	0.607000													48	38					0	0	0.014410	0	0
SLC17A3	10786	broad.mit.edu	37	6	25845740	25845740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:25845740G>A	ENST00000397060.4	-	12	1476	c.1367C>T	c.(1366-1368)cCt>cTt	p.P456L	SLC17A3_ENST00000361703.6_Missense_Mutation_p.P378L|SLC17A3_ENST00000360657.3_Missense_Mutation_p.P378L	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	378					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CCCAAACTCAGGGTCCTGGAG	0.403000													29	39					0	0	0.010818	0	0
TPTE	7179	broad.mit.edu	37	21	10916422	10916422	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr21:10916422G>A	ENST00000298232.7	-	19	1537	c.1170C>T	c.(1168-1170)ctC>ctT	p.L390L	TPTE_ENST00000415664.2_Intron|TPTE_ENST00000361285.4_Silent_p.L408L|TPTE_ENST00000342420.5_Silent_p.L370L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	408	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTCTTGGAGGGAGATTCCAGT	0.363000													17	113					0	0	0.007413	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113208441	113208441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:113208441C>T	ENST00000261965.3	-	8	1082	c.896G>A	c.(895-897)tGg>tAg	p.W299*	TUBGCP3_ENST00000375669.3_Nonsense_Mutation_p.W299*	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	299					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					ATTATGCAACCATCCCAACTC	0.438000													37	45					0	0	0.004878	0	0
SYT15	83849	broad.mit.edu	37	10	46969395	46969395	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:46969395G>A	ENST00000374325.3	-	2	218	c.66C>T	c.(64-66)atC>atT	p.I22I	SYT15_ENST00000374321.4_Silent_p.I22I|SYT15_ENST00000503753.1_Silent_p.I22I|SYT15_ENST00000374323.3_Intron	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	22						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						AGCTTGCCCCGATCAACAGCA	0.637000													8	16					0	0	0.003080	0	0
RIMBP2	23504	broad.mit.edu	37	12	130941179	130941179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:130941179C>T	ENST00000261655.4	-	4	332	c.169G>A	c.(169-171)Gac>Aac	p.D57N	RIMBP2_ENST00000536002.1_5'UTR|RIMBP2_ENST00000535703.1_5'UTR	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	57						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TTCTCCAGGTCCCGGGACAGC	0.632000													9	13					0	0	0.010729	0	0
MICALL1	85377	broad.mit.edu	37	22	38313723	38313723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:38313723C>T	ENST00000215957.6	+	4	473	c.347C>T	c.(346-348)tCg>tTg	p.S116L		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	116						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GCTGGTGTCTCGCCACCCAGA	0.587000													26	25					0	0	0.007291	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070139	141070139	+	RNA	SNP	C	C	T	rs143443709	by1000genomes	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:141070139C>T	ENST00000503395.1	+	0	1219																		p.L85F(2)									CGGGCAGGTCCTCAGGCCAGA	0.667000													4	50					0	0	0.000602	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370855	35370855	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:35370855C>T	ENST00000373347.1	-	3	398	c.130G>A	c.(130-132)Gag>Aag	p.E44K	DLGAP3_ENST00000495979.1_5'UTR|DLGAP3_ENST00000235180.4_Missense_Mutation_p.E44K			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	44					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.E44K(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				AAGCGGGGCTCGGTGGAGAAG	0.687000													11	20					0	0	0.013537	0	0
CDK18	5129	broad.mit.edu	37	1	205496942	205496942	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:205496942C>T	ENST00000360066.2	+	9	1051	c.750C>T	c.(748-750)ctC>ctT	p.L250L	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Silent_p.L280L|CDK18_ENST00000429964.2_Silent_p.L250L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	248	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TCCAGCTGCTCCGGGGCCTCG	0.632000													44	52					0	0	0.014410	0	0
CDCP1	64866	broad.mit.edu	37	3	45127545	45127545	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:45127545T>C	ENST00000296129.1	-	9	2230	c.2096A>G	c.(2095-2097)aAc>aGc	p.N699S		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	699						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GGGGCCCTTGTTTGTCTTCTT	0.453000													66	116					0	0	0.014410	0	0
EYA4	2070	broad.mit.edu	37	6	133827283	133827283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:133827283G>A	ENST00000367895.5	+	14	1695	c.1231G>A	c.(1231-1233)Gaa>Aaa	p.E411K	RP3-323P13.2_ENST00000451017.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.E411K|EYA4_ENST00000355167.3_Missense_Mutation_p.E411K|EYA4_ENST00000430974.2_Missense_Mutation_p.E363K|EYA4_ENST00000531901.1_Missense_Mutation_p.E417K|EYA4_ENST00000525849.1_Missense_Mutation_p.E388K|EYA4_ENST00000355286.6_Missense_Mutation_p.E388K|EYA4_ENST00000452339.2_Missense_Mutation_p.E357K	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	411					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.E411*(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCGCATGGAAGAAATGATTTT	0.338000													29	20					0	0	0.008361	0	0
TRIM45	80263	broad.mit.edu	37	1	117661263	117661263	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:117661263G>T	ENST00000256649.4	-	2	1141	c.615C>A	c.(613-615)ttC>ttA	p.F205L	TRIM45_ENST00000369464.3_Missense_Mutation_p.F205L|TRIM45_ENST00000369461.3_Missense_Mutation_p.F148L	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	205						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GCCGGTCACAGAACTCACAGA	0.562000													55	101					1.54886e-18	1.60987e-18	0.014410	1	0
SPHKAP	80309	broad.mit.edu	37	2	228882345	228882345	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:228882345C>T	ENST00000392056.3	-	7	3271	c.3225G>A	c.(3223-3225)tgG>tgA	p.W1075*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.W1075*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1075						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCAGCCGGCTCCACCTGTCGC	0.597000													42	38					0	0	0.013114	0	0
ATG16L2	89849	broad.mit.edu	37	11	72539461	72539461	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:72539461C>T	ENST00000534905.1	+	4	416	c.376C>T	c.(376-378)Cag>Tag	p.Q126*	ATG16L2_ENST00000321297.5_Silent_p.L510L			Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	260					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			CCCTGAGCCTCAGCCACGACC	0.617000													182	346					0	0	0.014410	0	0
LAMA3	3909	broad.mit.edu	37	18	21519301	21519301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr18:21519301C>T	ENST00000313654.9	+	68	9218	c.8977C>T	c.(8977-8979)Ccc>Tcc	p.P2993S	LAMA3_ENST00000399516.3_Missense_Mutation_p.P2937S|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.P1328S|LAMA3_ENST00000269217.6_Missense_Mutation_p.P1384S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2993	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGGGACATTCCCACCAGCCA	0.557000													82	64					0	0	0.014410	0	0
OR5D13	390142	broad.mit.edu	37	11	55541093	55541093	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:55541093C>T	ENST00000361760.1	+	1	180	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	60					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)				TCCATACAATCATGTGCTTTT	0.398000													17	90					0	0	0.007413	0	0
MIR524	574478	broad.mit.edu	37	19	54214303	54214303	+	RNA	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:54214303G>A	ENST00000385242.1	+	0	48					NR_030200.1																						TTGTCCAAAGGAAAAGAAGGC	0.433000													25	67					0	0	0.003330	0	0
KLHL3	26249	broad.mit.edu	37	5	137045464	137045464	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:137045464G>A	ENST00000508657.1	-	3	834	c.120C>T	c.(118-120)agC>agT	p.S40S	KLHL3_ENST00000309755.4_Silent_p.S72S|KLHL3_ENST00000394937.3_Silent_p.S72S	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	72						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		AGAAGTAGGGGCTGCAGGCTG	0.542000													29	97					0	0	0.007291	0	0
GABRG1	2565	broad.mit.edu	37	4	46066480	46066480	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:46066480G>A	ENST00000295452.4	-	5	770	c.603C>T	c.(601-603)tcC>tcT	p.S201S		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	201					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.S201S(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CCAGTGGACAGGAATGTTCAT	0.269000													59	68					0	0	0.014410	0	0
PAQR9	344838	broad.mit.edu	37	3	142681139	142681139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:142681139G>A	ENST00000340634.3	-	1	1039	c.1040C>T	c.(1039-1041)tCg>tTg	p.S347L		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	347						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CACAGTACCCGAGAAAGTGGG	0.567000													58	86					0	0	0.014410	0	0
EPHB6	2051	broad.mit.edu	37	7	142562271	142562271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:142562271C>T	ENST00000392957.2	+	7	1500	c.713C>T	c.(712-714)tCc>tTc	p.S238F	EPHB6_ENST00000442129.1_Missense_Mutation_p.S238F|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	238	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTGCTCCGATCCTTTGCTTCC	0.662000													81	123					0	0	0.014410	0	0
MED13L	23389	broad.mit.edu	37	12	116453037	116453037	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:116453037G>A	ENST00000281928.3	-	8	1258	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	351					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCCATCTTGGGAAACCAGGTG	0.448000													24	65					0	0	0.003330	0	0
LUZP2	338645	broad.mit.edu	37	11	25100135	25100135	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:25100135G>A	ENST00000533227.1	+	12	1001	c.714G>A	c.(712-714)gtG>gtA	p.V238V	LUZP2_ENST00000336930.6_Silent_p.V324V	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	324						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AATGTGAGGTGAAAAAAGCCC	0.338000													28	64					0	0	0.010818	0	0
SLC26A5	375611	broad.mit.edu	37	7	103029843	103029843	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:103029843T>C	ENST00000306312.3	-	13	1601	c.1340A>G	c.(1339-1341)aAc>aGc	p.N447S	SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393730.1_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393729.1_Missense_Mutation_p.N410S|SLC26A5_ENST00000393723.1_Intron|SLC26A5_ENST00000432958.2_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.N447S|SLC26A5_ENST00000393735.2_Missense_Mutation_p.N447S|SLC26A5_ENST00000339444.6_Missense_Mutation_p.N447S	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	447					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TCCCTTCAGGTTGACAATCAC	0.478000													28	38					0	0	0.006320	0	0
SYT2	127833	broad.mit.edu	37	1	202571092	202571092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:202571092C>T	ENST00000367267.1	-	6	919	c.727G>A	c.(727-729)Gtg>Atg	p.V243M	SYT2_ENST00000367268.4_Missense_Mutation_p.V243M	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	243	Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TTCATAGGCACCTTTACCTCT	0.547000													29	105					0	0	0.007291	0	0
C3P1	388503	broad.mit.edu	37	19	10157839	10157839	+	RNA	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:10157839C>T	ENST00000495140.1	+	0	1155																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GTGCCAGATTCCATCACCACG	0.537000													203	188					0	0	0.014410	0	0
LARP4	113251	broad.mit.edu	37	12	50848199	50848199	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:50848199C>T	ENST00000398473.2	+	10	1232	c.1121_splice	c.e10+1	p.R374_splice	LARP4_ENST00000518444.1_Splice_Site_p.R373_splice|LARP4_ENST00000522085.1_Splice_Site_p.R374_splice|LARP4_ENST00000429001.3_Splice_Site_p.R380_splice|LARP4_ENST00000347328.5_Splice_Site_p.R303_splice|LARP4_ENST00000518561.1_Splice_Site_p.R304_splice|LARP4_ENST00000293618.8_Splice_Site_p.R374_splice	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	374							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CCAAAAAAATCGGTAAGATAA	0.348000													10	24					0	0	0.008291	0	0
HDLBP	3069	broad.mit.edu	37	2	242189355	242189355	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:242189355G>A	ENST00000391975.1	-	12	1640	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	HDLBP_ENST00000427183.2_Silent_p.I438I|HDLBP_ENST00000310931.4_Silent_p.I471I|HDLBP_ENST00000391976.2_Silent_p.I471I|HDLBP_ENST00000476807.1_5'UTR	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	471	KH 5.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TGTCAGGAGGGATGCGCACGG	0.517000													35	54					0	0	0.006999	0	0
CSMD1	64478	broad.mit.edu	37	8	3081279	3081279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:3081279C>T	ENST00000520002.1	-	29	5014	c.4459G>A	c.(4459-4461)Gac>Aac	p.D1487N	CSMD1_ENST00000602723.1_Missense_Mutation_p.D1487N|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.D1486N|CSMD1_ENST00000539096.1_Missense_Mutation_p.D1486N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D1487N|CSMD1_ENST00000537824.1_Missense_Mutation_p.D1486N|CSMD1_ENST00000602557.1_Missense_Mutation_p.D1487N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1487	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGACAAAGTCCGGGTTCACT	0.428000													40	76					0	0	0.008740	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48848316	48848316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:48848316C>T	ENST00000394754.1	+	5	2360	c.2246C>T	c.(2245-2247)aCc>aTc	p.T749I	GTF2A1L_ENST00000430487.2_Missense_Mutation_p.T11I|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.T749I|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.T749I|GTF2A1L_ENST00000468326.1_3'UTR|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.T45I|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.T749I|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.T749I	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		749					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTCTGGGAAACCAAGGTTTTG	0.353000													22	18					0	0	0.014323	0	0
KIAA1257	57501	broad.mit.edu	37	3	128707654	128707654	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:128707654G>A	ENST00000265068.5	-	3	537	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	KIAA1257_ENST00000515659.1_Silent_p.L12L|KIAA1257_ENST00000511438.1_Silent_p.L124L|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	124										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TCGTCCGGCAGAAGGAAATAC	0.393000													26	38					0	0	0.004656	0	0
CNTN5	53942	broad.mit.edu	37	11	100061937	100061937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:100061937G>A	ENST00000524871.1	+	14	1950	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	CNTN5_ENST00000528682.1_Missense_Mutation_p.E554K|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.E554K|CNTN5_ENST00000527185.1_Missense_Mutation_p.E554K|CNTN5_ENST00000418526.2_Missense_Mutation_p.E480K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	554	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTGCCGAGGGGAAAACGTCTT	0.408000													17	26					0	0	0.006122	0	0
RTN3	10313	broad.mit.edu	37	11	63486450	63486450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:63486450C>T	ENST00000377819.5	+	3	630	c.476C>T	c.(475-477)cCa>cTa	p.P159L	RTN3_ENST00000356000.3_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.P140L|RTN3_ENST00000341307.2_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	159					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CCTTCTATTCCAGCCAGTTTC	0.438000													37	64					0	0	0.004878	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635671	141635671	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:141635671C>T	ENST00000546910.1	-	5	484	c.288G>A	c.(286-288)agG>agA	p.R96R	CLEC5A_ENST00000551012.2_Silent_p.R73R|CLEC5A_ENST00000438351.1_Silent_p.R73R|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000470595.1_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	96	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TGCAAAAGTCCCTGCTTTCAT	0.433000													45	65					0	0	0.013114	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133930691	133930691	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:133930691G>A	ENST00000298622.4	+	2	384	c.246G>A	c.(244-246)gaG>gaA	p.E82E		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3									p.E82D(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGCACGAGGAGAAGATGAAGG	0.592000													27	21					0	0	0.004656	0	0
FCRL5	83416	broad.mit.edu	37	1	157494247	157494247	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:157494247G>A	ENST00000361835.3	-	10	2218	c.2061C>T	c.(2059-2061)tcC>tcT	p.S687S	FCRL5_ENST00000368191.3_Silent_p.S602S|FCRL5_ENST00000356953.4_Silent_p.S687S|FCRL5_ENST00000368190.3_Silent_p.S687S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	687	Ig-like C2-type 7.		S -> C (in a breast cancer sample; somatic mutation).			integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACAGGATTGGGGAGGAGCCTC	0.582000													16	62					0	0	0.004990	0	0
HRNR	388697	broad.mit.edu	37	1	152191326	152191326	+	Missense_Mutation	SNP	C	C	T	rs149730442		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:152191326C>T	ENST00000368801.2	-	3	2854	c.2779G>A	c.(2779-2781)Ggc>Agc	p.G927S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	927					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGACTGGCCTGAGCCAGAC	0.607000													47	164					0	0	0.014410	0	0
RNF13	11342	broad.mit.edu	37	3	149629785	149629785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:149629785C>T	ENST00000344229.3	+	8	1223	c.521C>T	c.(520-522)cCa>cTa	p.P174L	RNF13_ENST00000361785.6_Missense_Mutation_p.P55L|RNF13_ENST00000392894.3_Missense_Mutation_p.P174L	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	174					protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATCTTAGTTCCAGAATTTAGT	0.318000													32	58					0	0	0.010818	0	0
MX2	4600	broad.mit.edu	37	21	42762624	42762624	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr21:42762624A>G	ENST00000330714.3	+	6	1049	c.865A>G	c.(865-867)Acc>Gcc	p.T289A	MX2_ENST00000543692.1_Intron|MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	289					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AGGGGACAGGACCATCGGTAA	0.607000													20	48					0	0	0.007413	0	0
SPAG17	200162	broad.mit.edu	37	1	118574476	118574476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:118574476C>T	ENST00000336338.5	-	25	3513	c.3448G>A	c.(3448-3450)Gat>Aat	p.D1150N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1150						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTTTCTAAATCAGGATCCTTA	0.318000													21	59					0	0	0.010504	0	0
LRP1B	53353	broad.mit.edu	37	2	141294269	141294269	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:141294269G>A	ENST00000389484.3	-	46	8494	c.7523C>T	c.(7522-7524)tCc>tTc	p.S2508F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2508					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTGCAGGAGGAATTTTTAGC	0.328000										TSP Lung(27;0.18)			5	24					0	0	0.000602	0	0
C1orf127	148345	broad.mit.edu	37	1	11009732	11009732	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:11009732C>T	ENST00000377004.4	-	11	1238	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	C1orf127_ENST00000377008.4_Silent_p.Q246Q	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	264										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		AAAGCCATTCCTGGGCAGCTG	0.642000													7	12					0	0	0.003080	0	0
PMFBP1	83449	broad.mit.edu	37	16	72164153	72164153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:72164153C>T	ENST00000537465.1	-	12	1914	c.1756G>A	c.(1756-1758)Gat>Aat	p.D586N	PMFBP1_ENST00000355636.6_Missense_Mutation_p.D436N|PMFBP1_ENST00000237353.10_Missense_Mutation_p.D581N			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	586										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				ATTTTCATATCCTGCTCAGCC	0.473000													48	20					0	0	0.014410	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54919339	54919339	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:54919339C>T	ENST00000474759.1	+	22	1992	c.1944C>T	c.(1942-1944)tcC>tcT	p.S648S	CACNA2D3_ENST00000490478.1_Silent_p.S554S|CACNA2D3_ENST00000415676.2_Silent_p.S648S|CACNA2D3_ENST00000288197.5_Silent_p.S648S|CACNA2D3-AS1_ENST00000471265.1_RNA	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	648						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCGATGTGTCCTTGGCAGATG	0.483000													28	66					0	0	0.009535	0	0
MYO18B	84700	broad.mit.edu	37	22	26299753	26299753	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:26299753G>A	ENST00000335473.7	+	31	5353	c.5103G>A	c.(5101-5103)caG>caA	p.Q1701Q	MYO18B_ENST00000407587.2_Silent_p.Q1702Q|MYO18B_ENST00000536101.1_Silent_p.Q1701Q|MYO18B_ENST00000536204.1_3'UTR	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1701	Gln-rich.|Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTGAGCAACAGAAAATCCAGA	0.552000													6	1					0	0	0.003080	0	0
OR51S1	119692	broad.mit.edu	37	11	4869999	4869999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:4869999C>T	ENST00000322101.2	-	1	515	c.440G>A	c.(439-441)gGt>gAt	p.G147D	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G147A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTAATTACACCATTGGTGAG	0.557000													59	122					0	0	0.014410	0	0
OR10T2	128360	broad.mit.edu	37	1	158368849	158368849	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:158368849G>A	ENST00000334438.1	-	1	407	c.408C>T	c.(406-408)atC>atT	p.I136I		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TTTTGTTTATGATGAGTGTGT	0.453000													13	81					0	0	0.006122	0	0
COL9A1	1297	broad.mit.edu	37	6	70944589	70944589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:70944589G>A	ENST00000357250.6	-	34	2325	c.2167C>T	c.(2167-2169)Cct>Tct	p.P723S	COL9A1_ENST00000370499.4_Missense_Mutation_p.P480S|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000320755.7_Missense_Mutation_p.P480S|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	723	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCCACTCCAGGAAGCCCCCGA	0.612000													27	10					0	0	0.007291	0	0
PLB1	151056	broad.mit.edu	37	2	28827570	28827570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:28827570G>A	ENST00000422425.2	+	40	2916	c.2872G>A	c.(2872-2874)Gac>Aac	p.D958N	PLB1_ENST00000541605.1_Intron|PLB1_ENST00000327757.5_Missense_Mutation_p.D969N	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	969	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CACGCAGGAGGACTTCTCTGT	0.617000													14	35					0	0	0.002450	0	0
HARS2	23438	broad.mit.edu	37	5	140073847	140073847	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:140073847C>T	ENST00000230771.3	+	4	604	c.381C>T	c.(379-381)tcC>tcT	p.S127S	HARS2_ENST00000437649.2_Intron|HARS2_ENST00000502303.1_3'UTR|HARS2_ENST00000448069.2_Intron|HARS2_ENST00000432671.2_Intron|HARS2_ENST00000508522.1_Silent_p.S102S|HARS2_ENST00000435019.2_Silent_p.S87S	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	127					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGTTGTCCCTCCGCTATG	0.483000													58	45					0	0	0.014410	0	0
CDH18	1016	broad.mit.edu	37	5	19520765	19520765	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:19520765C>T	ENST00000507958.1	-	12	2503		c.e12+1		CDH18_ENST00000511273.1_Splice_Site|CDH18_ENST00000274170.4_Splice_Site|CDH18_ENST00000506372.1_Splice_Site|CDH18_ENST00000382275.1_Splice_Site|CDH18_ENST00000502796.1_Splice_Site			Q13634	CAD18_HUMAN	cadherin 18, type 2						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AATTAACTTACCTGGCCAGGC	0.383000													14	15					0	0	0.001855	0	0
CD1E	913	broad.mit.edu	37	1	158325195	158325195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:158325195C>T	ENST00000444681.2	+	2	457	c.164C>T	c.(163-165)tCc>tTc	p.S55F	CD1E_ENST00000368161.3_Missense_Mutation_p.S154F|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.S154F|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.S154F|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.S152F|CD1E_ENST00000368167.3_Missense_Mutation_p.S154F|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368164.3_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	154					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CAAGGAATTTCCTGGGAGCCA	0.448000													21	100					0	0	0.008871	0	0
MYO3A	53904	broad.mit.edu	37	10	26414347	26414347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:26414347C>T	ENST00000265944.5	+	19	2090	c.1924C>T	c.(1924-1926)Cgg>Tgg	p.R642W	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	642	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.R642W(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCTTTGCATTCGGGCAGATGA	0.418000													17	7					0	0	0.004007	0	0
FAM151A	338094	broad.mit.edu	37	1	55075158	55075158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:55075158G>A	ENST00000302250.2	-	8	1701	c.1541C>T	c.(1540-1542)gCc>gTc	p.A514V	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000371316.3_Intron|ACOT11_ENST00000343744.2_3'UTR|FAM151A_ENST00000371304.2_Missense_Mutation_p.A327V	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	514						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CAGCAGCATGGCCTGCATCTG	0.642000													44	111					0	0	0.013114	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920178	155920178	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:155920178G>A	ENST00000368316.1	-	25	3185	c.2715C>T	c.(2713-2715)ccC>ccT	p.P905P	ARHGEF2_ENST00000368315.3_Silent_p.P934P|ARHGEF2_ENST00000361247.4_Silent_p.P933P|ARHGEF2_ENST00000313695.7_Silent_p.P905P|ARHGEF2_ENST00000313667.4_Silent_p.P932P			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	933					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCCGCTCTTCGGGGCTCCCCA	0.627000													55	36					0	0	0.014410	0	0
HSD17B12	51144	broad.mit.edu	37	11	43861552	43861552	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:43861552T>C	ENST00000278353.4	+	9	741	c.622T>C	c.(622-624)Ttt>Ctt	p.F208L	RP11-613D13.5_ENST00000530450.1_RNA	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	208					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						CTCCCAGACTTTTGTAGATTT	0.408000													35	58					0	0	0.004289	0	0
CHD2	1106	broad.mit.edu	37	15	93543829	93543829	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:93543829C>T	ENST00000394196.4	+	32	5164	c.4096C>T	c.(4096-4098)Cct>Tct	p.P1366S	CHD2_ENST00000557381.1_Missense_Mutation_p.P1366S	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1366					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GCTTTCATCTCCTAGGCATTC	0.423000													34	59					0	0	0.006230	0	0
EPHX4	253152	broad.mit.edu	37	1	92495805	92495805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:92495805G>A	ENST00000370383.4	+	1	267	c.169G>A	c.(169-171)Gag>Aag	p.E57K		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	57						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						GCCCGCCCGGGAGCACCCTCC	0.711000													7	17					0	0	0.001984	0	0
SCN11A	11280	broad.mit.edu	37	3	38991749	38991749	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:38991749C>T	ENST00000450244.1	-	1	303	c.105G>A	c.(103-105)aaG>aaA	p.K35K	SCN11A_ENST00000444237.2_Silent_p.K35K|SCN11A_ENST00000456224.3_Silent_p.K35K|SCN11A_ENST00000302328.3_Silent_p.K35K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	35					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCTTTTTCTCCTTTTGGATGG	0.512000													70	122					0	0	0.014410	0	0
ARHGDIA	396	broad.mit.edu	37	17	79827107	79827107	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:79827107G>A	ENST00000269321.7	-	5	492	c.357C>T	c.(355-357)aaC>aaT	p.N119N	ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000580685.1_Silent_p.N119N|ARHGDIA_ENST00000400721.4_Silent_p.N119N|ARHGDIA_ENST00000541078.2_Silent_p.N119N|ARHGDIA_ENST00000584461.1_Silent_p.N119N	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	119					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CTATCTCTCGGTTAACCTGCA	0.642000													25	36					0	0	0.003330	0	0
PKD1	5310	broad.mit.edu	37	16	2159102	2159102	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:2159102C>T	ENST00000262304.4	-	15	6274	c.6066G>A	c.(6064-6066)tcG>tcA	p.S2022S	PKD1_ENST00000423118.1_Silent_p.S2022S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2022	PKD 16.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGTCGCGGCCCGACAGGATGA	0.682000													13	55					0	0	0.002450	0	0
TREML2	79865	broad.mit.edu	37	6	41165891	41165891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:41165891C>T	ENST00000483722.1	-	2	517	c.332G>A	c.(331-333)gGg>gAg	p.G111E		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	111	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTACAGGATCCCAGAGGTGTT	0.622000													19	32					0	0	0.006122	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926559	130926559	+	Silent	SNP	G	G	A	rs140257980	byFrequency	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:130926559G>A	ENST00000261655.4	-	8	1450	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	RIMBP2_ENST00000536002.1_Silent_p.F337F|RIMBP2_ENST00000535703.1_Silent_p.F337F	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	429	Fibronectin type-III 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGACGATGTCGAACTCCTCCT	0.562000													15	47					0	0	0.004990	0	0
GIPC1	10755	broad.mit.edu	37	19	14593661	14593661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:14593661G>A	ENST00000393033.4	-	4	397	c.128C>T	c.(127-129)cCc>cTc	p.P43L	GIPC1_ENST00000393029.3_Intron|GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000586027.1_Missense_Mutation_p.P43L|GIPC1_ENST00000591349.1_Intron|GIPC1_ENST00000345425.2_Missense_Mutation_p.P43L	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	43					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GCCCATTTGGGGGCCCCCCGA	0.726000													4	7					0	0	0.001984	0	0
VSIG10	54621	broad.mit.edu	37	12	118533381	118533381	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:118533381G>A	ENST00000359236.5	-	2	594	c.318C>T	c.(316-318)atC>atT	p.I106I	VSIG10_ENST00000536905.1_5'UTR	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	106	Ig-like C2-type 1.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TCACATTCAGGATCTCCTGGC	0.602000													24	74					0	0	0.004656	0	0
PCLO	27445	broad.mit.edu	37	7	82785457	82785457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:82785457G>A	ENST00000423517.2	-	2	837	c.500C>T	c.(499-501)tCc>tTc	p.S167F	PCLO_ENST00000333891.8_Missense_Mutation_p.S167F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	167					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TACAACAGAGGAAACAGCACT	0.403000													32	50					0	0	0.009535	0	0
NUBP2	10101	broad.mit.edu	37	16	1837746	1837746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:1837746C>T	ENST00000262302.9	+	4	523	c.403C>T	c.(403-405)Ccg>Tcg	p.P135S	NUBP2_ENST00000568706.1_5'UTR|NUBP2_ENST00000565134.1_Missense_Mutation_p.P135S|NUBP2_ENST00000543305.1_5'UTR|NUBP2_ENST00000565987.1_Missense_Mutation_p.P75S	NM_012225.2	NP_036357.1	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2	135						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GGACACGCCCCCGGGGACCTC	0.682000													50	50					0	0	0.014410	0	0
ANO2	57101	broad.mit.edu	37	12	5672545	5672545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:5672545G>A	ENST00000356134.5	-	27	2991	c.2920C>T	c.(2920-2922)Cgg>Tgg	p.R974W	ANO2_ENST00000546188.1_Missense_Mutation_p.R974W|ANO2_ENST00000327087.8_Missense_Mutation_p.R973W	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	978						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTGGCTGCCCGGCTCCTGCTT	0.572000													4	4					0	0	0.009096	0	0
ACTN3	89	broad.mit.edu	37	11	66322819	66322819	+	RNA	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:66322819C>T	ENST00000502692.1	+	0	944				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TGGACATCCCCAAGATGTTGG	0.557000													37	76					0	0	0.006230	0	0
CAND2	23066	broad.mit.edu	37	3	12858878	12858878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:12858878C>T	ENST00000456430.2	+	10	2488	c.2447C>T	c.(2446-2448)cCc>cTc	p.P816L	CAND2_ENST00000295989.5_Missense_Mutation_p.P723L	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	816					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCTGCCTGTCCCCAAGAGGCG	0.647000													40	79					0	0	0.008740	0	0
SLIT3	6586	broad.mit.edu	37	5	168620509	168620509	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:168620509G>A	ENST00000519560.1	-	4	806	c.387C>T	c.(385-387)ttC>ttT	p.F129F	SLIT3_ENST00000521130.1_5'UTR|SLIT3_ENST00000404867.3_Silent_p.F129F|SLIT3_ENST00000332966.8_Silent_p.F129F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	129					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGTGCTCTGGAAAAGCAATT	0.493000													51	55					0	0	0.014410	0	0
GSN	2934	broad.mit.edu	37	9	124094753	124094753	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:124094753C>G	ENST00000373823.3	+	25	2973	c.2068C>G	c.(2068-2070)Cgg>Ggg	p.R690G	GSN_ENST00000373806.1_Missense_Mutation_p.R166G|GSN_ENST00000373808.2_Missense_Mutation_p.R690G|GSN_ENST00000412819.1_Missense_Mutation_p.R690G|GSN_ENST00000449733.1_Missense_Mutation_p.R690G|GSN_ENST00000545652.1_Missense_Mutation_p.R698G|GSN_ENST00000436847.1_Missense_Mutation_p.R701G|GSN_ENST00000341272.2_Missense_Mutation_p.R690G|GSN_ENST00000394353.2_Missense_Mutation_p.R701G|GSN_ENST00000373818.4_Missense_Mutation_p.R741G			P06396	GELS_HUMAN	gelsolin	741	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TCGGGATCGGCGGACGCCCAT	0.572000											OREG0019445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	29					0	0	0.007291	0	0
A1CF	29974	broad.mit.edu	37	10	52603813	52603813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:52603813C>T	ENST00000395489.2	-	6	544	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	A1CF_ENST00000373995.3_Missense_Mutation_p.E65K|A1CF_ENST00000373993.1_Missense_Mutation_p.E57K|A1CF_ENST00000373997.3_Missense_Mutation_p.E57K|A1CF_ENST00000374001.1_Missense_Mutation_p.E57K|A1CF_ENST00000282641.2_Missense_Mutation_p.E57K|A1CF_ENST00000395495.1_Missense_Mutation_p.E57K	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	57					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ATAAAAATTTCACAGCCCCTT	0.428000													46	39					0	0	0.010771	0	0
SEMA3D	223117	broad.mit.edu	37	7	84751159	84751159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:84751159G>A	ENST00000284136.6	-	1	92	c.49C>T	c.(49-51)Cac>Tac	p.H17Y	SEMA3D_ENST00000444867.1_Missense_Mutation_p.H17Y	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	17					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GGAAAAAGGTGAAAATCTTGG	0.343000													12	39					0	0	0.001855	0	0
LILRA2	11027	broad.mit.edu	37	19	55086387	55086387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:55086387C>T	ENST00000251377.3	+	5	675	c.542C>T	c.(541-543)tCc>tTc	p.S181F	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S169F|LILRA2_ENST00000391738.3_Missense_Mutation_p.S181F|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S181F					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GCCATCTTCTCCGTGGGCCCC	0.567000													72	76					0	0	0.014410	0	0
SGSM1	129049	broad.mit.edu	37	22	25251579	25251579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:25251579G>A	ENST00000400358.4	+	8	790	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	SGSM1_ENST00000400359.4_Missense_Mutation_p.V245M	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	245						Golgi apparatus	Rab GTPase activator activity	p.V245M(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CCGCGACTACGTGGAGTCCCT	0.562000													14	12					0	0	0.002450	0	0
XKRX	402415	broad.mit.edu	37	X	100169882	100169882	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:100169882C>T	ENST00000328526.5	-	3	1399	c.834G>A	c.(832-834)ttG>ttA	p.L278L	XKRX_ENST00000372956.2_Silent_p.L265L|XKRX_ENST00000468904.1_3'UTR	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	265						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CCTTCAATTTCAAAGTGGCTG	0.512000													53	18					0	0	0.014410	0	0
CNGA1	1259	broad.mit.edu	37	4	47953412	47953412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:47953412G>A	ENST00000402813.3	-	4	543	c.401C>T	c.(400-402)tCc>tTc	p.S134F	CNGA1_ENST00000420489.2_Missense_Mutation_p.S65F|CNGA1_ENST00000514170.1_Missense_Mutation_p.S65F|CNGA1_ENST00000358519.4_Missense_Mutation_p.S65F|CNGA1_ENST00000544810.1_Missense_Mutation_p.S65F			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	65					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						ATAACTAAAGGAACCCCTTGC	0.443000													21	41					0	0	0.014323	0	0
MCF2L2	23101	broad.mit.edu	37	3	183097194	183097194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:183097194G>A	ENST00000328913.3	-	3	463	c.166C>T	c.(166-168)Cga>Tga	p.R56*	MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.R56*|MCF2L2_ENST00000414362.2_Nonsense_Mutation_p.R56*|MCF2L2_ENST00000447025.2_Nonsense_Mutation_p.R56*	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	56	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.R56*(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCCTCCCCTCGGCCTCCTGCA	0.498000													17	24					0	0	0.004990	0	0
IFIH1	64135	broad.mit.edu	37	2	163133297	163133297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:163133297G>A	ENST00000263642.2	-	11	2599	c.2204C>T	c.(2203-2205)tCc>tTc	p.S735F		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	735	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						AATCCACTGGGAAAGCGCATA	0.413000													43	115					0	0	0.008740	0	0
PTPRA	5786	broad.mit.edu	37	20	3002778	3002778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:3002778C>T	ENST00000216877.6	+	14	1613	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S	PTPRA_ENST00000318266.5_Missense_Mutation_p.P405S|PTPRA_ENST00000380393.3_Missense_Mutation_p.P414S|PTPRA_ENST00000425918.2_Missense_Mutation_p.P425S|PTPRA_ENST00000356147.3_Missense_Mutation_p.P405S|PTPRA_ENST00000358719.4_Missense_Mutation_p.P270S|PTPRA_ENST00000399903.2_Missense_Mutation_p.P414S	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	414	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTTTGGGGTGCCTTTTACCCC	0.562000													21	132					0	0	0.010504	0	0
TMEM214	54867	broad.mit.edu	37	2	27263326	27263326	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:27263326C>T	ENST00000238788.9	+	16	1967	c.1905C>T	c.(1903-1905)gcC>gcT	p.A635A	TMEM214_ENST00000404032.3_Silent_p.A590A	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	635						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGCTTGAGGCCCTGGCCTGGG	0.637000													45	31					0	0	0.009718	0	0
SPINT2	10653	broad.mit.edu	37	19	38779791	38779791	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:38779791G>A	ENST00000301244.7	+	4	786	c.351G>A	c.(349-351)caG>caA	p.Q117Q	SPINT2_ENST00000454580.3_Silent_p.Q60Q|SPINT2_ENST00000587090.1_Silent_p.Q67Q	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	117					cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCAGAAGGCAGGATTCTGAAG	0.557000													23	70					0	0	0.003954	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715618	68715618	+	Missense_Mutation	SNP	C	C	T	rs34291091		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:68715618C>T	ENST00000325631.5	+	2	480	c.406C>T	c.(406-408)Ccc>Tcc	p.P136S	MARVELD2_ENST00000413223.2_Missense_Mutation_p.P136S	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	136					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CTGCAAAGATCCCTACGGAGG	0.542000													9	39					0	0	0.004482	0	0
SYT1	6857	broad.mit.edu	37	12	79693241	79693241	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:79693241C>T	ENST00000261205.4	+	8	1377	c.720C>T	c.(718-720)atC>atT	p.I240I	SYT1_ENST00000457153.2_Silent_p.I237I|SYT1_ENST00000393240.3_Silent_p.I240I|SYT1_ENST00000552744.1_Silent_p.I240I	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	240	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AGCATGACATCATTGGAGAAT	0.413000													37	55					0	0	0.004289	0	0
TSC22D2	9819	broad.mit.edu	37	3	150127274	150127274	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:150127274C>T	ENST00000361875.2	+	1	1153	c.137C>T	c.(136-138)tCc>tTc	p.S46F	TSC22D2_ENST00000361136.2_Missense_Mutation_p.S46F	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	46							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GACGTCTCCTCCGAGATTTTC	0.607000													11	20					0	0	0.010729	0	0
PDILT	204474	broad.mit.edu	37	16	20381012	20381012	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:20381012C>T	ENST00000302451.4	-	8	1167		c.e8-1			NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed						cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGAAAAGGATCTGCCAAAGAA	0.488000													53	52					0	0	0.014410	0	0
CD2	914	broad.mit.edu	37	1	117311313	117311313	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:117311313C>T	ENST00000369478.3	+	5	1072	c.964C>T	c.(964-966)Cag>Tag	p.Q322*		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	322	Pro-rich.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	ACAAGTTCACCAGCAGAAAGG	0.577000													82	108					0	0	0.014410	0	0
OR4N5	390437	broad.mit.edu	37	14	20612149	20612149	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr14:20612149C>T	ENST00000333629.1	+	1	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGTGGACTTCCTCTCTGAGA	0.498000													94	60					0	0	0.014410	0	0
EOMES	8320	broad.mit.edu	37	3	27759018	27759018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:27759018G>A	ENST00000295743.4	-	6	1807	c.1604C>T	c.(1603-1605)tCc>tTc	p.S535F	EOMES_ENST00000449599.1_Missense_Mutation_p.S554F|EOMES_ENST00000537516.1_Missense_Mutation_p.S259F			O95936	EOMES_HUMAN	eomesodermin	535					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AGATTCATAGGAACTGATGTC	0.527000													65	111					0	0	0.014410	0	0
JAM2	58494	broad.mit.edu	37	21	27062217	27062217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr21:27062217C>T	ENST00000480456.1	+	3	723	c.173C>T	c.(172-174)tCc>tTc	p.S58F	JAM2_ENST00000312957.5_Missense_Mutation_p.S58F|JAM2_ENST00000425221.2_Intron|JAM2_ENST00000400532.1_Missense_Mutation_p.S58F	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	58	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AAGACTGTTTCCTCCAGATTA	0.398000													117	112					0	0	0.014410	0	0
ATP7B	540	broad.mit.edu	37	13	52548143	52548143	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:52548143G>A	ENST00000242839.4	-	2	1369	c.1213C>T	c.(1213-1215)Ccc>Tcc	p.P405S	ATP7B_ENST00000344297.5_Missense_Mutation_p.P405S|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.P405S|ATP7B_ENST00000400366.3_Missense_Mutation_p.P294S|ATP7B_ENST00000400370.3_Missense_Mutation_p.P405S|ATP7B_ENST00000418097.2_Missense_Mutation_p.P405S|ATP7B_ENST00000542656.1_Missense_Mutation_p.P373S	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	405	HMA 4.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ATTACAGAGGGATTATAAAGA	0.473000									Wilson disease				37	78					0	0	0.003755	0	0
RRP9	9136	broad.mit.edu	37	3	51967584	51967584	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:51967584G>A	ENST00000232888.6	-	15	1439	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	456					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding	p.R456R(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		ACAGAATTCCGAGCCTCTTTG	0.572000													38	46					0	0	0.006230	0	0
NEU4	129807	broad.mit.edu	37	2	242758340	242758340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:242758340G>A	ENST00000391969.2	+	5	2132	c.1421G>A	c.(1420-1422)gGg>gAg	p.G474E	NEU4_ENST00000405370.1_Missense_Mutation_p.G474E|NEU4_ENST00000404257.1_Missense_Mutation_p.G486E|NEU4_ENST00000407683.1_Missense_Mutation_p.G474E|NEU4_ENST00000325935.6_Missense_Mutation_p.G487E	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	474						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CCCAACCTTGGGGACAAGCCT	0.647000													15	13					0	0	0.004990	0	0
MYO16	23026	broad.mit.edu	37	13	109535464	109535464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:109535464C>T	ENST00000356711.2	+	13	1543	c.1417C>T	c.(1417-1419)Ctc>Ttc	p.L473F	MYO16_ENST00000357550.2_Missense_Mutation_p.L473F|MYO16_ENST00000251041.5_Missense_Mutation_p.L473F	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	473	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCCTCCTCACCTCTTCTCCTG	0.562000													80	130					0	0	0.014410	0	0
MAPK6	5597	broad.mit.edu	37	15	52356175	52356175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:52356175C>T	ENST00000261845.5	+	6	1951	c.1144C>T	c.(1144-1146)Cca>Tca	p.P382S	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	382					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TCAGCTTGATCCAAGAGCTCT	0.398000													23	48					0	0	0.014323	0	0
COL21A1	81578	broad.mit.edu	37	6	56029286	56029286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:56029286C>T	ENST00000244728.5	-	9	1703	c.1306G>A	c.(1306-1308)Gat>Aat	p.D436N	COL21A1_ENST00000535941.1_Missense_Mutation_p.D436N|COL21A1_ENST00000370819.1_Missense_Mutation_p.D433N	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	436					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAACCTACATCACTGGGACCA	0.403000													3	1					0	0	0.009096	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69093715	69093715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:69093715C>T	ENST00000332644.5	-	10	1326	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	389	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CCACATCCATCACCCCAGCTT	0.383000													21	38					0	0	0.008871	0	0
SCEL	8796	broad.mit.edu	37	13	78176802	78176802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:78176802G>A	ENST00000535157.1	+	16	1095	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	SCEL_ENST00000377246.3_Missense_Mutation_p.E311K|SCEL_ENST00000349847.3_Missense_Mutation_p.E331K|SCEL_ENST00000469982.1_Intron|SCEL-AS1_ENST00000456280.2_RNA|SCEL-AS1_ENST00000457528.2_RNA	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	331	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ACAAAATCTCGAATCTGTTGC	0.338000													57	104					0	0	0.014410	0	0
CMYA5	202333	broad.mit.edu	37	5	79025595	79025595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:79025595C>T	ENST00000446378.2	+	2	1038	c.1007C>T	c.(1006-1008)tCt>tTt	p.S336F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	336						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATGCCACATCTGCATTGGAG	0.453000													16	37					0	0	0.003163	0	0
SLC7A6	9057	broad.mit.edu	37	16	68325482	68325482	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:68325482G>A	ENST00000566454.1	+	8	1209	c.940G>A	c.(940-942)Ggc>Agc	p.G314S	SLC7A6_ENST00000219343.6_Missense_Mutation_p.G314S	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	314					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CCAGACGTTTGGCATGTTCAG	0.507000													85	43					0	0	0.014410	0	0
TOX	9760	broad.mit.edu	37	8	59852082	59852082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:59852082C>T	ENST00000361421.1	-	3	410	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	64						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TCTTCACTTTCCAGGCTTGGA	0.443000													31	64					0	0	0.013726	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756668	94756668	+	Missense_Mutation	SNP	C	C	T	rs143859072	byFrequency	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr14:94756668C>T	ENST00000554723.1	-	2	801	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	SERPINA10_ENST00000554173.1_Missense_Mutation_p.R88Q|SERPINA10_ENST00000261994.4_Missense_Mutation_p.R88Q|SERPINA10_ENST00000393096.1_Missense_Mutation_p.R88Q			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	88					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.R88L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGAGATCTTTCGCAGCAGGCT	0.572000													12	41					0	0	0.013537	0	0
KCNH8	131096	broad.mit.edu	37	3	19574921	19574921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:19574921G>A	ENST00000328405.2	+	16	2920	c.2654G>A	c.(2653-2655)gGt>gAt	p.G885D		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	885						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCTCAGTTGGGTAAAGACATG	0.448000													49	66					0	0	0.014410	0	0
ASL	435	broad.mit.edu	37	7	65551585	65551585	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:65551585C>T	ENST00000304874.9	+	7	562	c.460C>T	c.(460-462)Ctc>Ttc	p.L154F	ASL_ENST00000380839.4_Missense_Mutation_p.L154F|ASL_ENST00000395331.3_Missense_Mutation_p.L154F|ASL_ENST00000395332.3_Missense_Mutation_p.L154F	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	154					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	ACGTGATGTTCTCTTCCCGGG	0.637000													21	37					0	0	0.003330	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146030179	146030179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:146030179C>T	ENST00000394413.3	-	5	1126	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	PPP2R2B_ENST00000336640.6_Missense_Mutation_p.E189K|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.E186K|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.E175K|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.E186K|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.E186K|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.E252K|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.E175K|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.E192K|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.E244K			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	186					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTAGGTTTCATAGTCGCTG	0.438000													8	43					0	0	0.008291	0	0
BAALC	79870	broad.mit.edu	37	8	104240299	104240299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:104240299G>A	ENST00000309982.5	+	3	598	c.410G>A	c.(409-411)cGa>cAa	p.R137Q	RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000438105.2_3'UTR|BAALC_ENST00000297574.6_Missense_Mutation_p.R172Q|BAALC_ENST00000523754.1_3'UTR|RP11-318M2.2_ENST00000523614.2_RNA	NM_024812.2	NP_079088.1	Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	172						centrosome|membrane|nucleus				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			GACAGAAGTCGAAGAATCACA	0.438000													23	36					0	0	0.003330	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651402	1651402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:1651402C>T	ENST00000399676.2	+	1	370	c.332C>T	c.(331-333)tCc>tTc	p.S111F		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	111	8 X 4 AA repeats of C-C-X-P.			Missing (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCTGTGGCTCCTGTGGGGGG	0.697000													37	75					0	0	0.004289	0	0
AES	166	broad.mit.edu	37	19	3061173	3061173	+	Missense_Mutation	SNP	T	T	G	rs1126519		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:3061173T>G	ENST00000221561.8	-	2	490	c.311A>C	c.(310-312)cAa>cCa	p.Q104P	AES_ENST00000586839.1_5'UTR|AES_ENST00000592330.1_5'UTR|AES_ENST00000327141.4_Missense_Mutation_p.Q37P	NM_198969.1	NP_945320.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	37	Gln-rich (Q domain).				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTACTGAGCTTGCAGTAGCTG	0.607000													17	142					0	0	0.007413	0	0
DPPA4	55211	broad.mit.edu	37	3	109049623	109049623	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:109049623T>A	ENST00000335658.6	-	5	481	c.427A>T	c.(427-429)Aaa>Taa	p.K143*	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	143						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGCAATGATTTCCGGATTTTG	0.393000													44	68					0	0	0.014410	0	0
MYO1C	4641	broad.mit.edu	37	17	1373566	1373566	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:1373566T>C	ENST00000359786.5	-	24	2753	c.2429A>G	c.(2428-2430)gAc>gGc	p.D810G	MYO1C_ENST00000438665.2_Missense_Mutation_p.D791G|MYO1C_ENST00000575158.1_Missense_Mutation_p.D775G|MYO1C_ENST00000361007.2_Missense_Mutation_p.D775G|MYO1C_ENST00000545534.2_Missense_Mutation_p.D786G	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	810					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)		GCGCACATGGTCCAGGAAGAA	0.682000													8	2					0	0	0.003080	0	0
DPYD	1806	broad.mit.edu	37	1	97547948	97547948	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:97547948C>T	ENST00000370192.3	-	22	2945	c.2845G>A	c.(2845-2847)Gat>Aat	p.D949N		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	949	4Fe-4S ferredoxin-type 2.				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATTTCTTCATCAATCATAGCC	0.393000													104	86					0	0	0.014410	0	0
SPERT	220082	broad.mit.edu	37	13	46287914	46287914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:46287914G>A	ENST00000378966.3	+	2	1062	c.646G>A	c.(646-648)Gag>Aag	p.E216K	SPERT_ENST00000310521.1_Missense_Mutation_p.E252K			Q8NA61	SPERT_HUMAN	spermatid associated	252						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GCTCCTCCGGGAGGAGAATCG	0.682000													8	12					0	0	0.003080	0	0
LMX1A	4009	broad.mit.edu	37	1	165175244	165175244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:165175244C>T	ENST00000342310.3	-	8	1227	c.845G>A	c.(844-846)gGg>gAg	p.G282E	LMX1A_ENST00000367893.4_Missense_Mutation_p.G282E|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_Missense_Mutation_p.G282E	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	282						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TCCTTCCATCCCAGCACTCCC	0.567000													24	81					0	0	0.003330	0	0
KCNJ6	3763	broad.mit.edu	37	21	38997535	38997535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr21:38997535C>T	ENST00000400482.3	-	4	1787	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	KCNJ6_ENST00000288309.6_Missense_Mutation_p.E400K	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	400					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TTCTTTTCTTCCTCTTCAGTC	0.498000													35	123					0	0	0.003755	0	0
EPHA7	2045	broad.mit.edu	37	6	93964398	93964398	+	Silent	SNP	T	T	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:93964398T>A	ENST00000369303.4	-	14	2683	c.2499A>T	c.(2497-2499)ggA>ggT	p.G833G		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	833	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AAGGTCTTTCTCCATAAGACA	0.398000													30	9					0	0	0.012213	0	0
UNC5C	8633	broad.mit.edu	37	4	96124094	96124094	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:96124094C>T	ENST00000453304.1	-	12	2272	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	642					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GTGAAGTTTTCCTCCCCGACC	0.602000													25	50					0	0	0.002780	0	0
DNAH9	1770	broad.mit.edu	37	17	11603201	11603201	+	Splice_Site	SNP	G	G	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:11603201G>T	ENST00000262442.3	+	23	5093		c.e23+1		DNAH9_ENST00000454412.2_Splice_Site	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGCGGGCAGGTAACACAGTA	0.507000													21	13					1.87028e-06	1.91462e-06	0.012319	1	0
CACNA1H	8912	broad.mit.edu	37	16	1270230	1270230	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:1270230G>A	ENST00000348261.5	+	35	6546	c.6298G>A	c.(6298-6300)Gag>Aag	p.E2100K	CACNA1H_ENST00000358590.4_Missense_Mutation_p.E2094K|CACNA1H_ENST00000565831.1_Missense_Mutation_p.E2094K	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2100					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AGCCGACGAGGAGGTCAGCCA	0.741000													5	12					0	0	0.003080	0	0
SLC29A4	222962	broad.mit.edu	37	7	5334561	5334561	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:5334561G>A	ENST00000396872.2	+	6	776	c.615G>A	c.(613-615)ggG>ggA	p.G205G	SLC29A4_ENST00000297195.4_Silent_p.G205G|SLC29A4_ENST00000406453.3_Silent_p.G191G	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	205					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TGATGACCGGGGAGAGTGAGT	0.627000													35	151					0	0	0.004878	0	0
OR10X1	128367	broad.mit.edu	37	1	158549165	158549165	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:158549165C>T	ENST00000368150.1	-	1	524	c.525G>A	c.(523-525)gaG>gaA	p.E175E		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	175					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)					TCAGTGCAGTCTCTGTAAGAG	0.443000													11	35					0	0	0.010729	0	0
TTN	7273	broad.mit.edu	37	2	179615636	179615636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:179615636C>T	ENST00000360870.5	-	46	11713	c.11491G>A	c.(11491-11493)Gaa>Aaa	p.E3831K	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9665							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)			TGGGTATTTTCATTTACTAGA	0.363000													25	119					0	0	0.003954	0	0
ATG2A	23130	broad.mit.edu	37	11	64677579	64677579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:64677579G>A	ENST00000421419.2	-	13	1910	c.1796C>T	c.(1795-1797)gCc>gTc	p.A599V	ATG2A_ENST00000377264.3_Missense_Mutation_p.A599V			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	599							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CCGGTCCAGGGCCCCCAGCTC	0.726000													13	24					0	0	0.002450	0	0
GPR45	11250	broad.mit.edu	37	2	105859346	105859346	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:105859346A>T	ENST00000258456.1	+	1	1147	c.1031A>T	c.(1030-1032)cAa>cTa	p.Q344L		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	344						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CAGACCTTCCAAATCCTCCCC	0.542000													12	74					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179612194	179612194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:179612194C>T	ENST00000360870.5	-	46	15155	c.14933G>A	c.(14932-14934)aGt>aAt	p.S4978N	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1087	Ig-like 30.						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)			TATTTCTTCACTGGTTGTACT	0.383000													17	53					0	0	0.004007	0	0
OR52K2	119774	broad.mit.edu	37	11	4470892	4470892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:4470892C>T	ENST00000325719.4	+	1	368	c.323C>T	c.(322-324)tCc>tTc	p.S108F		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCCTTCACTCCTTCTCCATC	0.532000													27	48					0	0	0.004656	0	0
LRRC6	23639	broad.mit.edu	37	8	133645203	133645203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:133645203C>T	ENST00000519595.1	-	5	534	c.436G>A	c.(436-438)Gat>Aat	p.D146N	LRRC6_ENST00000250173.1_Missense_Mutation_p.D146N|LRRC6_ENST00000520446.1_Intron|LRRC6_ENST00000518642.1_Missense_Mutation_p.D146N			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	146	LRRCT.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCTTTACCATCCAACCACTTA	0.343000													22	31					0	0	0.010504	0	0
NISCH	11188	broad.mit.edu	37	3	52523640	52523640	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:52523640C>T	ENST00000345716.4	+	17	3536	c.3402C>T	c.(3400-3402)gtC>gtT	p.V1134V	NISCH_ENST00000479054.1_Silent_p.V1134V	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1134					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TCCGGCACGTCGCCAGCCTGC	0.672000													52	66					0	0	0.014410	0	0
MUSK	4593	broad.mit.edu	37	9	113563067	113563067	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:113563067C>T	ENST00000416899.2	+	13	2511	c.2385C>T	c.(2383-2385)taC>taT	p.Y795Y	MUSK_ENST00000374448.4_Silent_p.Y803Y|MUSK_ENST00000189978.5_Silent_p.Y803Y			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	803	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGCAGCCCTACTATGGGATGG	0.537000													25	14					0	0	0.002780	0	0
KCNU1	157855	broad.mit.edu	37	8	36644919	36644919	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:36644919C>T	ENST00000399881.3	+	2	328	c.291C>T	c.(289-291)gcC>gcT	p.A97A		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	97						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGCTTTCAGCCCAGACCTTTG	0.423000													14	13					0	0	0.003163	0	0
SATB2	23314	broad.mit.edu	37	2	200137332	200137332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:200137332G>A	ENST00000443023.1	-	10	3092	c.1627C>T	c.(1627-1629)Ccc>Tcc	p.P543S	SATB2_ENST00000260926.5_Missense_Mutation_p.P602S|SATB2_ENST00000417098.1_Missense_Mutation_p.P602S|SATB2_ENST00000457245.1_Missense_Mutation_p.P602S|SATB2_ENST00000428695.1_Missense_Mutation_p.P484S			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	602						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGAGGTGGGGGAGGCGCTTCT	0.502000													41	128					0	0	0.014410	0	0
CBX7	23492	broad.mit.edu	37	22	39530535	39530535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:39530535G>A	ENST00000216133.5	-	5	674	c.469C>T	c.(469-471)Ccg>Tcg	p.P157S	CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Intron	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	157					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					CCGCGGGGCGGGAACTTCTTG	0.697000													15	5					0	0	0.003163	0	0
CDKN1B	1027	broad.mit.edu	37	12	12870980	12870980	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:12870980C>T	ENST00000228872.4	+	1	923	c.207C>T	c.(205-207)ccC>ccT	p.P69P	CDKN1B_ENST00000396340.1_Silent_p.P69P|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	69			P -> L (found in a patient with multiple endocrine tumors; germline mutation; reduced expression levels; shows impaired binding to CDK2).		autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		ATCACAAACCCCTAGAGGGCA	0.577000													29	79					0	0	0.008361	0	0
LILRB2	10288	broad.mit.edu	37	19	54783502	54783502	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:54783502C>T	ENST00000391748.1	-	5	483	c.355_splice	c.e5-1	p.G119_splice	LILRB2_ENST00000391749.4_Splice_Site_p.G119_splice|LILRB2_ENST00000434421.1_Splice_Site_p.G3_splice|LILRB2_ENST00000314446.5_Splice_Site_p.G119_splice|LILRB2_ENST00000391746.1_Splice_Site_p.G119_splice	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	119	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGTAGGCTCCTAGGAGAGA	0.627000													31	52					0	0	0.013726	0	0
CFAP54	144535	broad.mit.edu	37	12	97078989	97078989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:97078989G>A	ENST00000524981.3	+	9	1340	c.1340G>A	c.(1339-1341)gGa>gAa	p.G447E				Q6ZTY8	CL063_HUMAN		421										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TGTTTGCAAGGAGCAGTCATA	0.507000													7	32					0	0	0.010729	0	0
CYLC1	1538	broad.mit.edu	37	X	83129138	83129138	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:83129138G>A	ENST00000329312.4	+	4	1459	c.1422G>A	c.(1420-1422)aaG>aaA	p.K474K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	474					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATGACAAAAAGAAGGATGCAA	0.358000													10	3					0	0	0.006214	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110033633	110033633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:110033633C>T	ENST00000369870.3	+	10	1463	c.1448C>T	c.(1447-1449)cCc>cTc	p.P483L		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	483										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGCACCTGCCCCCGCCTTCCA	0.637000											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	710					0	0	0.010504	0	0
CCDC108	255101	broad.mit.edu	37	2	219870876	219870876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:219870876C>T	ENST00000341552.5	-	31	4872	c.4789G>A	c.(4789-4791)Gag>Aag	p.E1597K	CCDC108_ENST00000453220.1_Missense_Mutation_p.E1597K|CCDC108_ENST00000441968.1_Missense_Mutation_p.E1597K|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1597						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACACCTCCTCCTTTGGGGTC	0.617000													25	74					0	0	0.004656	0	0
KIAA1257	57501	broad.mit.edu	37	3	128696912	128696912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:128696912C>T	ENST00000265068.5	-	5	951	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	KIAA1257_ENST00000515659.1_Missense_Mutation_p.E150K|KIAA1257_ENST00000511438.1_Missense_Mutation_p.E262K|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	262										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GGGTGTTTTTCTGTTTTTTCT	0.463000													25	59					0	0	0.004656	0	0
B4GALT5	9334	broad.mit.edu	37	20	48273211	48273211	+	Silent	SNP	G	G	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:48273211G>T	ENST00000371711.4	-	2	331	c.144C>A	c.(142-144)gcC>gcA	p.A48A		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	48					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			GAATGCCTTGGGCTTGCATCA	0.448000													117	64					2.91707e-64	3.04195e-64	0.014410	1	0
FAT3	120114	broad.mit.edu	37	11	92568068	92568068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:92568068G>A	ENST00000298047.6	+	14	9921	c.9904G>A	c.(9904-9906)Gaa>Aaa	p.E3302K	FAT3_ENST00000525166.1_Missense_Mutation_p.E3152K|FAT3_ENST00000409404.2_Missense_Mutation_p.E3302K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3302	Cadherin 30.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTGGACTATGAATTATGCAA	0.428000										TCGA Ovarian(4;0.039)			267	431					0	0	0.014410	0	0
GPR158	57512	broad.mit.edu	37	10	25861749	25861749	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:25861749G>A	ENST00000376351.3	+	7	2045	c.1686G>A	c.(1684-1686)ggG>ggA	p.G562G		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	562						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTGGCCAGGGGAAAACATCCG	0.443000													17	16					0	0	0.006122	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332730	22332730	+	RNA	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:22332730C>T	ENST00000558896.1	+	0	537																											CCTCCACTTTCTAGGAGCCAG	0.478000													20	45					0	0	0.008871	0	0
LIPH	200879	broad.mit.edu	37	3	185226631	185226631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:185226631C>T	ENST00000296252.4	-	10	1444	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	LIPH_ENST00000424591.2_Missense_Mutation_p.E401K	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	435					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCAACGTTTTCCATCAGGACA	0.373000													136	202					0	0	0.014410	0	0
NAV3	89795	broad.mit.edu	37	12	78513272	78513272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:78513272C>T	ENST00000397909.2	+	15	3469	c.3296C>T	c.(3295-3297)tCt>tTt	p.S1099F	NAV3_ENST00000536525.2_Missense_Mutation_p.S1099F|NAV3_ENST00000266692.7_Missense_Mutation_p.S1099F|NAV3_ENST00000228327.6_Missense_Mutation_p.S1099F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1099	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTCCAAAATCTGCTGCCATT	0.473000										HNSCC(70;0.22)			21	49					0	0	0.012319	0	0
CRB1	23418	broad.mit.edu	37	1	197316531	197316531	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:197316531C>T	ENST00000367400.3	+	4	1045	c.910C>T	c.(910-912)Ctt>Ttt	p.L304F	CRB1_ENST00000543483.1_Missense_Mutation_p.L3F|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000538660.1_Missense_Mutation_p.L304F|CRB1_ENST00000535699.1_Missense_Mutation_p.L235F	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	304	EGF-like 8.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTTGATGCCTCTTTGTTGGTC	0.423000													38	35					0	0	0.007835	0	0
LILRB5	10990	broad.mit.edu	37	19	54754889	54754889	+	Silent	SNP	T	T	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:54754889T>C	ENST00000450632.1	-	13	1823	c.1746A>G	c.(1744-1746)agA>agG	p.R582R	LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	388					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCATCTGTCTGTCCTCTT	0.597000													3	32					0	0	0.009096	0	0
SI	6476	broad.mit.edu	37	3	164785137	164785137	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:164785137C>T	ENST00000264382.3	-	6	688	c.626G>A	c.(625-627)gGt>gAt	p.G209D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	209	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAAAGTTTTACCGTTGCTTTT	0.289000										HNSCC(35;0.089)			24	32					0	0	0.002780	0	0
SPG11	80208	broad.mit.edu	37	15	44865889	44865889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:44865889G>A	ENST00000261866.7	-	32	6077	c.6061C>T	c.(6061-6063)Cgg>Tgg	p.R2021W	SPG11_ENST00000558319.1_Missense_Mutation_p.R2021W|SPG11_ENST00000427534.2_Missense_Mutation_p.R2021W|SPG11_ENST00000535302.2_Intron	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2021					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AAGATTTTCCGGAGCATGGCT	0.547000													22	41					0	0	0.014323	0	0
CCNT2	905	broad.mit.edu	37	2	135711716	135711716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:135711716C>T	ENST00000264157.5	+	9	1721	c.1691C>T	c.(1690-1692)cCt>cTt	p.P564L	CCNT2_ENST00000537343.1_Missense_Mutation_p.P389L|CCNT2_ENST00000295238.6_Missense_Mutation_p.P564L	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	564					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		AAGGAGCATCCTTCAAGCCGC	0.527000													33	40					0	0	0.003271	0	0
EEF1A2	1917	broad.mit.edu	37	20	62122033	62122033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:62122033C>T	ENST00000217182.3	-	6	993	c.828G>A	c.(826-828)atG>atA	p.M276I	EEF1A2_ENST00000298049.7_Missense_Mutation_p.M276I	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	276						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			AGGTCACCACCATGCCCGGCC	0.672000													8	83					0	0	0.004482	0	0
ACTN2	88	broad.mit.edu	37	1	236912519	236912519	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:236912519G>A	ENST00000366578.4	+	14	1777	c.1611G>A	c.(1609-1611)gaG>gaA	p.E537E	ACTN2_ENST00000546208.1_Silent_p.E31E|ACTN2_ENST00000542672.1_Silent_p.E537E	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	537					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCGCTATGGAGGATCTGCAAG	0.443000													36	39					0	0	0.004289	0	0
SMARCC2	6601	broad.mit.edu	37	12	56563979	56563979	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:56563979A>C	ENST00000394023.3	-	23	2466	c.2361T>G	c.(2359-2361)aaT>aaG	p.N787K	SMARCC2_ENST00000347471.4_Missense_Mutation_p.N787K|SMARCC2_ENST00000267064.4_Missense_Mutation_p.N756K|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.N787K	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	756	Glu-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GAGCCTCGTCATTCCCGCTCT	0.498000													22	36					0	0	0.005443	0	0
RIMKLA	284716	broad.mit.edu	37	1	42880226	42880226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:42880226G>A	ENST00000431473.3	+	5	886	c.757G>A	c.(757-759)Ggc>Agc	p.G253S		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	253	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CAACATCCTAGGCATGGACTT	0.517000													135	177					0	0	0.014410	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502682	140502682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:140502682C>T	ENST00000194152.1	+	1	1102	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		368	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTATCTTCCGAATTCGAGA	0.403000													53	132					0	0	0.014410	0	0
C10orf82	143379	broad.mit.edu	37	10	118425131	118425131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:118425131G>A	ENST00000369210.3	-	3	316	c.262C>T	c.(262-264)Ccc>Tcc	p.P88S	C10orf82_ENST00000588184.1_Missense_Mutation_p.P88S	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	88										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		AGGATCAGGGGGTGGTACTGC	0.602000													17	33					0	0	0.010504	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22197493	22197493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:22197493C>T	ENST00000344041.6	-	15	1390	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	RAPGEF5_ENST00000401957.2_Missense_Mutation_p.E210K	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	210	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GGTGAATATTCATCTACAGTG	0.403000													27	34					0	0	0.008361	0	0
KCND2	3751	broad.mit.edu	37	7	120385961	120385961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:120385961G>A	ENST00000331113.4	+	5	2560	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	532					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TGCTGTTCACGACGACACAAA	0.443000													32	71					0	0	0.006999	0	0
HEXDC	284004	broad.mit.edu	37	17	80382279	80382279	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:80382279C>T	ENST00000337014.6	+	3	568	c.94C>T	c.(94-96)Ctg>Ttg	p.L32L	HEXDC_ENST00000327949.9_Silent_p.L32L|HEXDC_ENST00000577944.1_Silent_p.L32L	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	32					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GATTTTTCCTCTGTTCCGTGC	0.572000													21	111					0	0	0.014323	0	0
MARCO	8685	broad.mit.edu	37	2	119739072	119739072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:119739072C>T	ENST00000541757.1	+	10	1000	c.620C>T	c.(619-621)cCa>cTa	p.P207L	MARCO_ENST00000327097.4_Missense_Mutation_p.P285L			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	285	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TTCGGGAGGCCAGGCCCACCA	0.512000													9	12					0	0	0.006214	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000310	16000310	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:16000310G>A	ENST00000221700.5	-	7	936	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	CYP4F2_ENST00000592328.1_Nonsense_Mutation_p.Q281*|CYP4F2_ENST00000011989.7_Nonsense_Mutation_p.Q132*	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	281					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCAACACCCTGGCTAGGGAGA	0.577000													18	79					0	0	0.008871	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187258	140187258	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:140187258C>T	ENST00000530339.1	+	1	486	c.486C>T	c.(484-486)atC>atT	p.I162I	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.I162I|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Silent_p.I162I	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCAGATATCGGGGAGAACG	0.527000													19	78					0	0	0.006122	0	0
MEGF11	84465	broad.mit.edu	37	15	66207909	66207909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:66207909C>T	ENST00000409699.2	-	19	2544	c.2372G>A	c.(2371-2373)gGg>gAg	p.G791E	MEGF11_ENST00000422354.1_Missense_Mutation_p.G791E|MEGF11_ENST00000288745.3_Missense_Mutation_p.G716E|MEGF11_ENST00000395625.2_Missense_Mutation_p.G716E|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000360698.4_Missense_Mutation_p.G868S			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	791	EGF-like 14.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CTGCTGACACCCATAGCCAAA	0.537000													10	39					0	0	0.008291	0	0
TET1	80312	broad.mit.edu	37	10	70405196	70405196	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:70405196C>T	ENST00000373644.4	+	4	2919	c.2710C>T	c.(2710-2712)Cca>Tca	p.P904S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	904					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTCAGAAGCCCCATCAGAGAA	0.453000													44	40					0	0	0.010771	0	0
CSMD1	64478	broad.mit.edu	37	8	3267101	3267101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:3267101G>A	ENST00000520002.1	-	14	2146	c.1591C>T	c.(1591-1593)Cct>Tct	p.P531S	CSMD1_ENST00000602723.1_Missense_Mutation_p.P531S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P530S|CSMD1_ENST00000539096.1_Missense_Mutation_p.P530S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P531S|CSMD1_ENST00000537824.1_Missense_Mutation_p.P530S|CSMD1_ENST00000602557.1_Missense_Mutation_p.P531S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	531	Sushi 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGGATTCCAGGATCCCCACAC	0.473000													4	12					0	0	0.001984	0	0
NOS2	4843	broad.mit.edu	37	17	26089931	26089931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:26089931G>A	ENST00000313735.6	-	22	2926	c.2693C>T	c.(2692-2694)tCc>tTc	p.S898F		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	898	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GGGGAGCTGGGAAAGCAGGAA	0.597000													11	9					0	0	0.010729	0	0
COL3A1	1281	broad.mit.edu	37	2	189870113	189870113	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:189870113G>A	ENST00000304636.3	+	41	3139	c.2969G>A	c.(2968-2970)gGa>gAa	p.G990E	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	990	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGTCTCAGTGGAGAACGTGGT	0.453000													30	91					0	0	0.004289	0	0
DTL	51514	broad.mit.edu	37	1	212274371	212274371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:212274371C>T	ENST00000366991.4	+	14	2353	c.2039C>T	c.(2038-2040)cCg>cTg	p.P680L	DTL_ENST00000542077.1_Missense_Mutation_p.P638L|DTL_ENST00000475419.1_3'UTR	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	680					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CCACGAAGTCCGTCATCCCAG	0.483000													11	34					0	0	0.008291	0	0
FLG2	388698	broad.mit.edu	37	1	152323637	152323637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:152323637C>T	ENST00000388718.5	-	3	6697	c.6625G>A	c.(6625-6627)Gga>Aga	p.G2209R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2209							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGACTGTCCATGTCGAGAT	0.507000													132	157					0	0	0.014410	0	0
THSD7B	80731	broad.mit.edu	37	2	138400174	138400174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:138400174C>T	ENST00000409968.1	+	21	4094	c.3916C>T	c.(3916-3918)Ctt>Ttt	p.L1306F	THSD7B_ENST00000413152.2_Missense_Mutation_p.L1278F|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.L1309F					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGCTGGGTCCTTGGCAACTG	0.478000													21	91					0	0	0.008871	0	0
CCDC146	57639	broad.mit.edu	37	7	76909908	76909908	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:76909908C>T	ENST00000285871.4	+	14	1984	c.1857C>T	c.(1855-1857)atC>atT	p.I619I	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Silent_p.I333I	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	619										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TCACAATGATCGAAGAGGAGA	0.418000													16	29					0	0	0.004990	0	0
TTC37	9652	broad.mit.edu	37	5	94863846	94863846	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:94863846G>A	ENST00000358746.2	-	13	1303	c.1005C>T	c.(1003-1005)atC>atT	p.I335I		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	335							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GATTATCTACGATCTTCAGAG	0.338000													26	24					0	0	0.005443	0	0
PRKG2	5593	broad.mit.edu	37	4	82125774	82125774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:82125774G>A	ENST00000395578.1	-	2	544	c.428C>T	c.(427-429)tCc>tTc	p.S143F	PRKG2_ENST00000264399.1_Missense_Mutation_p.S143F|PRKG2_ENST00000418486.2_Missense_Mutation_p.S143F			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	143					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTTCTCAAAGGAAAATTCAGG	0.453000													142	350					0	0	0.014410	0	0
APLNR	187	broad.mit.edu	37	11	57003474	57003474	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:57003474G>A	ENST00000606794.1	-	1	1201	c.1005C>T	c.(1003-1005)tcC>tcT	p.S335S		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	335						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGCTGCTGTGGGAGGTGCCTG	0.637000													25	48					0	0	0.003954	0	0
TRIM56	81844	broad.mit.edu	37	7	100732537	100732537	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:100732537C>T	ENST00000306085.6	+	3	2241	c.1944C>T	c.(1942-1944)ttC>ttT	p.F648F		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	648					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	p.F648F(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGGGCATTTCGTGGGGTCGG	0.652000													69	121					0	0	0.014410	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44612349	44612349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:44612349G>A	ENST00000273320.3	+	6	2176	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.E583K|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		CAAATGTAGTGAATGTGGGAA	0.428000													26	68					0	0	0.009535	0	0
TTC23	64927	broad.mit.edu	37	15	99678315	99678315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:99678315G>A	ENST00000394132.2	-	14	2061	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	TTC23_ENST00000558663.1_Missense_Mutation_p.S415L|TTC23_ENST00000394136.1_Missense_Mutation_p.S415L|TTC23_ENST00000394135.3_Missense_Mutation_p.S415L|TTC23_ENST00000558613.1_Missense_Mutation_p.S415L|TTC23_ENST00000262074.4_Missense_Mutation_p.S415L			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	415							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			CCTTGGCTTCGAAGCAACCTT	0.642000													19	52					0	0	0.010504	0	0
HTT	3064	broad.mit.edu	37	4	3234954	3234954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:3234954C>T	ENST00000355072.5	+	61	8475	c.8330C>T	c.(8329-8331)cCc>cTc	p.P2777L	HTT_ENST00000513806.1_Intron	NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2777					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGCCACCTGCCCAGCAGGGTT	0.637000													70	98					0	0	0.014410	0	0
ENPP3	5169	broad.mit.edu	37	6	131992443	131992443	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:131992443C>T	ENST00000414305.1	+	8	946	c.618C>T	c.(616-618)ttC>ttT	p.F206F	ENPP3_ENST00000357639.3_Silent_p.F206F|ENPP3_ENST00000358229.5_Silent_p.F206F|ENPP3_ENST00000543135.1_Silent_p.F172F|ENPP3_ENST00000427148.2_Silent_p.F172F|ENPP3_ENST00000470930.1_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	206	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CCAAAACCTTCCCAAATCATT	0.408000													25	23					0	0	0.005443	0	0
CDH23	64072	broad.mit.edu	37	10	73559349	73559349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:73559349G>A	ENST00000224721.6	+	51	7345	c.7340G>A	c.(7339-7341)gGa>gAa	p.G2447E	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.G202E	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2442	Cadherin 23.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TACAGCCTTGGAGATGGAGAG	0.542000													39	25					0	0	0.006999	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262086	140262086	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:140262086A>T	ENST00000289272.2	+	1	233	c.233A>T	c.(232-234)aAt>aTt	p.N78I	PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.N78I|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAGGTAAATCTGCAGAAT	0.627000													48	163					0	0	0.014410	0	0
SPATA32	124783	broad.mit.edu	37	17	43332509	43332509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:43332509G>A	ENST00000543122.1	-	6	1758	c.977C>T	c.(976-978)tCc>tTc	p.S326F	MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|SPATA32_ENST00000331780.4_Missense_Mutation_p.S347F					spermatogenesis associated 32																		CAGCAGAGGGGACGTGGCTGG	0.587000													23	18					0	0	0.002780	0	0
LPAL2	80350	broad.mit.edu	37	6	160913983	160913983	+	RNA	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:160913983G>A	ENST00000335388.5	-	0	337					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GCAGTAGTTCGAGATCAAGCC	0.493000													37	17					0	0	0.006230	0	0
ATP2A1	487	broad.mit.edu	37	16	28895898	28895898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:28895898G>A	ENST00000395503.4	+	6	650	c.466G>A	c.(466-468)Ggg>Agg	p.G156R	ATP2A1_ENST00000357084.3_Missense_Mutation_p.G156R|ATP2A1_ENST00000536376.1_Missense_Mutation_p.G31R	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	156					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTCCACAGTGGGGGACAAAGT	0.537000													21	15					0	0	0.014323	0	0
LRP1	4035	broad.mit.edu	37	12	57552254	57552254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:57552254G>A	ENST00000243077.3	+	11	2097	c.1631G>A	c.(1630-1632)gGg>gAg	p.G544E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	544					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATGGATATGGGGGCCAAGGTC	0.597000													16	21					0	0	0.003163	0	0
CWH43	80157	broad.mit.edu	37	4	48990672	48990672	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:48990672G>A	ENST00000226432.4	+	2	405	c.222G>A	c.(220-222)agG>agA	p.R74R	CWH43_ENST00000513409.1_Silent_p.R47R	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	74					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CCCTGCTGAGGATAATCACTA	0.303000													7	22					0	0	0.001984	0	0
FCRL5	83416	broad.mit.edu	37	1	157516930	157516930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:157516930C>T	ENST00000361835.3	-	3	267	c.110G>A	c.(109-111)gGa>gAa	p.G37E	FCRL5_ENST00000368189.3_Missense_Mutation_p.G37E|FCRL5_ENST00000368188.2_Missense_Mutation_p.G37E|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000356953.4_Missense_Mutation_p.G37E|FCRL5_ENST00000368190.3_Missense_Mutation_p.G37E	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	37	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CACTCTCTCTCCTTGGAAGAC	0.498000													32	105					0	0	0.013726	0	0
ABCC6	368	broad.mit.edu	37	16	16244555	16244555	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:16244555G>T	ENST00000205557.7	-	30	4312	c.4283C>A	c.(4282-4284)gCt>gAt	p.A1428D		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1428	ABC transporter 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGCAGCAGTAGCCTCGTCCAG	0.622000													9	14					1.76689e-08	1.81269e-08	0.006214	1	0
SORCS1	114815	broad.mit.edu	37	10	108923956	108923956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:108923956C>T	ENST00000263054.6	-	1	336	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	SORCS1_ENST00000344440.6_Missense_Mutation_p.R110Q	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	110						integral to membrane	neuropeptide receptor activity|protein binding	p.R110L(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CGCTCCGCTCCGTCTCCTCCG	0.706000													15	8					0	0	0.003163	0	0
VPS13D	55187	broad.mit.edu	37	1	12433865	12433865	+	Silent	SNP	C	C	T	rs145410334		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:12433865C>T	ENST00000358136.3	+	55	10999	c.10869C>T	c.(10867-10869)ctC>ctT	p.L3623L	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.L3598L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3622					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTGCGGAGCTCGTTTTGGATG	0.383000													6	55					0	0	0.003080	0	0
OR51A2	401667	broad.mit.edu	37	11	4976899	4976899	+	Silent	SNP	G	G	A	rs143598087		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:4976899G>A	ENST00000380371.1	-	1	44	c.45C>T	c.(43-45)ttC>ttT	p.F15F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCAACCAAGAAGAAGGTGG	0.413000													26	40					0	0	0.013726	0	0
ITGA5	3678	broad.mit.edu	37	12	54795612	54795612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:54795612G>A	ENST00000293379.4	-	22	2515	c.2254C>T	c.(2254-2256)Cct>Tct	p.P752S	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	752					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CGGAGATGAGGGACTGTAAAC	0.552000													16	20					0	0	0.008871	0	0
TENM4	26011	broad.mit.edu	37	11	78387364	78387364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:78387364C>T	ENST00000278550.7	-	30	5791	c.5329G>A	c.(5329-5331)Gag>Aag	p.E1777K		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		AGCGCCACCTCCATGCCGTTG	0.627000													15	30					0	0	0.004990	0	0
PTCHD2	57540	broad.mit.edu	37	1	11579922	11579922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:11579922C>T	ENST00000294484.6	+	9	2323	c.2185C>T	c.(2185-2187)Cgc>Tgc	p.R729C	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R729C	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	729					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGTCAAGAGCCGCTGGGTGAT	0.667000													48	68					0	0	0.014410	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38348926	38348926	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:38348926C>T	ENST00000436615.3	+	12	1597	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	RAPGEFL1_ENST00000264644.6_Silent_p.F369F|RAPGEFL1_ENST00000456989.2_Silent_p.F424F|RAPGEFL1_ENST00000544503.1_Silent_p.F418F	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	575					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TGATTCCCTTCGTGCCTCTGA	0.532000													98	46					0	0	0.014410	0	0
ELANE	1991	broad.mit.edu	37	19	855770	855770	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:855770G>A	ENST00000590230.1	+	5	714	c.573G>A	c.(571-573)agG>agA	p.R191R	ELANE_ENST00000263621.1_Silent_p.R191R			P08246	ELNE_HUMAN	elastase, neutrophil expressed	191	Peptidase S1.		Missing (in GFI1).|R -> Q (in CH; loss of interaction with NOTCH2NL and loss of NOTCH2NL and NOTCH2 proteolytic cleavage).		cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTCTCGTGAGGGGCCGGCAGG	0.677000													14	55					0	0	0.004990	0	0
NT5DC2	64943	broad.mit.edu	37	3	52562897	52562897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:52562897G>A	ENST00000307076.4	-	3	761	c.361C>T	c.(361-363)Ctc>Ttc	p.L121F	NT5DC2_ENST00000459839.1_Intron|NT5DC2_ENST00000307092.4_Intron|NT5DC2_ENST00000422318.2_Missense_Mutation_p.L158F	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	121							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TCATAGTGGAGGCCACGGATG	0.582000													59	79					0	0	0.014410	0	0
TRHDE	29953	broad.mit.edu	37	12	73056945	73056945	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:73056945C>T	ENST00000261180.4	+	19	3141	c.3045C>T	c.(3043-3045)ttC>ttT	p.F1015F		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1015					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACGAGCTTTTCCAATGGTTAG	0.398000													14	29					0	0	0.002450	0	0
DEPDC5	9681	broad.mit.edu	37	22	32217491	32217491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:32217491C>T	ENST00000400246.1	+	23	2016	c.1874C>T	c.(1873-1875)cCa>cTa	p.P625L	DEPDC5_ENST00000400249.2_Missense_Mutation_p.P625L|DEPDC5_ENST00000266091.3_Missense_Mutation_p.P625L|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382111.2_Missense_Mutation_p.P625L|DEPDC5_ENST00000382112.3_Missense_Mutation_p.P625L|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000400248.1_Missense_Mutation_p.P625L|DEPDC5_ENST00000535622.1_Intron			O75140	DEPD5_HUMAN	DEP domain containing 5	625					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGGGTAGGGCCATCCGGAGAA	0.537000													64	47					0	0	0.014410	0	0
ANAPC2	29882	broad.mit.edu	37	9	140079394	140079394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:140079394C>T	ENST00000323927.2	-	4	1023	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	340					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CTCCTCGATGCGCAGGCTGGC	0.701000													10	34					0	0	0.008291	0	0
ZSCAN12	9753	broad.mit.edu	37	6	28365888	28365888	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:28365888G>T	ENST00000361028.1	-	2	440	c.295C>A	c.(295-297)Cct>Act	p.P99T	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.P99T					zinc finger and SCAN domain containing 12											breast(2)|endometrium(3)|urinary_tract(1)	6						AGCTCCTCAGGTAGGATGGTC	0.577000													7	41					1.06961e-07	1.09615e-07	0.003080	1	0
PIAS4	51588	broad.mit.edu	37	19	4024107	4024107	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:4024107C>T	ENST00000262971.2	+	3	643	c.528C>T	c.(526-528)atC>atT	p.I176I	PIAS4_ENST00000596144.1_3'UTR	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	176	PINIT.				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGTTGATCCGGAACTCCA	0.637000													7	44					0	0	0.001984	0	0
TRPV5	56302	broad.mit.edu	37	7	142627511	142627511	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:142627511G>A	ENST00000265310.1	-	2	507	c.159C>T	c.(157-159)tcC>tcT	p.S53S	TRPV5_ENST00000442623.1_Silent_p.S53S	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	53					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CATTTTCCTTGGATGCTCGAA	0.502000													35	63					0	0	0.003271	0	0
KIF20B	9585	broad.mit.edu	37	10	91497763	91497763	+	Silent	SNP	T	T	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:91497763T>C	ENST00000416354.1	+	20	3327	c.3255T>C	c.(3253-3255)tcT>tcC	p.S1085S	KIF20B_ENST00000394289.2_Silent_p.S1055S|KIF20B_ENST00000371728.3_Silent_p.S1055S|KIF20B_ENST00000260753.4_Silent_p.S1015S|KIF20B_ENST00000478929.1_3'UTR			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1055					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CTTTCCACTCTAGTATTGAAG	0.333000													62	36					0	0	0.014410	0	0
RAD54L2	23132	broad.mit.edu	37	3	51664882	51664882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:51664882C>T	ENST00000409535.1	+	6	885	c.760C>T	c.(760-762)Cac>Tac	p.H254Y	RAD54L2_ENST00000296477.3_5'UTR	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	254						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CAACCTAAACCACCCTCCAGA	0.507000													43	64					0	0	0.014410	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55049216	55049216	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:55049216G>A	ENST00000335056.3	+	6	1019	c.981G>A	c.(979-981)caG>caA	p.Q327Q	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GTCATTCACAGAATCCACCCC	0.478000													43	45					0	0	0.014410	0	0
ABCA12	26154	broad.mit.edu	37	2	215843674	215843674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:215843674C>T	ENST00000272895.7	-	32	5050	c.4831G>A	c.(4831-4833)Gat>Aat	p.D1611N	ABCA12_ENST00000389661.4_Missense_Mutation_p.D1293N	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1611					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCCCCAATATCCTCCTTGAGG	0.493000													13	50					0	0	0.013537	0	0
PITPNM3	83394	broad.mit.edu	37	17	6376061	6376061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:6376061C>T	ENST00000262483.8	-	11	1432	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	ACKR6_ENST00000576664.1_5'UTR|ACKR6_ENST00000421306.3_Missense_Mutation_p.E413K	NM_031220.3	NP_112497.2																					AACTTGGGCTCCAGCAGTGGC	0.652000													19	14					0	0	0.014323	0	0
FAM149A	25854	broad.mit.edu	37	4	187084730	187084730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:187084730C>T	ENST00000356371.5	+	10	1859	c.1859C>T	c.(1858-1860)tCa>tTa	p.S620L	FAM149A_ENST00000514153.1_Missense_Mutation_p.S329L|FAM149A_ENST00000503432.1_Missense_Mutation_p.S329L|FAM149A_ENST00000389354.5_Missense_Mutation_p.S329L|FAM149A_ENST00000227065.4_Missense_Mutation_p.S329L|FAM149A_ENST00000502970.1_Missense_Mutation_p.S329L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	620										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GCTTCAGATTCACAGAGACTA	0.478000													15	50					0	0	0.003163	0	0
PLXNA2	5362	broad.mit.edu	37	1	208234099	208234099	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:208234099G>A	ENST00000367033.3	-	13	3427	c.2670C>T	c.(2668-2670)atC>atT	p.I890I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	890	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CATGGTGGGCGATCTCGGAGA	0.627000													32	37					0	0	0.009535	0	0
CCDC30	728621	broad.mit.edu	37	1	43108203	43108203	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:43108203G>A	ENST00000428554.2	+	19	2841	c.1698G>A	c.(1696-1698)agG>agA	p.R566R	CCDC30_ENST00000342022.4_Silent_p.R566R|CCDC30_ENST00000507855.1_Silent_p.R355R|CCDC30_ENST00000340612.4_Silent_p.R566R|CCDC30_ENST00000390640.4_Silent_p.R355R			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	566										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TAGAAAAAAGGAAACTTCAGG	0.463000													75	153					0	0	0.014410	0	0
CHD2	1106	broad.mit.edu	37	15	93444508	93444508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:93444508C>T	ENST00000394196.4	+	2	1109	c.41C>T	c.(40-42)tCg>tTg	p.S14L	CHD2_ENST00000420239.2_Missense_Mutation_p.S14L|CHD2_ENST00000557381.1_Missense_Mutation_p.S14L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	14	Ser-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAGGACAGTTCGCTACACAGC	0.403000													3	11					0	0	0.004672	0	0
CRIP3	401262	broad.mit.edu	37	6	43274219	43274219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:43274219G>A	ENST00000372569.3	-	5	369	c.365C>T	c.(364-366)tCg>tTg	p.S122L	CRIP3_ENST00000274990.4_Missense_Mutation_p.S122L	NM_206922.2	NP_996805.2	Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	122	LIM zinc-binding 2.					cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			AGGGCACAGCGAGGTCTCCCC	0.582000													26	55					0	0	0.010818	0	0
STXBP5L	9515	broad.mit.edu	37	3	121100155	121100155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:121100155C>T	ENST00000273666.6	+	23	2706	c.2435C>T	c.(2434-2436)tCc>tTc	p.S812F	STXBP5L_ENST00000497029.1_Missense_Mutation_p.S786F|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S788F|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S788F|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S812F	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	812					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CGAGAAAATTCCTATAATCGT	0.284000													42	83					0	0	0.010771	0	0
AADAT	51166	broad.mit.edu	37	4	170994383	170994383	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:170994383G>A	ENST00000337664.4	-	5	834	c.558C>T	c.(556-558)ccC>ccT	p.P186P	AADAT_ENST00000353187.2_Silent_p.P186P|AADAT_ENST00000515480.1_Silent_p.P186P|AADAT_ENST00000509167.1_Silent_p.P190P	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	186					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGTTTTTCTGGGGATTCTTTG	0.398000													48	94					0	0	0.014410	0	0
ITIH4	3700	broad.mit.edu	37	3	52850926	52850926	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:52850926C>T	ENST00000266041.4	-	21	2541	c.2445G>A	c.(2443-2445)aaG>aaA	p.K815K	ITIH4_ENST00000346281.5_Silent_p.K799K|ITIH4_ENST00000485816.1_Silent_p.K820K|ITIH4_ENST00000406595.1_Silent_p.K785K	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	815					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ATAGCGTCTCCTTCCACTTGT	0.582000													94	171					0	0	0.014410	0	0
CPNE9	151835	broad.mit.edu	37	3	9759820	9759820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:9759820G>A	ENST00000383832.3	+	16	1229	c.1039G>A	c.(1039-1041)Gat>Aat	p.D347N	CPNE9_ENST00000383831.3_Missense_Mutation_p.D347N	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	347	VWFA.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CTATGACAGTGATAAGCTCTT	0.577000													24	43					0	0	0.003330	0	0
CHD7	55636	broad.mit.edu	37	8	61748831	61748831	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:61748831C>T	ENST00000423902.2	+	16	4457	c.3978C>T	c.(3976-3978)ctC>ctT	p.L1326L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1326	Helicase C-terminal.				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)			AAGACTACCTCATTCAAAGAC	0.463000													18	30					0	0	0.007413	0	0
PADI6	353238	broad.mit.edu	37	1	17698834	17698834	+	RNA	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:17698834G>A	ENST00000434762.2	+	0	144							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTTGGGCACAGAAATCTGCTT	0.612000													99	138					0	0	0.014410	0	0
COL3A1	1281	broad.mit.edu	37	2	189868847	189868847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:189868847C>T	ENST00000304636.3	+	39	2971	c.2801C>T	c.(2800-2802)tCg>tTg	p.S934L	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	934	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GAGAAGGGATCGCCTGGTGCC	0.488000													13	39					0	0	0.007413	0	0
SNHG14	104472715	broad.mit.edu	37	15	25468394	25468394	+	RNA	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:25468394G>A	ENST00000453082.2	+	0	885				SNORD115-29_ENST00000362834.1_RNA	NR_003343.1																						CTCTGGGTTGGGTCAATGATG	0.527000													114	131					0	0	0.014410	0	0
PLCB4	5332	broad.mit.edu	37	20	9438076	9438076	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:9438076C>T	ENST00000378501.2	+	30	2991	c.2976C>T	c.(2974-2976)ctC>ctT	p.L992L	PLCB4_ENST00000414679.2_Silent_p.L1004L|PLCB4_ENST00000334005.3_Silent_p.L992L|PLCB4_ENST00000378473.3_Silent_p.L1004L|PLCB4_ENST00000278655.4_Silent_p.L992L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Silent_p.L992L	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	992					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GTAATTGTCTCGAAATGAAAA	0.368000													7	70					0	0	0.003080	0	0
CAMKV	79012	broad.mit.edu	37	3	49898415	49898415	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:49898415G>A	ENST00000477224.1	-	7	1077	c.599C>T	c.(598-600)cCt>cTt	p.P200L	CAMKV_ENST00000467248.1_Missense_Mutation_p.P125L|CAMKV_ENST00000488336.1_Missense_Mutation_p.P200L|CAMKV_ENST00000296471.7_Intron|CAMKV_ENST00000466940.1_Missense_Mutation_p.P157L|CAMKV_ENST00000463537.1_Missense_Mutation_p.P200L			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	200	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCAGTCCACAGGGCGTCCATA	0.592000													34	50					0	0	0.004289	0	0
KIF5A	3798	broad.mit.edu	37	12	57972125	57972125	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:57972125G>A	ENST00000455537.2	+	23	2812	c.2538_splice	c.e23+1	p.Q846_splice	KIF5A_ENST00000286452.5_Splice_Site_p.Q757_splice	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	846					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TTCACAAACAGGTAAGAGTCT	0.468000													26	53					0	0	0.003954	0	0
TXLNB	167838	broad.mit.edu	37	6	139564218	139564218	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:139564218C>T	ENST00000358430.3	-	10	1732	c.1500G>A	c.(1498-1500)gtG>gtA	p.V500V	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	500						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CCAGATTTTTCACGGCGGTTT	0.488000													70	49					0	0	0.014410	0	0
XCR1	2829	broad.mit.edu	37	3	46062536	46062536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:46062536G>A	ENST00000309285.3	-	2	1260	c.904C>T	c.(904-906)Ctc>Ttc	p.L302F	XCR1_ENST00000542109.1_Missense_Mutation_p.L302F	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	302					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AACTGCCGGAGAACATGTTTC	0.617000													7	15					0	0	0.003080	0	0
PTPRB	5787	broad.mit.edu	37	12	70946612	70946612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:70946612C>T	ENST00000334414.6	-	21	5376	c.5332G>A	c.(5332-5334)Gat>Aat	p.D1778N	PTPRB_ENST00000550857.1_Missense_Mutation_p.D1470N|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1690N|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1470N|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1470N|PTPRB_ENST00000261266.5_Missense_Mutation_p.D1560N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1560	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGAGTGGGATCGCATTTTCCA	0.423000													19	45					0	0	0.006122	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595640	140595640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:140595640G>A	ENST00000341948.4	+	1	2132	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		649	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACAATGGCGAGCCTCCGCG	0.726000													18	42					0	0	0.002780	0	0
ECEL1	9427	broad.mit.edu	37	2	233350790	233350790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:233350790C>T	ENST00000304546.1	-	2	784	c.574G>A	c.(574-576)Gag>Aag	p.E192K	ECEL1_ENST00000409941.1_Missense_Mutation_p.E192K	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	192					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CGCTCGATCTCGCGCATGTCG	0.771000													11	8					0	0	0.001855	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33565160	33565160	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:33565160T>A	ENST00000321505.4	+	1	1340	c.1160T>A	c.(1159-1161)aTa>aAa	p.I387K	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.I387K|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.I387K					KIAA1549-like																		TCCTTAACAATAGGAGACATG	0.458000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	37					0	0	0.007413	0	0
KCNK5	8645	broad.mit.edu	37	6	39163723	39163723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:39163723C>T	ENST00000359534.3	-	2	565	c.227G>A	c.(226-228)gGg>gAg	p.G76E		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	76					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGTCTGGTTCCCTGTGATGGC	0.493000													28	49					0	0	0.006320	0	0
ABCB11	8647	broad.mit.edu	37	2	169781287	169781287	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:169781287C>T	ENST00000263817.6	-	27	3769	c.3645G>A	c.(3643-3645)caG>caA	p.Q1215Q		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1215	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	p.Q1215H(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GTTGAGACCCCTGGGACCCAA	0.423000													28	44					0	0	0.007291	0	0
DNAH3	55567	broad.mit.edu	37	16	20976119	20976119	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:20976119C>T	ENST00000261383.3	-	53	9086	c.9087G>A	c.(9085-9087)aaG>aaA	p.K3029K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3029					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGACCTTGTCCTTACATTCAG	0.527000													22	23					0	0	0.002780	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092693	151092693	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:151092693C>T	ENST00000370340.3	+	3	824	c.557C>T	c.(556-558)tCc>tTc	p.S186F	MAGEA4_ENST00000370337.4_Missense_Mutation_p.S186F|MAGEA4_ENST00000393921.1_Missense_Mutation_p.S186F|MAGEA4_ENST00000393920.1_Missense_Mutation_p.S186F|MAGEA4_ENST00000276344.2_Missense_Mutation_p.S186F|MAGEA4_ENST00000370335.1_Missense_Mutation_p.S186F|MAGEA4_ENST00000360243.2_Missense_Mutation_p.S186F			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	186	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGCCTTTCCTATGATGGC	0.547000													86	27					0	0	0.014410	0	0
SEPT11	55752	broad.mit.edu	37	4	77941743	77941743	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:77941743C>T	ENST00000264893.6	+	7	1074	c.873C>T	c.(871-873)acC>acT	p.T291T	SEPT11_ENST00000510515.1_Silent_p.T301T|SEPT11_ENST00000541121.1_Silent_p.T301T|SEPT11_ENST00000502584.1_Silent_p.T291T|SEPT11_ENST00000505788.1_Silent_p.T291T|SEPT11_ENST00000512575.1_Intron	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	291					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						AGACTCACACCCGCCACTATG	0.478000													24	23					0	0	0.003954	0	0
PBX1	5087	broad.mit.edu	37	1	164776782	164776782	+	Silent	SNP	G	G	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:164776782G>T	ENST00000420696.2	+	5	893	c.705G>T	c.(703-705)cgG>cgT	p.R235R	PBX1_ENST00000540236.1_Silent_p.R235R|PBX1_ENST00000540246.1_Silent_p.R130R|PBX1_ENST00000401534.1_Silent_p.R235R|PBX1_ENST00000560641.1_Silent_p.R130R|PBX1_ENST00000367897.1_Silent_p.R235R|PBX1_ENST00000559240.1_Silent_p.R235R	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	235					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TACAAAGGCGGAAGAGACGGA	0.378000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								18	90					1.33834e-09	1.37749e-09	0.007413	1	0
PLCE1	51196	broad.mit.edu	37	10	95931128	95931128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:95931128G>A	ENST00000260766.3	+	4	2318	c.1684G>A	c.(1684-1686)Gac>Aac	p.D562N	PLCE1_ENST00000371385.3_Missense_Mutation_p.D254N|PLCE1_ENST00000371380.2_Missense_Mutation_p.D562N|PLCE1_ENST00000371375.1_Missense_Mutation_p.D254N	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	562	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CTTAACACGGGACTTGGGCAC	0.532000													53	36					0	0	0.014410	0	0
REV3L	5980	broad.mit.edu	37	6	111694991	111694991	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:111694991C>T	ENST00000435970.1	-	15	5149	c.4333G>A	c.(4333-4335)Gga>Aga	p.G1445R	REV3L_ENST00000358835.3_Missense_Mutation_p.G1523R|REV3L_ENST00000368802.3_Missense_Mutation_p.G1523R|REV3L_ENST00000368805.1_Missense_Mutation_p.G1523R			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1523					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CCAGACTGTCCTTCACCAAAT	0.373000								DNA polymerases (catalytic subunits)					92	33					0	0	0.014410	0	0
DVL2	1856	broad.mit.edu	37	17	7134113	7134113	+	Silent	SNP	C	C	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:7134113C>A	ENST00000005340.5	-	2	480	c.198G>T	c.(196-198)gtG>gtT	p.V66V	DVL2_ENST00000575458.1_Silent_p.V66V	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	66	DIX.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CTTCCTTCACCACCCTGCCAA	0.577000													52	23					1.39843e-22	1.4567e-22	0.014410	1	0
MYH1	4619	broad.mit.edu	37	17	10404526	10404526	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:10404526G>A	ENST00000226207.5	-	27	3733	c.3639C>T	c.(3637-3639)aaC>aaT	p.N1213N	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1213						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCGCTGCAGGTTGTCAATCT	0.557000													52	19					0	0	0.014410	0	0
BAI3	577	broad.mit.edu	37	6	70070788	70070788	+	Missense_Mutation	SNP	G	G	A	rs144968426		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:70070788G>A	ENST00000370598.1	+	29	4444	c.3623G>A	c.(3622-3624)cGa>cAa	p.R1208Q	BAI3_ENST00000238918.8_Missense_Mutation_p.R414Q|BAI3_ENST00000546190.1_Missense_Mutation_p.R172Q	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1208					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R1208Q(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGTCCTTGCCGAGCAGCCACA	0.358000													19	18					0	0	0.008871	0	0
XCL2	6846	broad.mit.edu	37	1	168511246	168511246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:168511246G>A	ENST00000367819.2	-	2	193	c.161C>T	c.(160-162)tCc>tTc	p.S54F		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	54					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity			large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					TGCTCTCAAGGAGCCTTCCGT	0.512000													18	69					0	0	0.008871	0	0
PLS1	5357	broad.mit.edu	37	3	142403191	142403191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:142403191C>T	ENST00000337777.3	+	8	1055	c.842C>T	c.(841-843)aCc>aTc	p.T281I	PLS1_ENST00000497002.1_Missense_Mutation_p.T281I|PLS1_ENST00000457734.2_Missense_Mutation_p.T281I	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	281	Actin-binding 1.|CH 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TACCATCTGACCAATGCAGGA	0.408000													31	30					0	0	0.012213	0	0
RBM41	55285	broad.mit.edu	37	X	106359888	106359888	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:106359888G>A	ENST00000372487.1	-	2	143	c.117C>T	c.(115-117)tcC>tcT	p.S39S	RBM41_ENST00000372479.3_Silent_p.S39S|RBM41_ENST00000203616.8_Silent_p.S39S|RBM41_ENST00000471079.1_5'UTR	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	39							nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						ACTCCTCAATGGAGACAGAAG	0.473000													42	13					0	0	0.006999	0	0
EHBP1	23301	broad.mit.edu	37	2	63085637	63085637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:63085637C>T	ENST00000263991.5	+	8	1213	c.731C>T	c.(730-732)tCc>tTc	p.S244F	EHBP1_ENST00000405015.3_Intron|EHBP1_ENST00000431489.1_Intron|EHBP1_ENST00000405289.1_Intron|EHBP1_ENST00000354487.3_Intron	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	244						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TCAGCCAGTTCCTCTGAAGGT	0.408000													23	30					0	0	0.003330	0	0
DNAH5	1767	broad.mit.edu	37	5	13862717	13862717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:13862717G>A	ENST00000265104.4	-	29	4840	c.4736C>T	c.(4735-4737)tCg>tTg	p.S1579L	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1579	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATGATTTCCGAGGTACTGTC	0.458000									Kartagener syndrome				17	65					0	0	0.004990	0	0
CPNE5	57699	broad.mit.edu	37	6	36767803	36767803	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:36767803G>A	ENST00000244751.2	-	4	852	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	76	C2 1.							p.F76F(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						ACTTGCGCACGAAGTCAGGAT	0.552000													17	31					0	0	0.006122	0	0
TSC22D2	9819	broad.mit.edu	37	3	150127275	150127275	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:150127275C>T	ENST00000361875.2	+	1	1154	c.138C>T	c.(136-138)tcC>tcT	p.S46S	TSC22D2_ENST00000361136.2_Silent_p.S46S	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	46							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ACGTCTCCTCCGAGATTTTCG	0.602000													12	20					0	0	0.013537	0	0
BRD8	10902	broad.mit.edu	37	5	137500047	137500047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:137500047G>A	ENST00000254900.5	-	13	2158	c.1787C>T	c.(1786-1788)cCt>cTt	p.P596L	BRD8_ENST00000402931.1_Missense_Mutation_p.P596L|BRD8_ENST00000230901.5_Missense_Mutation_p.P669L|BRD8_ENST00000455658.2_Missense_Mutation_p.P555L|BRD8_ENST00000411594.2_Missense_Mutation_p.P599L|BRD8_ENST00000515014.1_5'UTR	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	596					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCCTCTAAAGGATCTTCAAT	0.423000													30	50					0	0	0.003755	0	0
ADH7	131	broad.mit.edu	37	4	100350697	100350697	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:100350697G>A	ENST00000437033.2	-	2	615	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	ADH7_ENST00000476959.1_Missense_Mutation_p.R58C|ADH7_ENST00000209665.4_Missense_Mutation_p.R50C|ADH7_ENST00000482593.1_5'UTR			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	50					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	ACCTTAATGCGAACTTCTTTA	0.403000													10	20					0	0	0.010729	0	0
KIF21B	23046	broad.mit.edu	37	1	200948729	200948729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:200948729G>A	ENST00000332129.2	-	29	4371	c.4055C>T	c.(4054-4056)tCc>tTc	p.S1352F	KIF21B_ENST00000360529.5_Missense_Mutation_p.S1352F|KIF21B_ENST00000422435.2_Missense_Mutation_p.S1365F|KIF21B_ENST00000461742.2_Missense_Mutation_p.S1365F	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1365					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGTGGACACGGAGAACACAAG	0.582000											OREG0014066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	90	98					0	0	0.014410	0	0
SIMC1	375484	broad.mit.edu	37	5	175763763	175763763	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:175763763T>A	ENST00000443967.1	+	10	2562	c.2155T>A	c.(2155-2157)Tgc>Agc	p.C719S	SIMC1_ENST00000332772.4_Missense_Mutation_p.C180S|SIMC1_ENST00000341199.6_Missense_Mutation_p.C304S|SIMC1_ENST00000430704.2_Missense_Mutation_p.C304S					SUMO-interacting motifs containing 1																		CCTTCTGCGCTGCAAAGTGTT	0.473000													44	126					0	0	0.014410	0	0
RASGRF2	5924	broad.mit.edu	37	5	80409725	80409725	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:80409725G>A	ENST00000265080.4	+	15	2523	c.2456G>A	c.(2455-2457)cGa>cAa	p.R819Q	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	819					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AAGCTAAAACGAAGTATTCAA	0.488000													15	31					0	0	0.004990	0	0
OR5A1	219982	broad.mit.edu	37	11	59211401	59211401	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:59211401C>T	ENST00000302030.2	+	1	785	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GGTGACTCTGCTGTTTGGGAC	0.532000													93	134					0	0	0.014410	0	0
ENPEP	2028	broad.mit.edu	37	4	111474477	111474477	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:111474477G>A	ENST00000265162.5	+	18	2850	c.2508G>A	c.(2506-2508)ttG>ttA	p.L836L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	836					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TTAGGTATTTGGATTTGCTCA	0.348000													47	68					0	0	0.014410	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173882199	173882199	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:173882199C>T	ENST00000264111.6	+	21	2159	c.1972C>T	c.(1972-1974)Cag>Tag	p.Q658*	RAPGEF4_ENST00000397081.3_Nonsense_Mutation_p.Q659*|RAPGEF4_ENST00000397087.3_Nonsense_Mutation_p.Q515*|RAPGEF4_ENST00000540783.1_Nonsense_Mutation_p.Q506*|RAPGEF4_ENST00000409036.1_Nonsense_Mutation_p.Q659*|RAPGEF4_ENST00000535187.1_Nonsense_Mutation_p.Q439*|RAPGEF4_ENST00000539331.1_Nonsense_Mutation_p.Q506*|RAPGEF4_ENST00000538974.1_Nonsense_Mutation_p.Q488*			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	659					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TGAGAGAGCCCAGAAGCGCCA	0.468000													8	48					0	0	0.006214	0	0
BAGE2	85319	broad.mit.edu	37	21	11058330	11058330	+	RNA	SNP	G	G	A	rs138162498		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr21:11058330G>A	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCGCTGAAAGGGGTAAAGGA	0.378000													18	132					0	0	0.008871	0	0
SLC6A9	6536	broad.mit.edu	37	1	44476402	44476402	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:44476402C>T	ENST00000372310.3	-	3	348	c.183G>A	c.(181-183)ggG>ggA	p.G61G	SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000372307.3_5'UTR|SLC6A9_ENST00000372306.3_Silent_p.G61G|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000360584.2_Silent_p.G134G|SLC6A9_ENST00000492434.2_Intron|SLC6A9_ENST00000357730.2_Silent_p.G80G	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	134						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGGTACCTCCCCCGTTGCGAT	0.642000													15	50					0	0	0.003163	0	0
SLIT2	9353	broad.mit.edu	37	4	20620554	20620554	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:20620554C>T	ENST00000504154.1	+	37	4764	c.4512C>T	c.(4510-4512)ttC>ttT	p.F1504F	SLIT2_ENST00000273739.5_Silent_p.F1517F|SLIT2_ENST00000503823.1_Silent_p.F1496F|SLIT2_ENST00000503837.1_Silent_p.F1500F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1504	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.F1504F(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AATACTCTTTCGAATGCACTG	0.567000													18	38					0	0	0.008871	0	0
RAG2	5897	broad.mit.edu	37	11	36615100	36615100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:36615100G>A	ENST00000311485.3	-	2	780	c.619C>T	c.(619-621)Cat>Tat	p.H207Y		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	207					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				ATAGAGACATGAAAAGATAGC	0.423000									Familial Hemophagocytic Lymphohistiocytosis				37	66					0	0	0.005524	0	0
OR10C1	442194	broad.mit.edu	37	6	29407862	29407862	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:29407862G>A	ENST00000444197.2	+	1	780	c.70G>A	c.(70-72)Ggc>Agc	p.G24S	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G24N(1)|p.G24S(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CGACCTCCAGGGCTTGCTCTT	0.542000													99	20					0	0	0.014410	0	0
USH1C	10083	broad.mit.edu	37	11	17548347	17548347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:17548347C>T	ENST00000005226.7	-	7	531	c.532G>A	c.(532-534)Gag>Aag	p.E178K	USH1C_ENST00000318024.4_Missense_Mutation_p.E178K|USH1C_ENST00000527720.1_Missense_Mutation_p.E147K|USH1C_ENST00000527020.1_Missense_Mutation_p.E178K	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	178					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GTGAGGGGCTCATCAGGAGAG	0.552000													28	44					0	0	0.006320	0	0
SIGLEC12	89858	broad.mit.edu	37	19	51995021	51995021	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:51995021G>A	ENST00000291707.3	-	8	1717	c.1662C>T	c.(1660-1662)gcC>gcT	p.A554A	SIGLEC12_ENST00000598614.1_Silent_p.A436A	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	554					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGGAGGGGGTGGCCAGGGCTG	0.602000													20	65					0	0	0.010504	0	0
FAM184A	79632	broad.mit.edu	37	6	119297154	119297154	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:119297154C>T	ENST00000338891.7	-	12	2954	c.2511G>A	c.(2509-2511)cgG>cgA	p.R837R	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Silent_p.R837R|FAM184A_ENST00000352896.5_Silent_p.R717R|FAM184A_ENST00000368475.4_Silent_p.R717R	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	837										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GATGATTATGCCGTAACAAAT	0.383000													18	13					0	0	0.007413	0	0
TMEM175	84286	broad.mit.edu	37	4	949636	949636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:949636G>A	ENST00000264771.4	+	10	985	c.800G>A	c.(799-801)gGa>gAa	p.G267E	TMEM175_ENST00000515740.1_Missense_Mutation_p.G151E|TMEM175_ENST00000508204.1_Missense_Mutation_p.G185E	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	267						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TTCAGCGACGGAGTCTACGCC	0.622000													22	46					0	0	0.003330	0	0
OSBPL2	9885	broad.mit.edu	37	20	60856132	60856132	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:60856132C>T	ENST00000313733.3	+	8	895	c.693C>T	c.(691-693)acC>acT	p.T231T	OSBPL2_ENST00000439951.2_Silent_p.T139T|OSBPL2_ENST00000358053.2_Silent_p.T219T	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	231					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			AAGCCTACACCTGGACCAACC	0.532000													36	113					0	0	0.009718	0	0
NEIL1	79661	broad.mit.edu	37	15	75644680	75644680	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:75644680C>T	ENST00000564784.1	+	5	1199	c.570C>T	c.(568-570)ccC>ccT	p.P190P	NEIL1_ENST00000567959.1_3'UTR|NEIL1_ENST00000569035.1_Silent_p.P190P|NEIL1_ENST00000355059.4_Silent_p.P190P			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	190					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						AGATCCCCCCCTTTGAGAAGG	0.652000								Base excision repair (BER), DNA glycosylases					30	73					0	0	0.004878	0	0
GOLGB1	2804	broad.mit.edu	37	3	121411324	121411324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:121411324G>A	ENST00000393667.3	-	14	6997	c.6887C>T	c.(6886-6888)tCc>tTc	p.S2296F	GOLGB1_ENST00000340645.5_Missense_Mutation_p.S2291F	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2291					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTCTAGCTGGGACAAAAGTTC	0.448000													47	82					0	0	0.013114	0	0
DSP	1832	broad.mit.edu	37	6	7582885	7582885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:7582885G>A	ENST00000379802.3	+	24	5731	c.5390G>A	c.(5389-5391)aGg>aAg	p.R1797K	DSP_ENST00000418664.2_Missense_Mutation_p.R1198K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1797	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCATCTAATAGGATTCAGGAA	0.373000													41	79					0	0	0.005524	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													4	61					0	0	0.000602	0	0
CACNG3	10368	broad.mit.edu	37	16	24373177	24373177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:24373177C>T	ENST00000005284.3	+	4	2143	c.941C>T	c.(940-942)cCc>cTc	p.P314L		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	314					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P314H(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CGCACCACGCCCGTCTGAACT	0.552000													17	34					0	0	0.004990	0	0
CD6	923	broad.mit.edu	37	11	60777182	60777182	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:60777182G>A	ENST00000313421.7	+	5	1106	c.920G>A	c.(919-921)gGc>gAc	p.G307D	CD6_ENST00000344028.5_Missense_Mutation_p.G307D|CD6_ENST00000352009.5_Missense_Mutation_p.G307D|CD6_ENST00000545105.1_Intron|CD6_ENST00000452451.2_Missense_Mutation_p.G307D|CD6_ENST00000346437.4_Missense_Mutation_p.G307D	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	307	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CAGTCCTTGGGCTGTGGAACT	0.612000													22	41					0	0	0.012319	0	0
LRP3	4037	broad.mit.edu	37	19	33698225	33698225	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:33698225C>T	ENST00000253193.7	+	7	2259	c.2057C>T	c.(2056-2058)tCg>tTg	p.S686L		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	686					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CCCTTGCCCTCGGGCCTGCGA	0.701000													11	10					0	0	0.008291	0	0
ABCC9	10060	broad.mit.edu	37	12	21962820	21962820	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:21962820C>T	ENST00000261200.4	-	35	4280	c.4281G>A	c.(4279-4281)ctG>ctA	p.L1427L	ABCC9_ENST00000345162.2_Silent_p.L1391L|ABCC9_ENST00000261201.4_Silent_p.L1427L	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1427	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCATATTCTTCAGCTGAGCAA	0.333000													38	26					0	0	0.011902	0	0
FSIP2	401024	broad.mit.edu	37	2	186672991	186672991	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:186672991G>A	ENST00000343098.5	+	17	19225	c.19225G>A	c.(19225-19227)Gaa>Aaa	p.E6409K	FSIP2_ENST00000424728.1_Missense_Mutation_p.E6320K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAAAATTATGGAAAAAGTGAT	0.328000													11	28					0	0	0.008291	0	0
CCR2	729230	broad.mit.edu	37	3	46399710	46399710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:46399710G>A	ENST00000292301.4	+	2	1177	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	CCR2_ENST00000445132.2_Missense_Mutation_p.R231Q|CCR2_ENST00000400888.2_Missense_Mutation_p.R231Q|CCR2_ENST00000465202.1_3'UTR	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	231					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		ACCCTGCTTCGGTGTCGAAAC	0.453000													135	283					0	0	0.014410	0	0
OR1F1	4992	broad.mit.edu	37	16	3254843	3254843	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:3254843C>T	ENST00000304646.2	+	1	597	c.597C>T	c.(595-597)atC>atT	p.I199I	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						AGGTCATAATCCTTAGTGAGG	0.493000													42	46					0	0	0.010771	0	0
PLIN4	729359	broad.mit.edu	37	19	4510580	4510580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:4510580C>T	ENST00000301286.3	-	3	3349	c.3350G>A	c.(3349-3351)aGg>aAg	p.R1117K		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1117						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CGTGTCCTCCCTGCCTGGGGC	0.662000													11	12					0	0	0.010729	0	0
ZNF835	90485	broad.mit.edu	37	19	57175432	57175432	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:57175432G>A	ENST00000537055.2	-	2	1366	c.1135C>T	c.(1135-1137)Cag>Tag	p.Q379*		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGGCGGTGCTGGAGGAGGTGG	0.667000													18	20					0	0	0.004990	0	0
ACSM2A	123876	broad.mit.edu	37	16	20481027	20481027	+	Silent	SNP	C	C	T	rs145878643		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:20481027C>T	ENST00000573854.1	+	4	696	c.582C>T	c.(580-582)ttC>ttT	p.F194F	ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Silent_p.F194F|ACSM2A_ENST00000396104.2_Silent_p.F194F|ACSM2A_ENST00000219054.6_Silent_p.F194F|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Silent_p.F194F|ACSM2A_ENST00000417235.2_Silent_p.F115F	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	194					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGCTGAACTTCAAGAAACTAC	0.438000													34	139					0	0	0.012213	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957403	50957403	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:50957403G>A	ENST00000357701.5	+	17	1927	c.1876G>A	c.(1876-1878)Gag>Aag	p.E626K		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	626	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCCCGTCGGCGAGGACGTGGC	0.627000													13	15					0	0	0.001855	0	0
HIPK4	147746	broad.mit.edu	37	19	40886607	40886607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:40886607C>T	ENST00000291823.2	-	3	1575	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	431						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			AGACTCAGGTCATCCAGCTGG	0.627000													73	81					0	0	0.014410	0	0
C1orf173	127254	broad.mit.edu	37	1	75037536	75037536	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:75037536C>T	ENST00000326665.5	-	14	4076	c.3858G>A	c.(3856-3858)agG>agA	p.R1286R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1286	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCGCTTCCTCCCTGAACTTTT	0.567000													58	159					0	0	0.014410	0	0
SLC6A1	6529	broad.mit.edu	37	3	11064053	11064053	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:11064053G>A	ENST00000287766.4	+	7	1034	c.613G>A	c.(613-615)Gat>Aat	p.D205N	SLC6A1_ENST00000536032.1_Missense_Mutation_p.D27N	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	205					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GGACGGGCTGGATAAGCCAGG	0.582000													10	18					0	0	0.001855	0	0
DNAH7	56171	broad.mit.edu	37	2	196722390	196722390	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:196722390C>A	ENST00000312428.6	-	44	8225	c.8125G>T	c.(8125-8127)Gaa>Taa	p.E2709*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2709	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATATAGCTTCCATAACAAGC	0.383000													19	17					1.96292e-10	2.02253e-10	0.010504	1	0
CACNA2D4	93589	broad.mit.edu	37	12	1983818	1983818	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:1983818C>T	ENST00000382722.5	-	18	2192	c.1830G>A	c.(1828-1830)agG>agA	p.R610R	CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Silent_p.R610R|CACNA2D4_ENST00000585708.1_Silent_p.R546R|CACNA2D4_ENST00000587995.1_Silent_p.R585R|CACNA2D4_ENST00000588077.1_Silent_p.R546R	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	610						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TACCTGTTTCCCTATTGATCA	0.473000													5	34					0	0	0.001168	0	0
CTNND2	1501	broad.mit.edu	37	5	11236868	11236868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:11236868C>T	ENST00000304623.8	-	10	1885	c.1696G>A	c.(1696-1698)Gtc>Atc	p.V566I	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.V229I|CTNND2_ENST00000458100.2_Missense_Mutation_p.V133I|CTNND2_ENST00000359640.2_Missense_Mutation_p.V566I|CTNND2_ENST00000511377.1_Missense_Mutation_p.V475I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	566					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTAGACTGGACCGAGGGAAAC	0.483000													18	109					0	0	0.006122	0	0
FAM200A	221786	broad.mit.edu	37	7	99145873	99145873	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:99145873G>A	ENST00000449309.1	-	2	537	c.158C>T	c.(157-159)tCt>tTt	p.S53F		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	53						integral to membrane	nucleic acid binding	p.S53F(1)		endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						catagttgtagagcgactgag	0.408000													15	19					0	0	0.002450	0	0
CFTR	1080	broad.mit.edu	37	7	117267580	117267580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:117267580G>A	ENST00000003084.6	+	22	3605	c.3473G>A	c.(3472-3474)cGa>cAa	p.R1158Q	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.R1097Q	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1158					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTTCAGATGCGATCTGTGAGC	0.343000									Cystic Fibrosis				20	33					0	0	0.008871	0	0
C19orf59	199675	broad.mit.edu	37	19	7743386	7743386	+	Missense_Mutation	SNP	C	C	T	rs139191722		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:7743386C>T	ENST00000333598.3	+	5	837	c.383C>T	c.(382-384)tCc>tTc	p.S128F	CTD-3214H19.16_ENST00000597959.1_Intron|C19orf59_ENST00000597445.1_Missense_Mutation_p.S85F	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN	chromosome 19 open reading frame 59	128						integral to membrane		p.S128F(1)		endometrium(1)|lung(2)|skin(1)|stomach(1)	5						GTCTCAAACTCCGTACAAGCA	0.547000											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	56					0	0	0.001855	0	0
C1orf65	164127	broad.mit.edu	37	1	223567444	223567444	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:223567444C>T	ENST00000366875.3	+	1	730	c.627C>T	c.(625-627)gcC>gcT	p.A209A		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	209										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCGTGTGCGCCCAGAAGAGAG	0.622000													37	70					0	0	0.009718	0	0
KRT84	3890	broad.mit.edu	37	12	52779113	52779113	+	Missense_Mutation	SNP	C	C	T	rs145766018	byFrequency	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:52779113C>T	ENST00000257951.3	-	1	323	c.257G>A	c.(256-258)gGt>gAt	p.G86D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	86	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCACCAAAACCCATCCCACA	0.592000													45	49					0	0	0.014410	0	0
IQCB1	9657	broad.mit.edu	37	3	121489364	121489364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:121489364G>A	ENST00000310864.6	-	15	1839	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F	IQCB1_ENST00000349820.6_Missense_Mutation_p.S409F	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	542					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		CACAGGCCTGGATCTACTTAG	0.507000													112	142					0	0	0.014410	0	0
MMP25	64386	broad.mit.edu	37	16	3097455	3097455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:3097455C>T	ENST00000336577.4	+	2	376	c.139C>T	c.(139-141)Cct>Tct	p.P47S		NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	47				P -> R (in Ref. 3; BAB20584).	inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						GCCACCCCACCCTGCCCAGGC	0.652000													42	52					0	0	0.014410	0	0
CALCRL	10203	broad.mit.edu	37	2	188225374	188225374	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:188225374G>A	ENST00000409998.1	-	11	1513	c.732C>T	c.(730-732)gcC>gcT	p.A244A	CALCRL_ENST00000392370.3_Silent_p.A244A|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Silent_p.A244A|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	244						integral to plasma membrane		p.A244A(1)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CTGCAAACACGGCCACCACAA	0.398000													10	38					0	0	0.010729	0	0
MXRA5	25878	broad.mit.edu	37	X	3228207	3228207	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:3228207C>T	ENST00000217939.6	-	7	8191	c.8037G>A	c.(8035-8037)ctG>ctA	p.L2679L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2679	Ig-like C2-type 11.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGGGGCCCTCCAGATGCATGC	0.607000													49	17					0	0	0.014410	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118359630	118359630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:118359630G>A	ENST00000528052.1	+	9	957	c.886G>A	c.(886-888)Gat>Aat	p.D296N	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.D296N|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.D296N			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	296					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CCTCAATCCCGATGGGTTTGC	0.483000													42	49					0	0	0.007835	0	0
GRB14	2888	broad.mit.edu	37	2	165476206	165476206	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:165476206C>T	ENST00000263915.3	-	2	853	c.315G>A	c.(313-315)agG>agA	p.R105R		NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	105					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						CCTGTTTTTTCCTTGAATTTG	0.343000													38	29					0	0	0.008740	0	0
LRCH4	4034	broad.mit.edu	37	7	100179448	100179448	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:100179448G>A	ENST00000310300.6	-	4	602	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	184					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGTCCCGCAGGGAAGAGAGG	0.587000													28	46					0	0	0.006320	0	0
LYZL6	57151	broad.mit.edu	37	17	34263826	34263826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:34263826G>A	ENST00000585556.1	-	4	644	c.310C>T	c.(310-312)Ccc>Tcc	p.P104S	LYZL6_ENST00000394523.3_Missense_Mutation_p.P104S|LYZL6_ENST00000293274.4_Missense_Mutation_p.P104S			O75951	LYZL6_HUMAN	lysozyme-like 6	104					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGAAGGTTGGGATTCAGCAGA	0.572000													23	25					0	0	0.007291	0	0
CREBBP	1387	broad.mit.edu	37	16	3795308	3795308	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:3795308A>G	ENST00000262367.5	-	22	4693	c.3884T>C	c.(3883-3885)gTt>gCt	p.V1295A	CREBBP_ENST00000382070.3_Missense_Mutation_p.V1257A	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1295	Cys/His-rich.				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)		ATAGTGCAGAACGCAAATCTG	0.542000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						7	25					0	0	0.003080	0	0
TP53BP2	7159	broad.mit.edu	37	1	223983600	223983600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:223983600G>A	ENST00000391878.2	-	14	3022	c.2254C>T	c.(2254-2256)Cca>Tca	p.P752S	TP53BP2_ENST00000391879.2_Missense_Mutation_p.P114S|TP53BP2_ENST00000343537.7_Missense_Mutation_p.P881S|TP53BP2_ENST00000498843.1_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	875					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	p.P752L(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TCCCCAGATGGGTATGGTGGG	0.557000													50	57					0	0	0.014410	0	0
MYCBP2	23077	broad.mit.edu	37	13	77663163	77663163	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:77663163A>G	ENST00000407578.2	-	61	10795	c.10529T>C	c.(10528-10530)gTt>gCt	p.V3510A	MYCBP2_ENST00000357337.6_Missense_Mutation_p.V3472A|MYCBP2_ENST00000544440.2_Missense_Mutation_p.V3472A|MYCBP2-AS1_ENST00000593933.1_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3472					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)		GGAAGAACCAACTTCTATTAA	0.348000													12	33					0	0	0.010729	0	0
FCGBP	8857	broad.mit.edu	37	19	40364436	40364436	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:40364436C>T	ENST00000221347.6	-	31	14214		c.e31-1			NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein							extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACTGCAAGGCTGTGGGGACA	0.632000													9	31					0	0	0.004482	0	0
COL6A6	131873	broad.mit.edu	37	3	130284118	130284118	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:130284118G>A	ENST00000358511.6	+	3	973	c.942G>A	c.(940-942)aaG>aaA	p.K314K	COL6A6_ENST00000453409.2_Silent_p.K314K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	314	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCATCAAAAAGCTCAGGAAGG	0.507000													63	110					0	0	0.014410	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540335	96540335	+	Silent	SNP	C	C	T	rs145272564		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:96540335C>T	ENST00000371321.3	+	4	643	c.561C>T	c.(559-561)ttC>ttT	p.F187F	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	187					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AGAAACGTTTCGATTATAAAG	0.403000													38	35					0	0	0.004289	0	0
IQSEC3	440073	broad.mit.edu	37	12	283825	283825	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:283825G>A	ENST00000538872.1	+	14	3293	c.3175G>A	c.(3175-3177)Gga>Aga	p.G1059R	IQSEC3_ENST00000537151.1_3'UTR|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.G1059R			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1059					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GGCCGAGAGGGGAGCGCCGGT	0.647000													7	12					0	0	0.001984	0	0
GRIK4	2900	broad.mit.edu	37	11	120852850	120852850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:120852850G>A	ENST00000527524.2	+	20	2718	c.2431G>A	c.(2431-2433)Gtt>Att	p.V811I	GRIK4_ENST00000438375.2_Missense_Mutation_p.V811I			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	811					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	AATCTTTGTGGTTCTTATTTG	0.368000													81	109					0	0	0.014410	0	0
DNAH6	1768	broad.mit.edu	37	2	84784977	84784977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:84784977G>A	ENST00000389394.3	+	11	1858	c.1721G>A	c.(1720-1722)gGa>gAa	p.G574E	DNAH6_ENST00000398278.2_Missense_Mutation_p.G574E|DNAH6_ENST00000237449.6_Missense_Mutation_p.G574E	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	574	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AAACTTGAAGGAAAAACCTGT	0.358000													47	43					0	0	0.011902	0	0
GLI3	2737	broad.mit.edu	37	7	42065834	42065834	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:42065834G>A	ENST00000395925.3	-	8	1290	c.1206C>T	c.(1204-1206)ccC>ccT	p.P402P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	402					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGACCTGGACGGGGTTCAGAA	0.627000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				7	27					0	0	0.003080	0	0
GPR20	2843	broad.mit.edu	37	8	142367271	142367271	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:142367271G>A	ENST00000377741.3	-	2	843	c.753C>T	c.(751-753)ctC>ctT	p.L251L		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	251						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			TGAAGCAGACGAGAAAGATGA	0.677000													8	12					0	0	0.004482	0	0
SNAP91	9892	broad.mit.edu	37	6	84292025	84292025	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:84292025G>A	ENST00000428679.2	-	23	2658	c.2065C>T	c.(2065-2067)Cag>Tag	p.Q689*	SNAP91_ENST00000520213.1_Nonsense_Mutation_p.Q382*|SNAP91_ENST00000195649.6_Nonsense_Mutation_p.Q689*|SNAP91_ENST00000521743.1_Nonsense_Mutation_p.Q689*|SNAP91_ENST00000520302.1_Nonsense_Mutation_p.Q659*|SNAP91_ENST00000437520.1_Nonsense_Mutation_p.Q382*|SNAP91_ENST00000369694.2_Nonsense_Mutation_p.Q689*|SNAP91_ENST00000521485.1_Nonsense_Mutation_p.Q689*|SNAP91_ENST00000439399.2_Nonsense_Mutation_p.Q689*			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	689					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGGTTATTCTGAGCTGGAGTC	0.463000													26	13					0	0	0.003330	0	0
PRKDC	5591	broad.mit.edu	37	8	48690306	48690306	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:48690306G>A	ENST00000314191.2	-	85	12036	c.11980C>T	c.(11980-11982)Cct>Tct	p.P3994S	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.P3963S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3995	PI3K/PI4K.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGCAGGCCAGGGTCTGAGCGG	0.478000								Non-homologous end-joining					84	130					0	0	0.014410	0	0
GSN	2934	broad.mit.edu	37	9	124094751	124094751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:124094751G>A	ENST00000373823.3	+	25	2971	c.2066G>A	c.(2065-2067)cGg>cAg	p.R689Q	GSN_ENST00000373806.1_Missense_Mutation_p.R165Q|GSN_ENST00000373808.2_Missense_Mutation_p.R689Q|GSN_ENST00000412819.1_Missense_Mutation_p.R689Q|GSN_ENST00000449733.1_Missense_Mutation_p.R689Q|GSN_ENST00000545652.1_Missense_Mutation_p.R697Q|GSN_ENST00000436847.1_Missense_Mutation_p.R700Q|GSN_ENST00000341272.2_Missense_Mutation_p.R689Q|GSN_ENST00000394353.2_Missense_Mutation_p.R700Q|GSN_ENST00000373818.4_Missense_Mutation_p.R740Q			P06396	GELS_HUMAN	gelsolin	740	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						AATCGGGATCGGCGGACGCCC	0.577000											OREG0019445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	30					0	0	0.007291	0	0
DNAH7	56171	broad.mit.edu	37	2	196729521	196729521	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:196729521G>A	ENST00000312428.6	-	41	6958	c.6858C>T	c.(6856-6858)atC>atT	p.I2286I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2286					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCACATCTGCGATTTCTCTGT	0.378000													70	79					0	0	0.014410	0	0
CCDC97	90324	broad.mit.edu	37	19	41822684	41822684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:41822684C>T	ENST00000269967.3	+	2	564	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	148										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						TGCCCGGCCCCGCACCCTGCG	0.677000													29	37					0	0	0.003755	0	0
ZNF385D	79750	broad.mit.edu	37	3	21706440	21706440	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:21706440G>C	ENST00000281523.2	-	2	621	c.103C>G	c.(103-105)Cca>Gca	p.P35A	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	35						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGAAGAAATGGTTTAATATCC	0.517000													23	36					0	0	0.012319	0	0
C3orf20	84077	broad.mit.edu	37	3	14724232	14724232	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:14724232C>T	ENST00000253697.3	+	3	464	c.12C>T	c.(10-12)atC>atT	p.I4I	C3orf20_ENST00000412910.1_Intron|C3orf20_ENST00000435614.1_Intron	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	4						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TGAGTTACATCAAGAGTAACC	0.483000													79	104					0	0	0.014410	0	0
PCNXL2	80003	broad.mit.edu	37	1	233363099	233363099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:233363099C>T	ENST00000258229.8	-	10	2611	c.2377G>A	c.(2377-2379)Gaa>Aaa	p.E793K	PCNXL2_ENST00000430153.1_Missense_Mutation_p.E92K	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	793						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GACGAGGCTTCCAGATCCTGA	0.363000													27	29					0	0	0.007291	0	0
FER1L6	654463	broad.mit.edu	37	8	125052191	125052191	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:125052191G>A	ENST00000522917.1	+	20	2739	c.2533G>A	c.(2533-2535)Gga>Aga	p.G845R	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.G845R|RP11-959I15.4_ENST00000522005.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	845	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGACAGCAATGGACTTTCAGA	0.522000													49	73					0	0	0.014410	0	0
PEX5	5830	broad.mit.edu	37	12	7362645	7362645	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:7362645C>T	ENST00000266563.5	+	15	1818	c.1635C>T	c.(1633-1635)gcC>gcT	p.A545A	PEX5_ENST00000434354.2_Silent_p.A597A|PEX5_ENST00000266564.3_Silent_p.A574A|PEX5_ENST00000420616.2_Silent_p.A582A|PEX5_ENST00000455147.2_Silent_p.A582A|PEX5_ENST00000412720.2_Silent_p.A603A	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	582					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TTCTGGAGGCCCTGAACATGC	0.557000													6	32					0	0	0.001984	0	0
ZNF556	80032	broad.mit.edu	37	19	2878125	2878125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:2878125G>A	ENST00000586426.1	+	4	1253	c.1166G>A	c.(1165-1167)aGa>aAa	p.R389K	ZNF556_ENST00000307635.2_Missense_Mutation_p.R390K			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAACATGAGAGAAAGCACACT	0.443000													14	53					0	0	0.002450	0	0
GABRA4	2557	broad.mit.edu	37	4	46994906	46994906	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:46994906G>A	ENST00000264318.3	-	2	1126	c.144C>T	c.(142-144)ttC>ttT	p.F48F	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	48					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGATGCGGGTGAAATTTTCTG	0.468000													26	50					0	0	0.005443	0	0
CLN8	2055	broad.mit.edu	37	8	1728417	1728417	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:1728417C>T	ENST00000331222.4	+	3	792	c.543_splice	c.e3-1	p.A182_splice	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	182	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TCCATGCAGGCGGGCTGGTCC	0.453000													23	61					0	0	0.003954	0	0
EMR3	84658	broad.mit.edu	37	19	14772913	14772913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:14772913G>A	ENST00000253673.5	-	4	317	c.217C>T	c.(217-219)Cca>Tca	p.P73S	EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000443157.2_Intron|EMR3_ENST00000344373.4_Intron	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	73	EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CTATAGGGTGGTGTACATTCA	0.398000													22	30					0	0	0.003330	0	0
TACC3	10460	broad.mit.edu	37	4	1746492	1746492	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:1746492C>T	ENST00000313288.4	+	15	2490	c.2384C>T	c.(2383-2385)gCc>gTc	p.A795V		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	795						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GAAGCGTTGGCCCTCCAGGCC	0.682000													18	36					0	0	0.006122	0	0
STXBP2	6813	broad.mit.edu	37	19	7712250	7712250	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:7712250G>C	ENST00000441779.2	+	18	1619	c.1582G>C	c.(1582-1584)Ggt>Cgt	p.G528R	STXBP2_ENST00000602355.1_Missense_Mutation_p.G52R|STXBP2_ENST00000221283.5_Missense_Mutation_p.G517R|STXBP2_ENST00000414284.2_Missense_Mutation_p.G514R	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	517					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGCCCGCTTCGGTCACTGGCA	0.687000													8	82					0	0	0.004482	0	0
GPR112	139378	broad.mit.edu	37	X	135427486	135427486	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:135427486G>A	ENST00000394143.1	+	6	1912	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	GPR112_ENST00000287534.4_Missense_Mutation_p.E478K|GPR112_ENST00000412101.1_Missense_Mutation_p.E336K|GPR112_ENST00000394141.1_Missense_Mutation_p.E336K|GPR112_ENST00000370652.1_Missense_Mutation_p.E541K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	541					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCCAGAGTGGAAGATGCCAT	0.438000													40	10					0	0	0.006999	0	0
TRPV5	56302	broad.mit.edu	37	7	142625848	142625848	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:142625848G>A	ENST00000265310.1	-	6	1048	c.700C>T	c.(700-702)Ctt>Ttt	p.L234F	TRPV5_ENST00000442623.1_Missense_Mutation_p.L234F	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	234					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TTGGGCACAAGGTCCAGGGGC	0.562000													19	45					0	0	0.007413	0	0
ZNF623	9831	broad.mit.edu	37	8	144732412	144732412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:144732412C>T	ENST00000501748.2	+	1	459	c.370C>T	c.(370-372)Cct>Tct	p.P124S	ZNF623_ENST00000458270.2_Missense_Mutation_p.P84S|ZNF623_ENST00000526926.1_Missense_Mutation_p.P84S	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGAAGCCAATCCTTGCAATAT	0.478000													42	104					0	0	0.014410	0	0
HELZ2	85441	broad.mit.edu	37	20	62196988	62196988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:62196988G>A	ENST00000467148.1	-	8	3256	c.3187C>T	c.(3187-3189)Ccg>Tcg	p.P1063S	HELZ2_ENST00000427522.2_Missense_Mutation_p.P494S	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CCGTCCCACGGCCAGAAGTCA	0.672000													42	20					0	0	0.007835	0	0
E2F2	1870	broad.mit.edu	37	1	23850887	23850887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:23850887G>A	ENST00000361729.2	-	2	772	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	116					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTGGGGCTGGGGAGGCCATCC	0.612000													15	31					0	0	0.002450	0	0
COL5A1	1289	broad.mit.edu	37	9	137658318	137658318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:137658318G>A	ENST00000371817.3	+	22	2521	c.2107G>A	c.(2107-2109)Ggc>Agc	p.G703S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	703	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGTATGGACGGCCAGCCGGG	0.542000													3	33					0	0	0.009096	0	0
RHBG	57127	broad.mit.edu	37	1	156351864	156351864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:156351864C>T	ENST00000537040.1	+	4	520	c.482C>T	c.(481-483)tCc>tTc	p.S161F	RHBG_ENST00000368249.1_Silent_p.I328I|RHBG_ENST00000255013.3_Silent_p.I259I|RHBG_ENST00000400992.2_Silent_p.I296I|RHBG_ENST00000368246.2_Silent_p.I328I|RHBG_ENST00000451864.2_Silent_p.I250I			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	0					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCCAGCCCATCCTTGAATCAA	0.577000													21	93					0	0	0.012319	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967565	48967565	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:48967565C>T	ENST00000391884.1	+	2	1318	c.842C>T	c.(841-843)gCc>gTc	p.A281V	KCNJ14_ENST00000342291.2_Missense_Mutation_p.A281V			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	281						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		ATCGACTCTGCCAGTCCTCTG	0.582000													9	6					0	0	0.004482	0	0
DOCK3	1795	broad.mit.edu	37	3	51352508	51352508	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:51352508C>T	ENST00000266037.9	+	32	3374	c.3351C>T	c.(3349-3351)atC>atT	p.I1117I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1117						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGATTCCCATCTTTCATGACA	0.463000													25	52					0	0	0.003954	0	0
GIPC1	10755	broad.mit.edu	37	19	14593660	14593660	+	Silent	SNP	G	G	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:14593660G>C	ENST00000393033.4	-	4	398	c.129C>G	c.(127-129)ccC>ccG	p.P43P	GIPC1_ENST00000393029.3_Intron|GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000586027.1_Silent_p.P43P|GIPC1_ENST00000591349.1_Intron|GIPC1_ENST00000345425.2_Silent_p.P43P	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	43					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						AGCCCATTTGGGGGCCCCCCG	0.726000													5	7					0	0	0.003080	0	0
CFH	3075	broad.mit.edu	37	1	196694292	196694292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:196694292C>T	ENST00000367429.4	+	12	1978	c.1738C>T	c.(1738-1740)Cct>Tct	p.P580S		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	580	Sushi 10.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACACTTAGTTCCTGATCGCAA	0.338000													10	38					0	0	0.006214	0	0
CACNA1E	777	broad.mit.edu	37	1	181705457	181705457	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:181705457G>A	ENST00000526775.1	+	21	3417	c.3252G>A	c.(3250-3252)gaG>gaA	p.E1084E	CACNA1E_ENST00000367573.2_Silent_p.E1103E|CACNA1E_ENST00000357570.5_Silent_p.E1054E|CACNA1E_ENST00000360108.3_Silent_p.E1084E|CACNA1E_ENST00000367570.1_Silent_p.E1103E|CACNA1E_ENST00000367567.4_Silent_p.E710E|CACNA1E_ENST00000358338.5_Silent_p.E1035E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1103					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGAGGCAGAGATCAGAgagg	0.498000													9	7					0	0	0.004482	0	0
PEX5	5830	broad.mit.edu	37	12	7362646	7362646	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:7362646C>T	ENST00000266563.5	+	15	1819	c.1636C>T	c.(1636-1638)Ctg>Ttg	p.L546L	PEX5_ENST00000434354.2_Silent_p.L598L|PEX5_ENST00000266564.3_Silent_p.L575L|PEX5_ENST00000420616.2_Silent_p.L583L|PEX5_ENST00000455147.2_Silent_p.L583L|PEX5_ENST00000412720.2_Silent_p.L604L	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	583					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TCTGGAGGCCCTGAACATGCA	0.552000													6	33					0	0	0.001984	0	0
TMEM132E	124842	broad.mit.edu	37	17	32953158	32953158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:32953158C>T	ENST00000321639.5	+	2	408	c.80C>T	c.(79-81)tCc>tTc	p.S27F		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	27						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCTGGCCGCTCCCACCCGGCC	0.736000													4	1					0	0	0.001168	0	0
CTIF	9811	broad.mit.edu	37	18	46284619	46284619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr18:46284619C>T	ENST00000256413.3	+	8	1209	c.914C>T	c.(913-915)cCg>cTg	p.P305L	CTIF_ENST00000382998.4_Missense_Mutation_p.P305L	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	305	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						ACCCTGGCCCCGGTGGCTTCT	0.637000													61	28					0	0	0.014410	0	0
NRF1	4899	broad.mit.edu	37	7	129348999	129348999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:129348999C>T	ENST00000393232.1	+	6	808	c.691C>T	c.(691-693)Ccc>Tcc	p.P231S	NRF1_ENST00000539636.1_Missense_Mutation_p.P70S|NRF1_ENST00000311967.2_Missense_Mutation_p.P231S|NRF1_ENST00000393231.3_Missense_Mutation_p.P231S|NRF1_ENST00000223190.4_Missense_Mutation_p.P231S|NRF1_ENST00000353868.4_Missense_Mutation_p.P231S|NRF1_ENST00000393230.2_Missense_Mutation_p.P231S	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	231					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						AAGCTGCAAGCCCATCTGGTG	0.547000													96	157					0	0	0.014410	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907791	12907791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:12907791C>T	ENST00000317869.6	-	2	577	c.352G>A	c.(352-354)Gat>Aat	p.D118N		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCATAATAATCCCGTTGAAAG	0.507000													46	51					0	0	0.011902	0	0
HIVEP1	3096	broad.mit.edu	37	6	12124989	12124989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:12124989C>T	ENST00000379388.2	+	4	5293	c.4961C>T	c.(4960-4962)tCc>tTc	p.S1654F		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1654					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACACTCACATCCCTGCCACAA	0.478000													42	108					0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9045944	9045944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:9045944G>A	ENST00000397910.4	-	5	35890	c.35687C>T	c.(35686-35688)tCc>tTc	p.S11896F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11898	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACAGCAGGGGAAACAGTCAG	0.488000													60	68					0	0	0.014410	0	0
ATP10D	57205	broad.mit.edu	37	4	47538862	47538862	+	Missense_Mutation	SNP	C	C	G	rs150738679		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:47538862C>G	ENST00000273859.3	+	9	1572	c.1303C>G	c.(1303-1305)Ctc>Gtc	p.L435V	ATP10D_ENST00000504445.1_Missense_Mutation_p.L420V	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	435					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GATTCAGTACCTCTTTTCCGA	0.418000													16	32					0	0	0.003163	0	0
HELZ2	85441	broad.mit.edu	37	20	62196987	62196987	+	Missense_Mutation	SNP	G	G	A	rs144293106		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:62196987G>A	ENST00000467148.1	-	8	3257	c.3188C>T	c.(3187-3189)cCg>cTg	p.P1063L	HELZ2_ENST00000427522.2_Missense_Mutation_p.P494L	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CCCGTCCCACGGCCAGAAGTC	0.677000													42	20					0	0	0.006999	0	0
GMCL1	64395	broad.mit.edu	37	2	70096880	70096880	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:70096880C>T	ENST00000282570.3	+	12	1499	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	416					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						GTTTTAACTTCGGCTTCGACC	0.358000													25	56					0	0	0.008361	0	0
HNF4G	3174	broad.mit.edu	37	8	76465340	76465340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:76465340G>A	ENST00000396423.2	+	5	647	c.523G>A	c.(523-525)Gat>Aat	p.D175N	HNF4G_ENST00000354370.1_Missense_Mutation_p.D138N	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	138					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AAGTATTGGTGATGTCTGTGA	0.363000													25	51					0	0	0.003954	0	0
FCRL5	83416	broad.mit.edu	37	1	157516931	157516931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:157516931C>T	ENST00000361835.3	-	3	266	c.109G>A	c.(109-111)Gga>Aga	p.G37R	FCRL5_ENST00000368189.3_Missense_Mutation_p.G37R|FCRL5_ENST00000368188.2_Missense_Mutation_p.G37R|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000356953.4_Missense_Mutation_p.G37R|FCRL5_ENST00000368190.3_Missense_Mutation_p.G37R	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	37	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACTCTCTCTCCTTGGAAGACT	0.493000													31	104					0	0	0.010818	0	0
AK5	26289	broad.mit.edu	37	1	78001663	78001663	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:78001663C>T	ENST00000344720.5	+	13	2508	c.1482C>T	c.(1480-1482)gcC>gcT	p.A494A	AK5_ENST00000354567.2_Silent_p.A520A|AK5_ENST00000478255.1_Silent_p.A35A	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	520					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GCCTAGAAGCCTACTACCGAG	0.567000													23	39					0	0	0.005443	0	0
CASP7	840	broad.mit.edu	37	10	115480927	115480927	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:115480927G>A	ENST00000369321.2	+	4	666	c.346_splice	c.e4+1	p.G116_splice	CASP7_ENST00000369318.3_Splice_Site_p.G83_splice|CASP7_ENST00000345633.4_Splice_Site_p.G83_splice|CASP7_ENST00000369315.1_Splice_Site_p.G83_splice|CASP7_ENST00000369331.4_Splice_Site_p.G83_splice|CASP7_ENST00000452490.2_Splice_Site_p.G58_splice|CASP7_ENST00000468790.1_3'UTR	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	83					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		TAAAGTGACAGGTGGGTGTGT	0.448000													19	24					0	0	0.008871	0	0
TMC2	117532	broad.mit.edu	37	20	2591212	2591212	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:2591212C>T	ENST00000358864.1	+	12	1576	c.1561C>T	c.(1561-1563)Ctc>Ttc	p.L521F	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	521						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTACACATTTCTCTTGGCCCT	0.502000													15	59					0	0	0.002450	0	0
EML5	161436	broad.mit.edu	37	14	89220907	89220907	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr14:89220907C>T	ENST00000554922.1	-	2	554	c.306G>A	c.(304-306)aaG>aaA	p.K102K	EML5_ENST00000352093.5_Silent_p.K102K|EML5_ENST00000380664.5_Silent_p.K102K	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	102						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TATGAACATCCTTTAAAACTG	0.368000													15	12					0	0	0.004990	0	0
GRID2	2895	broad.mit.edu	37	4	94436462	94436462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:94436462C>T	ENST00000282020.4	+	13	2351	c.2093C>T	c.(2092-2094)cCt>cTt	p.P698L	GRID2_ENST00000510992.1_Missense_Mutation_p.P603L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	698					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGACTGAATCCTTTTGAGAGG	0.483000													33	36					0	0	0.003271	0	0
ADAM28	10863	broad.mit.edu	37	8	24209517	24209517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:24209517C>T	ENST00000397649.3	+	21	2343	c.1441C>T	c.(1441-1443)Cca>Tca	p.P481S	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000265769.4_Silent_p.P732P|RP11-624C23.1_ENST00000523700.1_RNA			Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	0	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGATGAAGCCCCATGTGTATG	0.373000													25	46					0	0	0.007291	0	0
PC	5091	broad.mit.edu	37	11	66639329	66639329	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:66639329G>A	ENST00000393960.1	-	5	431	c.150C>T	c.(148-150)atC>atT	p.I50I	PC_ENST00000355677.3_Silent_p.I50I|PC_ENST00000393955.2_Silent_p.I50I|PC_ENST00000524491.1_Silent_p.I10I|PC_ENST00000393958.2_Silent_p.I50I	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	50	Biotin carboxylation.				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)	GGAACACACGGATGGCAATCT	0.582000													6	15					0	0	0.001984	0	0
CHD5	26038	broad.mit.edu	37	1	6203900	6203900	+	Missense_Mutation	SNP	C	C	T	rs142551574	by1000genomes	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:6203900C>T	ENST00000262450.3	-	13	2125	c.2026G>A	c.(2026-2028)Gac>Aac	p.D676N	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	676					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ATGGGCGTGTCCGGCGGCTTC	0.627000													50	60					0	0	0.014410	0	0
OSBPL6	114880	broad.mit.edu	37	2	179238671	179238671	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:179238671A>G	ENST00000190611.4	+	15	1826	c.1450A>G	c.(1450-1452)Agc>Ggc	p.S484G	OSBPL6_ENST00000315022.2_Missense_Mutation_p.S488G|OSBPL6_ENST00000409631.1_Missense_Mutation_p.S448G|OSBPL6_ENST00000409045.3_Missense_Mutation_p.S453G|OSBPL6_ENST00000392505.2_Missense_Mutation_p.S509G|OSBPL6_ENST00000359685.3_Missense_Mutation_p.S448G|OSBPL6_ENST00000357080.4_Missense_Mutation_p.S417G	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	484					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGCCAATGAGAGCCGCCTCTC	0.483000													4	67					0	0	0.009096	0	0
ZAN	7455	broad.mit.edu	37	7	100349677	100349677	+	RNA	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:100349677C>T	ENST00000542585.1	+	0	2097				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCACCATTTCCACAGAAAAA	0.522000													17	28					0	0	0.004990	0	0
TG	7038	broad.mit.edu	37	8	134025976	134025976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:134025976C>T	ENST00000220616.4	+	37	6569	c.6529C>T	c.(6529-6531)Cgt>Tgt	p.R2177C	TG_ENST00000377869.1_Missense_Mutation_p.R2120C|TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Missense_Mutation_p.R310C|TG_ENST00000542445.1_Missense_Mutation_p.R547C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2177					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.R2177C(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACTTCTGCTTCGTGAAGAGGC	0.527000													15	20					0	0	0.003163	0	0
FAM120C	54954	broad.mit.edu	37	X	54161465	54161465	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:54161465G>A	ENST00000375180.2	-	7	1471	c.1415C>T	c.(1414-1416)tCc>tTc	p.S472F	FAM120C_ENST00000328235.4_Missense_Mutation_p.S472F	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	472										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CAAAGCATGGGAGGAGAAGAG	0.488000													18	4					0	0	0.007413	0	0
MPP6	51678	broad.mit.edu	37	7	24663358	24663358	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:24663358C>T	ENST00000396475.2	+	3	371	c.72C>T	c.(70-72)ttC>ttT	p.F24F	MPP6_ENST00000222644.4_Silent_p.F24F|MPP6_ENST00000409761.1_Intron	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	24	L27 1.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ACCTAATTTTCCTCAAGGGAA	0.348000													20	51					0	0	0.014323	0	0
SNTG2	54221	broad.mit.edu	37	2	1168793	1168793	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:1168793C>T	ENST00000308624.5	+	8	644	c.515C>T	c.(514-516)tCc>tTc	p.S172F	SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	172					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCAGGGCCATCCAGCGACCAC	0.507000													56	102					0	0	0.014410	0	0
CNGB3	54714	broad.mit.edu	37	8	87679166	87679166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:87679166C>T	ENST00000320005.5	-	6	886	c.839G>A	c.(838-840)gGa>gAa	p.G280E		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	280					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TATGTCTCCTCCTCTTACAAA	0.383000													18	27					0	0	0.006122	0	0
LRG1	116844	broad.mit.edu	37	19	4538414	4538414	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:4538414G>A	ENST00000306390.6	-	2	1042	c.582C>T	c.(580-582)gaC>gaT	p.D194D	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	194						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCCCCAAGGTCAAGGGTGC	0.597000													64	174					0	0	0.014410	0	0
ZNF552	79818	broad.mit.edu	37	19	58319784	58319784	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:58319784A>C	ENST00000391701.1	-	3	1017	c.848T>G	c.(847-849)cTc>cGc	p.L283R	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GTGTACAAGGAGGTGGGACTT	0.408000													12	37					0	0	0.001855	0	0
RTTN	25914	broad.mit.edu	37	18	67843921	67843921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr18:67843921G>A	ENST00000255674.6	-	11	1752	c.1466C>T	c.(1465-1467)cCt>cTt	p.P489L	RTTN_ENST00000437017.1_Missense_Mutation_p.P489L|RTTN_ENST00000454359.1_Missense_Mutation_p.P489L	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	489							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTTTTCAACAGGGAGAAGCGT	0.423000													32	24					0	0	0.004289	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31487374	31487374	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:31487374C>T	ENST00000394863.3	+	8	886	c.756C>T	c.(754-756)ttC>ttT	p.F252F	TGFB1I1_ENST00000361773.3_Silent_p.F235F|TGFB1I1_ENST00000567607.1_Silent_p.F235F|TGFB1I1_ENST00000394858.2_Silent_p.F235F	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	252	LIM zinc-binding 1.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						CCGAGCACTTCGTTTGCGGAG	0.657000													27	50					0	0	0.006320	0	0
TTN	7273	broad.mit.edu	37	2	179583624	179583624	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:179583624G>A	ENST00000589042.1	-	84	24527	c.24303C>T	c.(24301-24303)atC>atT	p.I8101I	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.I7784I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.I6857I|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7784	Ig-like 63.						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)			GGGTGCCTCTGATGACACTGG	0.493000													16	18					0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9020060	9020060	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:9020060C>T	ENST00000397910.4	-	21	37638	c.37435G>A	c.(37435-37437)Gag>Aag	p.E12479K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12481	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCTCAGCTCCCAGTACAGC	0.552000													43	152					0	0	0.010771	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300714	103300714	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:103300714C>T	ENST00000233969.2	+	5	1486	c.1344C>T	c.(1342-1344)ctC>ctT	p.L448L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	448						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TAGTGTTTCTCCTTCCTGCTG	0.433000													24	100					0	0	0.003330	0	0
RTBDN	83546	broad.mit.edu	37	19	12936603	12936603	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:12936603A>C	ENST00000322912.5	-	7	1020	c.703T>G	c.(703-705)Tcc>Gcc	p.S235A	RTBDN_ENST00000589272.1_3'UTR|RTBDN_ENST00000592204.1_Missense_Mutation_p.S213A|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000458671.2_Missense_Mutation_p.S203A|RTBDN_ENST00000393233.2_3'UTR	NM_031429.2	NP_113617.1	Q9BSG5	RTBDN_HUMAN	retbindin	203						extracellular region				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						GAACGCCGGGAGGGAGCTTCC	0.711000											OREG0025275	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	29					0	0	0.004482	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003316	75003316	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:75003316C>T	ENST00000373359.2	-	1	1763	c.1571G>A	c.(1570-1572)tGa>tAa	p.*524*		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	0										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCTAGACTTCACGTGGGGTC	0.463000													36	10					0	0	0.004878	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628433	173628433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:173628433G>A	ENST00000333279.2	-	2	185	c.125C>T	c.(124-126)cCt>cTt	p.P42L		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	58	Poly-Glu.									NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TGTGAGAGCAGGTTGTAAAAG	0.448000													18	20					0	0	0.004990	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920151	155920151	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:155920151G>A	ENST00000368316.1	-	25	3212	c.2742C>T	c.(2740-2742)gaC>gaT	p.D914D	ARHGEF2_ENST00000368315.3_Silent_p.D943D|ARHGEF2_ENST00000361247.4_Silent_p.D942D|ARHGEF2_ENST00000313695.7_Silent_p.D914D|ARHGEF2_ENST00000313667.4_Silent_p.D941D			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	942					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAGTGTCAGGGTCACTGCTGT	0.607000													61	53					0	0	0.014410	0	0
CYP4F2	8529	broad.mit.edu	37	19	16006320	16006320	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:16006320G>A	ENST00000221700.5	-	3	434	c.339C>T	c.(337-339)gcC>gcT	p.A113A	CYP4F2_ENST00000592328.1_Intron|CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	113					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGTACCTGAGGCGTTGATGA	0.607000													103	124					0	0	0.014410	0	0
OPN1SW	611	broad.mit.edu	37	7	128415809	128415809	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:128415809G>A	ENST00000249389.2	-	1	35	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	12					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						AGATATTTTTGAACAGATAAA	0.537000													33	69					0	0	0.013726	0	0
CYHR1	50626	broad.mit.edu	37	8	145689869	145689869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:145689869G>A	ENST00000438911.2	-	2	353	c.220C>T	c.(220-222)Ccc>Tcc	p.P74S	CYHR1_ENST00000403000.2_Missense_Mutation_p.P74S|CYHR1_ENST00000424149.2_Missense_Mutation_p.P74S|CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000306145.5_Missense_Mutation_p.P74S	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	74						perinuclear region of cytoplasm	zinc ion binding	p.P74S(2)		haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCCAGAAGGGGAAGGCCGATG	0.662000													12	55					0	0	0.010729	0	0
MLPH	79083	broad.mit.edu	37	2	238419296	238419296	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:238419296T>C	ENST00000264605.3	+	3	484	c.190T>C	c.(190-192)Tgc>Cgc	p.C64R	MLPH_ENST00000445024.2_Missense_Mutation_p.C64R|MLPH_ENST00000410032.1_Missense_Mutation_p.C64R|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000338530.4_Missense_Mutation_p.C64R|MLPH_ENST00000409373.1_Missense_Mutation_p.C64R	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	64	RabBD.						metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CGAGACCCACTGCGCCCGCTG	0.557000													26	27					0	0	0.006320	0	0
HCRTR2	3062	broad.mit.edu	37	6	55142266	55142266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:55142266C>T	ENST00000370862.3	+	5	1187	c.851C>T	c.(850-852)tCc>tTc	p.S284F		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	284					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCAACGAAGTCCCGGATGAGC	0.502000													18	8					0	0	0.006122	0	0
PIK3R3	8503	broad.mit.edu	37	1	46509440	46509440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:46509440G>A	ENST00000262741.5	-	10	1980	c.1291C>T	c.(1291-1293)Cat>Tat	p.H431Y	PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000423209.1_Missense_Mutation_p.H372Y|PIK3R3_ENST00000540385.1_Missense_Mutation_p.H477Y|PIK3R3_ENST00000372006.1_Missense_Mutation_p.H431Y|PIK3R3_ENST00000420542.1_Missense_Mutation_p.H431Y|PIK3R3_ENST00000354242.4_Missense_Mutation_p.H372Y|PIK3R3_ENST00000340332.6_Missense_Mutation_p.H336Y	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	431	SH2 2.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					TGCTGGTAATGGAGCACTAGC	0.537000													26	64					0	0	0.003954	0	0
VKORC1L1	154807	broad.mit.edu	37	7	65419208	65419208	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:65419208T>C	ENST00000360768.3	+	3	557	c.452T>C	c.(451-453)cTt>cCt	p.L151P	VKORC1L1_ENST00000434382.2_Silent_p.P114P	NM_173517.3	NP_775788.2	Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1	151						integral to membrane				large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	CTGAACTTCCTTCTTCTCATT	0.517000													35	49					0	0	0.004289	0	0
C1orf173	127254	broad.mit.edu	37	1	75037580	75037580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:75037580C>T	ENST00000326665.5	-	14	4032	c.3814G>A	c.(3814-3816)Gaa>Aaa	p.E1272K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1272	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCAACAGCTTCCTGGGTCCTT	0.567000													47	126					0	0	0.014410	0	0
ATP10D	57205	broad.mit.edu	37	4	47593286	47593286	+	Missense_Mutation	SNP	C	C	T	rs112565536		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:47593286C>T	ENST00000273859.3	+	23	4438	c.4169C>T	c.(4168-4170)tCc>tTc	p.S1390F		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1390					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TCAGCAAGTTCCTGTGCTATT	0.453000													82	127					0	0	0.014410	0	0
TRBV9	28586	broad.mit.edu	37	7	142239615	142239615	+	RNA	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:142239615G>A	ENST00000390363.2	-	0	311																											TGCAAGTCAGGGAACTGTTGT	0.502000													52	89					0	0	0.014410	0	0
BAZ1B	9031	broad.mit.edu	37	7	72922733	72922733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:72922733G>A	ENST00000339594.4	-	3	631	c.293C>T	c.(292-294)tCc>tTc	p.S98F	BAZ1B_ENST00000404251.1_Missense_Mutation_p.S98F	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	98	Mediates the tyrosine-protein kinase activity.|WAC.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTTCTCTAAGGAGGCTGTGTT	0.408000													27	37					0	0	0.006320	0	0
NAV3	89795	broad.mit.edu	37	12	78583874	78583874	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:78583874G>A	ENST00000397909.2	+	34	6339	c.6166G>A	c.(6166-6168)Gga>Aga	p.G2056R	NAV3_ENST00000536525.2_Missense_Mutation_p.G2034R|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000266692.7_Missense_Mutation_p.G1857R|NAV3_ENST00000228327.6_Missense_Mutation_p.G2034R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2056						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TATACTCTCAGGACCGAGTGG	0.368000										HNSCC(70;0.22)			22	23					0	0	0.012319	0	0
ARID4B	51742	broad.mit.edu	37	1	235338551	235338551	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:235338551G>A	ENST00000264183.3	-	22	4109	c.3612C>T	c.(3610-3612)ctC>ctT	p.L1204L	ARID4B_ENST00000349213.3_Silent_p.L1118L|ARID4B_ENST00000366603.2_Silent_p.L1204L	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TGGGTTCCTTGAGATCAGGAT	0.398000													32	98					0	0	0.003271	0	0
DRD2	1813	broad.mit.edu	37	11	113281476	113281476	+	Silent	SNP	C	C	T	rs77930100	byFrequency	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:113281476C>T	ENST00000362072.3	-	8	1649	c.1305G>A	c.(1303-1305)aaG>aaA	p.K435K	DRD2_ENST00000542968.1_Silent_p.K435K|DRD2_ENST00000346454.3_Silent_p.K406K|DRD2_ENST00000355319.2_Silent_p.K437K|DRD2_ENST00000544518.1_Silent_p.K434K|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000538967.1_Silent_p.K437K	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	435					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TCAGGAAGGCCTTGCGGAACT	0.617000													52	122					0	0	0.014410	0	0
AGPAT9	84803	broad.mit.edu	37	4	84516095	84516095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:84516095G>A	ENST00000395226.2	+	8	1054	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	AGPAT9_ENST00000264409.4_Missense_Mutation_p.R279Q	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	279					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				ATGAAGGATCGACACCTGGTT	0.478000													69	81					0	0	0.014410	0	0
UIMC1	51720	broad.mit.edu	37	5	176332391	176332391	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:176332391G>A	ENST00000377219.2	-	15	2221	c.2055C>T	c.(2053-2055)tcC>tcT	p.S685S	UIMC1_ENST00000377227.4_Silent_p.S684S|UIMC1_ENST00000511320.1_Silent_p.S684S|UIMC1_ENST00000506128.1_Silent_p.S518S	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	684					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCTGAAATGGAAACAAAAG	0.483000													41	49					0	0	0.006230	0	0
TRPM8	79054	broad.mit.edu	37	2	234854559	234854559	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:234854559G>A	ENST00000324695.4	+	7	799	c.759G>A	c.(757-759)ctG>ctA	p.L253L	TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	253						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGTATATCCTGGACAACAACC	0.438000													36	53					0	0	0.005524	0	0
GLRB	2743	broad.mit.edu	37	4	158091827	158091827	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:158091827T>A	ENST00000264428.4	+	10	1711	c.1441T>A	c.(1441-1443)Ttt>Att	p.F481I	GLRB_ENST00000541722.1_3'UTR|GLRB_ENST00000512619.1_3'UTR|GLRB_ENST00000509282.1_Missense_Mutation_p.F481I	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	481					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	AAGAGCATTGTTTCCTTTCTG	0.353000													33	67					0	0	0.003755	0	0
PGM1	5236	broad.mit.edu	37	1	64095185	64095185	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:64095185C>T	ENST00000371083.4	+	2	758	c.390C>T	c.(388-390)atC>atT	p.I130I	PGM1_ENST00000371084.3_Silent_p.I112I|PGM1_ENST00000540265.1_5'UTR	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	112					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TTGGTGGGATCATTCTGACAG	0.458000													126	114					0	0	0.014410	0	0
ADTRP	84830	broad.mit.edu	37	6	11778949	11778949	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:11778949C>T	ENST00000414691.3	-	1	454	c.44G>A	c.(43-45)aGc>aAc	p.S15N	ADTRP_ENST00000229583.5_Missense_Mutation_p.S15N|ADTRP_ENST00000379413.2_Missense_Mutation_p.S15N	NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN	androgen-dependent TFPI-regulating protein	15						integral to membrane											AGTATACCAGCTCAGAACAAG	0.458000													44	76					0	0	0.007835	0	0
FAM71B	153745	broad.mit.edu	37	5	156592849	156592849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:156592849G>A	ENST00000302938.4	-	1	426	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	111						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACGGGCCTGCGACCTCTCCCC	0.542000													336	298					0	0	0.014410	0	0
ABCF3	55324	broad.mit.edu	37	3	183906717	183906717	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:183906717G>A	ENST00000429586.2	+	9	1103	c.917_splice	c.e9-1	p.R306_splice	ABCF3_ENST00000292808.5_Splice_Site_p.R300_splice|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	306	ABC transporter 1.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTCTACTAGGGCATCAGTCA	0.517000													30	58					0	0	0.013726	0	0
MYO1B	4430	broad.mit.edu	37	2	192194745	192194745	+	Silent	SNP	A	A	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:192194745A>C	ENST00000392318.3	+	4	583	c.336A>C	c.(334-336)gcA>gcC	p.A112A	MYO1B_ENST00000392316.1_Silent_p.A112A|MYO1B_ENST00000339514.4_Silent_p.A112A|MYO1B_ENST00000304164.4_Silent_p.A112A	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	112	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AAAGTGGAGCAGGAAAAACAG	0.473000													40	135					0	0	0.006230	0	0
OR5B21	219968	broad.mit.edu	37	11	58275359	58275359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:58275359C>T	ENST00000360374.2	-	1	219	c.220G>A	c.(220-222)Gct>Act	p.A74T		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGGGCTACAGCTGATGAGTAA	0.517000													29	43					0	0	0.007291	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20495408	20495408	+	RNA	SNP	G	G	A	rs2954587	by1000genomes	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:20495408G>A	ENST00000555186.1	+	0	611					NR_038836.1																						TCTGTGTGAGGAAAATGAATC	0.388000													19	81					0	0	0.007413	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647383	33647383	+	Missense_Mutation	SNP	C	C	T	rs145515319	by1000genomes	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:33647383C>T	ENST00000558425.1	-	2	216	c.217G>A	c.(217-219)Gat>Aat	p.D73N																								TAACCACTATCACCACTAATG	0.507000													134	165					0	0	0.014410	0	0
GRIA1	2890	broad.mit.edu	37	5	153056646	153056646	+	Silent	SNP	G	G	A	rs146697277		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:153056646G>A	ENST00000285900.5	+	7	1297	c.954G>A	c.(952-954)ggG>ggA	p.G318G	GRIA1_ENST00000518783.1_Silent_p.G328G|GRIA1_ENST00000518142.1_Silent_p.G238G|GRIA1_ENST00000521843.2_Silent_p.G249G|GRIA1_ENST00000448073.4_Silent_p.G328G|GRIA1_ENST00000340592.5_Silent_p.G318G	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	318					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTCGCCGGGGGAATGCTGGGG	0.572000													23	20					0	0	0.003954	0	0
SPARCL1	8404	broad.mit.edu	37	4	88414772	88414772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:88414772C>T	ENST00000418378.1	-	5	1751	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	SPARCL1_ENST00000282470.6_Missense_Mutation_p.E394K|SPARCL1_ENST00000503414.1_Missense_Mutation_p.E269K	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	394					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CCTATATTTTCATTTTCATGT	0.413000													19	42					0	0	0.007413	0	0
NDST4	64579	broad.mit.edu	37	4	115856476	115856476	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:115856476C>T	ENST00000264363.2	-	6	2100	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	474	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ACCCACAAGTCTGTCGAGGGA	0.398000													19	40					0	0	0.010504	0	0
RORB	6096	broad.mit.edu	37	9	77282758	77282758	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:77282758C>T	ENST00000376896.2	+	8	1664	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F	RORB_ENST00000396204.2_Missense_Mutation_p.S362F	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	362	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						AATTTGTGTTCCTTGCAGCTG	0.383000													49	25					0	0	0.014410	0	0
CFAP54	144535	broad.mit.edu	37	12	97147565	97147565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:97147565G>A	ENST00000524981.3	+	23	3082	c.3082G>A	c.(3082-3084)Gac>Aac	p.D1028N				Q6ZTY8	CL063_HUMAN		1002								p.K1001>?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TAAAAGGAAGGACCCCTCGAA	0.423000													20	35					0	0	0.003954	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070111	141070111	+	RNA	SNP	T	T	C	rs139643347	by1000genomes	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:141070111T>C	ENST00000503395.1	+	0	1191																		p.S75S(1)									CCATGGACTCTGTGCGCTCGG	0.697000													4	49					0	0	0.000602	0	0
NISCH	11188	broad.mit.edu	37	3	52506374	52506374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:52506374C>T	ENST00000345716.4	+	6	763	c.629C>T	c.(628-630)cCg>cTg	p.P210L	NISCH_ENST00000420808.2_Missense_Mutation_p.P210L|NISCH_ENST00000479054.1_Missense_Mutation_p.P210L|NISCH_ENST00000488380.1_Missense_Mutation_p.P210L	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	210	Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CAGCTCCTGCCGTTCGACCTA	0.527000											OREG0015615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	76					0	0	0.006230	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31797817	31797817	+	Silent	SNP	A	A	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr21:31797817A>C	ENST00000390690.2	-	1	469	c.414T>G	c.(412-414)ccT>ccG	p.P138P		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	138						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						AACTCTGGGAAGGGGAGGTAT	0.463000													9	29					0	0	0.008291	0	0
CD84	8832	broad.mit.edu	37	1	160523163	160523163	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:160523163C>T	ENST00000311224.4	-	4	831	c.765G>A	c.(763-765)agG>agA	p.R255R	RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368054.3_Intron|CD84_ENST00000368048.3_Intron|CD84_ENST00000368051.3_Intron|CD84_ENST00000534968.1_Intron	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	255					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTGGGAAAATCCTACCTTGTC	0.458000													16	29					0	0	0.003163	0	0
SLC5A8	160728	broad.mit.edu	37	12	101581218	101581218	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:101581218G>A	ENST00000536262.2	-	7	1467	c.909C>T	c.(907-909)tcC>tcT	p.S303S		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	303					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATGGTACCTGGAATATAGGG	0.438000													14	23					0	0	0.003163	0	0
OR4C15	81309	broad.mit.edu	37	11	55322011	55322011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:55322011G>A	ENST00000314644.2	+	1	229	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AAATGTTCAGGAAATAGTATT	0.418000										HNSCC(20;0.049)			55	106					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179395655	179395655	+	Silent	SNP	T	T	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:179395655T>G	ENST00000589042.1	-	358	105911	c.105687A>C	c.(105685-105687)acA>acC	p.T35229T	TTN_ENST00000359218.5_Silent_p.T26289T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000591111.1_Silent_p.T33588T|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000460472.2_Silent_p.T26164T|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Silent_p.T32661T|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342175.6_Silent_p.T26356T|TTN-AS1_ENST00000588257.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33588							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)			TTGGTGGTGATGTCACAGCCT	0.478000													42	139					0	0	0.006999	0	0
GRIA2	2891	broad.mit.edu	37	4	158283982	158283982	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:158283982T>A	ENST00000296526.7	+	15	2763	c.2438T>A	c.(2437-2439)gTt>gAt	p.V813D	GRIA2_ENST00000264426.9_Missense_Mutation_p.V813D|GRIA2_ENST00000449365.1_Missense_Mutation_p.V766D|GRIA2_ENST00000507898.1_Missense_Mutation_p.V766D|GRIA2_ENST00000393815.2_Missense_Mutation_p.V766D	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	813					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTGAGCAACGTTGCTGGAGTA	0.463000													34	59					0	0	0.013726	0	0
MSLN	10232	broad.mit.edu	37	16	815753	815753	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:815753G>A	ENST00000566549.1	+	10	1275	c.858G>A	c.(856-858)cgG>cgA	p.R286R	MSLN_ENST00000563941.1_Silent_p.R286R|MSLN_ENST00000382862.3_Silent_p.R286R|MSLN_ENST00000545450.2_Silent_p.R286R			Q13421	MSLN_HUMAN	mesothelin	286	Required for megakaryocyte-potentiating factor activity.				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				AGCCTGAACGGACCATCCTCC	0.716000													7	27					0	0	0.003080	0	0
GLIS1	148979	broad.mit.edu	37	1	54060487	54060487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:54060487C>T	ENST00000312233.2	-	3	655	c.89G>A	c.(88-90)aGc>aAc	p.S30N		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	30					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGTGGCGAGGCTTCGGCCCGG	0.706000													14	32					0	0	0.002450	0	0
FAM26F	441168	broad.mit.edu	37	6	116784550	116784550	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:116784550G>A	ENST00000368605.1	+	3	725	c.630G>A	c.(628-630)tgG>tgA	p.W210*	FAM26F_ENST00000368606.3_Nonsense_Mutation_p.W38*|RP1-93H18.6_ENST00000476099.1_RNA	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	210						integral to membrane				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		TGAAATTCTGGAAAATCTATT	0.393000													45	32					0	0	0.010771	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50404023	50404023	+	Missense_Mutation	SNP	C	C	T	rs140562117		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:50404023C>T	ENST00000435965.1	-	31	2817	c.2644G>A	c.(2644-2646)Gag>Aag	p.E882K	XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.E876K|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.E882K|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.E875K|XXcos-LUCA11.4_ENST00000606665.1_RNA|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.E875K|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.E883K|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.E806K|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.E875K			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	882					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TTGTTAACCTCGCAGTCCATC	0.582000													23	35					0	0	0.005443	0	0
OR13C8	138802	broad.mit.edu	37	9	107331452	107331452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:107331452G>A	ENST00000335040.1	+	1	4	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ATGTAATATGGAAAGGACCAA	0.393000													41	17					0	0	0.006999	0	0
HDHD3	81932	broad.mit.edu	37	9	116135909	116135909	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:116135909G>A	ENST00000238379.5	-	2	1623	c.726C>T	c.(724-726)gaC>gaT	p.D242D	HDHD3_ENST00000374180.3_Silent_p.D242D	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	242							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						CCTCTAGGCAGTCAAGGGCAG	0.592000													4	99					0	0	0.000602	0	0
HLA-V	352962	broad.mit.edu	37	6	29761676	29761676	+	RNA	SNP	C	C	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:29761676C>G	ENST00000457107.1	+	0	902																											gagagggtttcatattcaaga	0.493000													3	21					0	0	0.009096	0	0
MUC21	394263	broad.mit.edu	37	6	30955194	30955194	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:30955194C>T	ENST00000376296.3	+	2	1483	c.1242C>T	c.(1240-1242)tcC>tcT	p.S414S	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	414	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GCACAGTGTCCAGTGGGGCCA	0.627000													90	133					0	0	0.014410	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823	by1000genomes	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N						ankyrin repeat domain 36C									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000													4	55					0	0	0.000602	0	0
TMEM2	23670	broad.mit.edu	37	9	74324376	74324376	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:74324376G>A	ENST00000377044.4	-	17	3323	c.2784C>T	c.(2782-2784)gtC>gtT	p.V928V	TMEM2_ENST00000377066.5_Silent_p.V865V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	928						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TTCCAAAAAAGACATTCAGAG	0.458000													25	11					0	0	0.004656	0	0
CD84	8832	broad.mit.edu	37	1	160549207	160549207	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:160549207C>T	ENST00000368054.3	-	1	56	c.21G>A	c.(19-21)tgG>tgA	p.W7*	CD84_ENST00000311224.4_Nonsense_Mutation_p.W7*|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000368048.3_Nonsense_Mutation_p.W7*|CD84_ENST00000368051.3_Nonsense_Mutation_p.W7*|CD84_ENST00000534968.1_Nonsense_Mutation_p.W7*	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	7					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGAGCAAGATCCATAGGTGGT	0.453000													43	59					0	0	0.014410	0	0
NEB	4703	broad.mit.edu	37	2	152520314	152520314	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:152520314C>T	ENST00000427231.2	-	45	5713	c.5511G>A	c.(5509-5511)ctG>ctA	p.L1837L	NEB_ENST00000172853.10_Silent_p.L1837L|NEB_ENST00000397345.3_Silent_p.L1837L|NEB_ENST00000603639.1_Silent_p.L1837L|NEB_ENST00000604864.1_Silent_p.L1837L|NEB_ENST00000409198.1_Silent_p.L1837L	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1837					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGTCATCTTCCAGGCTCCGGA	0.453000													11	76					0	0	0.001855	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67858577	67858577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:67858577G>A	ENST00000388833.3	+	6	788	c.411G>A	c.(409-411)atG>atA	p.M137I	TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.M122I|TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.M191I	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	137					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TCCTGGCCATGAGAGCTGAGG	0.468000													17	17					0	0	0.004990	0	0
LCE1B	353132	broad.mit.edu	37	1	152785047	152785047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:152785047C>T	ENST00000360090.3	+	1	601	c.125C>T	c.(124-126)tCc>tTc	p.S42F		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	42					keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAGTCTCTTCCTGCTGCAGT	0.647000													49	54					0	0	0.014410	0	0
SCAMP5	192683	broad.mit.edu	37	15	75310852	75310852	+	Silent	SNP	C	C	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:75310852C>G	ENST00000361900.6	+	7	696	c.489C>G	c.(487-489)gtC>gtG	p.V163V	SCAMP5_ENST00000425597.3_Silent_p.V163V|SCAMP5_ENST00000568081.1_Silent_p.V96V|SCAMP5_ENST00000545456.1_Silent_p.V92V|SCAMP5_ENST00000562212.1_Silent_p.V171V	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	163					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						TGATGGCCGTCTTTTCCTTCA	0.552000													4	185					0	0	0.009096	0	0
NTM	50863	broad.mit.edu	37	11	132180060	132180060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:132180060G>A	ENST00000374786.1	+	5	1195	c.716G>A	c.(715-717)gGg>gAg	p.G239E	NTM_ENST00000374791.3_Missense_Mutation_p.G239E|NTM_ENST00000425719.2_Missense_Mutation_p.G239E|NTM_ENST00000539799.1_Missense_Mutation_p.G239E|NTM_ENST00000374784.1_Missense_Mutation_p.G239E|NTM_ENST00000427481.2_Missense_Mutation_p.G230E|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	239	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GGACAAAAGGGGACACTGCAG	0.502000													61	144					0	0	0.014410	0	0
APBA1	320	broad.mit.edu	37	9	72131836	72131836	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:72131836G>A	ENST00000265381.4	-	2	513	c.291C>T	c.(289-291)atC>atT	p.I97I		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	97					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGGCCGCGGCGATCACGTCGC	0.716000													12	4					0	0	0.003163	0	0
KLHDC3	116138	broad.mit.edu	37	6	42985300	42985300	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:42985300C>T	ENST00000326974.4	+	3	393	c.198C>T	c.(196-198)atC>atT	p.I66I	KLHDC3_ENST00000332245.8_Intron|KLHDC3_ENST00000244670.8_5'UTR	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	66					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGTCTGCCATCCGTGGGCAAG	0.607000													76	11					0	0	0.014410	0	0
CATSPER2	117155	broad.mit.edu	37	15	43940180	43940180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:43940180G>A	ENST00000396879.1	-	3	192	c.80C>T	c.(79-81)tCt>tTt	p.S27F	CATSPER2_ENST00000354127.4_Missense_Mutation_p.S27F|CATSPER2_ENST00000464721.1_Intron|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000381761.1_Missense_Mutation_p.S33F|CATSPER2_ENST00000355438.2_Missense_Mutation_p.S27F|CATSPER2_ENST00000321596.5_Missense_Mutation_p.S27F			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	27					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CTCAATGAGAGAGAAAGTATC	0.463000													64	210					0	0	0.014410	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148968112	148968112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:148968112C>T	ENST00000336498.3	+	20	2176	c.1937C>T	c.(1936-1938)cCc>cTc	p.P646L	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.P295L	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	646					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TCCCCGTCTCCCGTGACTACA	0.522000													39	67					0	0	0.008740	0	0
DGCR2	9993	broad.mit.edu	37	22	19055731	19055731	+	Silent	SNP	G	G	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:19055731G>C	ENST00000545799.1	-	3	410	c.210C>G	c.(208-210)acC>acG	p.T70T	DGCR2_ENST00000263196.7_Silent_p.T70T|DGCR2_ENST00000537045.1_Silent_p.T29T			P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	70					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GCACCTCCCCGGTCACTTCTG	0.637000													20	18					0	0	0.012319	0	0
CLEC17A	388512	broad.mit.edu	37	19	14705455	14705455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:14705455G>A	ENST00000547437.1	+	6	399	c.322G>A	c.(322-324)Gag>Aag	p.E108K	CLEC17A_ENST00000397439.2_Missense_Mutation_p.E91K|CLEC17A_ENST00000417570.1_Missense_Mutation_p.E108K	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	108						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										AAAGGAAACAGAGAAACCCCC	0.572000													26	25					0	0	0.009535	0	0
OR4F6	390648	broad.mit.edu	37	15	102345964	102345964	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:102345964C>T	ENST00000328882.4	+	1	63	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			AGTTTGTGTTCCTGGGACTCT	0.478000													72	71					0	0	0.014410	0	0
HEATR5A	25938	broad.mit.edu	37	14	31762600	31762600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr14:31762600C>T	ENST00000543095.2	-	36	6236	c.6052G>A	c.(6052-6054)Gaa>Aaa	p.E2018K	HEATR5A_ENST00000439727.1_Missense_Mutation_p.E1725K|HEATR5A_ENST00000439348.1_Missense_Mutation_p.E1937K|RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000389961.3_Missense_Mutation_p.E2012K	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	2012							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TTGACACTTTCCTGATTGCCC	0.383000													80	33					0	0	0.014410	0	0
USH1G	124590	broad.mit.edu	37	17	72915799	72915799	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:72915799C>T	ENST00000319642.1	-	2	1314	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	378					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AAGCCTAAATCGAGCTCATCC	0.657000													35	46					0	0	0.013726	0	0
POTEA	340441	broad.mit.edu	37	8	43157211	43157211	+	RNA	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:43157211G>A	ENST00000522175.2	+	0	697							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GATGTATTTGGACAAACTGCT	0.308000													37	54					0	0	0.004878	0	0
KIAA0754	643314	broad.mit.edu	37	1	39879020	39879020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:39879020C>T	ENST00000530275.1	+	1	2870	c.2675C>T	c.(2674-2676)tCc>tTc	p.S892F	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	892	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGCCCACCTCCCCAGCTGCT	0.726000													15	16					0	0	0.012319	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564131	46564131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:46564131G>A	ENST00000458649.2	-	7	1854	c.1436C>T	c.(1435-1437)aCt>aTt	p.T479I	AMBRA1_ENST00000426438.1_Missense_Mutation_p.T479I|AMBRA1_ENST00000533727.1_Missense_Mutation_p.T389I|AMBRA1_ENST00000534300.1_Missense_Mutation_p.T479I|AMBRA1_ENST00000528950.1_Missense_Mutation_p.T479I|AMBRA1_ENST00000314845.3_Missense_Mutation_p.T389I|AMBRA1_ENST00000298834.3_Missense_Mutation_p.T479I			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	479					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ATCTGACTCAGTTGCCAACCC	0.547000													49	74					0	0	0.014410	0	0
ATG5	9474	broad.mit.edu	37	6	106696051	106696051	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:106696051G>A	ENST00000369076.3	-	6	870	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	ATG5_ENST00000343245.3_Missense_Mutation_p.R183C|ATG5_ENST00000369070.1_Missense_Mutation_p.R105C|ATG5_ENST00000360666.4_Silent_p.F59F	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	183					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		GGGATATAACGAAATCCATTT	0.313000													24	18					0	0	0.006320	0	0
ABCA13	154664	broad.mit.edu	37	7	48547507	48547507	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:48547507C>T	ENST00000435803.1	+	50	13410	c.13386C>T	c.(13384-13386)atC>atT	p.I4462I	ABCA13_ENST00000544596.1_Silent_p.I192I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4462					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCCTCTGCATCGTGCTGGGAT	0.567000													7	21					0	0	0.003080	0	0
HTT	3064	broad.mit.edu	37	4	3234955	3234955	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:3234955C>T	ENST00000355072.5	+	61	8476	c.8331C>T	c.(8329-8331)ccC>ccT	p.P2777P	HTT_ENST00000513806.1_Intron	NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2777					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCCACCTGCCCAGCAGGGTTG	0.637000													72	99					0	0	0.014410	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543248	133543248	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:133543248G>A	ENST00000409261.1	-	14	1509	c.1136C>T	c.(1135-1137)tCg>tTg	p.S379L	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S379L	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	379	Ser-rich.						protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ACTTGGGAGCGAAGAATCAAT	0.388000													17	15					0	0	0.004007	0	0
OR2J3	442186	broad.mit.edu	37	6	29080495	29080495	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:29080495C>T	ENST00000377169.1	+	1	828	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						AAGGCAAGTTCATTGCCCTCT	0.443000													51	55					0	0	0.014410	0	0
KDM2B	84678	broad.mit.edu	37	12	121878775	121878775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:121878775G>A	ENST00000377069.4	-	20	3653	c.3247C>T	c.(3247-3249)Cgg>Tgg	p.R1083W	KDM2B_ENST00000377071.4_Missense_Mutation_p.R1152W|KDM2B_ENST00000542973.1_Missense_Mutation_p.R520W|KDM2B_ENST00000536437.1_Intron	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1152	F-box.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ACCAAGTCCCGGAGCCCTGGG	0.652000													25	31					0	0	0.003330	0	0
ADCY1	107	broad.mit.edu	37	7	45717819	45717819	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:45717819C>T	ENST00000297323.7	+	10	1877	c.1855C>T	c.(1855-1857)Ctg>Ttg	p.L619L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	619					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CACCCTCATCCTGGCTGCCTT	0.507000													77	149					0	0	0.014410	0	0
LYZL6	57151	broad.mit.edu	37	17	34263791	34263791	+	Silent	SNP	C	C	T	rs9604		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:34263791C>T	ENST00000585556.1	-	4	679	c.345G>A	c.(343-345)agG>agA	p.R115R	LYZL6_ENST00000394523.3_Silent_p.R115R|LYZL6_ENST00000293274.4_Silent_p.R115R			O75951	LYZL6_HUMAN	lysozyme-like 6	115					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGGACACAATCCTTTTTGCGC	0.562000													33	29					0	0	0.007835	0	0
LMBRD2	92255	broad.mit.edu	37	5	36117840	36117840	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:36117840G>A	ENST00000296603.4	-	10	1761	c.1299C>T	c.(1297-1299)atC>atT	p.I433I		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	433						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACTGACCTCGATATAAATAT	0.333000													10	14					0	0	0.010729	0	0
BCLAF1	9774	broad.mit.edu	37	6	136589407	136589407	+	Nonsense_Mutation	SNP	G	G	A	rs149673256		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:136589407G>A	ENST00000531224.1	-	10	2542	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*	BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R591*|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R762*|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R764*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R762*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R762*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	764					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTTTCTTCTCGAGAACTGGGA	0.383000													4	70					0	0	0.000602	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920179	155920179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:155920179G>A	ENST00000368316.1	-	25	3184	c.2714C>T	c.(2713-2715)cCc>cTc	p.P905L	ARHGEF2_ENST00000368315.3_Missense_Mutation_p.P934L|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.P933L|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P905L|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P932L			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	933					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCGCTCTTCGGGGCTCCCCAG	0.627000													54	35					0	0	0.014410	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644012	37644012	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:37644012G>A	ENST00000356958.4	-	5	1047	c.789C>T	c.(787-789)atC>atT	p.I263I	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Silent_p.I208I|ZNF585A_ENST00000392157.2_Silent_p.I208I|ZNF585A_ENST00000355533.2_Silent_p.I208I			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CGCCTGTATGGATTTTCTGAT	0.428000													84	73					0	0	0.014410	0	0
EPS8L3	79574	broad.mit.edu	37	1	110302423	110302423	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:110302423G>A	ENST00000369805.3	-	4	361	c.132C>T	c.(130-132)gtC>gtT	p.V44V	EPS8L3_ENST00000361965.4_Silent_p.V44V|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Silent_p.V44V	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	44						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CGGGCCCCTGGACTCTCTGAC	0.617000													38	73					0	0	0.009718	0	0
LGR4	55366	broad.mit.edu	37	11	27400305	27400305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:27400305C>T	ENST00000379214.4	-	11	1425	c.982G>A	c.(982-984)Ggt>Agt	p.G328S	LGR4_ENST00000389858.4_Missense_Mutation_p.G304S	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	328						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						ATCTTTGTACCTGTCAAAGTC	0.333000													27	60					0	0	0.005443	0	0
THSD7B	80731	broad.mit.edu	37	2	138000074	138000074	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:138000074C>T	ENST00000409968.1	+	10	2376	c.2198C>T	c.(2197-2199)cCa>cTa	p.P733L	THSD7B_ENST00000413152.2_Missense_Mutation_p.P702L|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.P733L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTTTTCTCCCATGCAAAAAA	0.468000													28	32					0	0	0.009535	0	0
OR10K2	391107	broad.mit.edu	37	1	158390112	158390112	+	Missense_Mutation	SNP	G	G	T	rs149783516	byFrequency	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:158390112G>T	ENST00000314902.2	-	1	544	c.545C>A	c.(544-546)gCt>gAt	p.A182D		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GAGGACAGGAGCAATGTCACA	0.443000													31	24					1.99505e-19	2.0759e-19	0.012213	1	0
LRP1	4035	broad.mit.edu	37	12	57579335	57579335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:57579335C>T	ENST00000243077.3	+	41	6951	c.6485C>T	c.(6484-6486)gCc>gTc	p.A2162V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2162	EGF-like 9.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCGCGGTGGCCAATGGCGGG	0.692000													8	25					0	0	0.008291	0	0
NPHS1	4868	broad.mit.edu	37	19	36333030	36333030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:36333030G>A	ENST00000378910.5	-	19	2658	c.2659C>T	c.(2659-2661)Ccc>Tcc	p.P887S	NPHS1_ENST00000353632.6_Missense_Mutation_p.P887S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	887	Ig-like C2-type 8.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCTCACCTGGGATCTTGGAGA	0.607000													13	20					0	0	0.001855	0	0
C6orf118	168090	broad.mit.edu	37	6	165715499	165715499	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:165715499C>T	ENST00000230301.8	-	2	332	c.312G>A	c.(310-312)agG>agA	p.R104R	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	104										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCTCCTTCATCCTCGCCACCT	0.682000													66	41					0	0	0.014410	0	0
MUC17	140453	broad.mit.edu	37	7	100678451	100678451	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:100678451A>C	ENST00000306151.4	+	3	3818	c.3754A>C	c.(3754-3756)Act>Cct	p.T1252P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1252	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTGTGACCACTTCTGCTGA	0.493000													150	206					0	0	0.014410	0	0
C12orf50	160419	broad.mit.edu	37	12	88376946	88376946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:88376946C>T	ENST00000298699.2	-	12	1333	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	C12orf50_ENST00000550553.1_Missense_Mutation_p.D346N	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	385										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CAGGCTGAATCATTATATGAT	0.274000													18	69					0	0	0.007413	0	0
FAM104A	84923	broad.mit.edu	37	17	71223381	71223381	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr17:71223381C>T	ENST00000405159.3	-	2	308	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000403627.3_Missense_Mutation_p.E82K|FAM104A_ENST00000583024.1_Intron	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	82										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TTGTCTTCTTCGTTGCCATTC	0.423000													59	101					0	0	0.014410	0	0
THSD7B	80731	broad.mit.edu	37	2	138400173	138400173	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:138400173C>T	ENST00000409968.1	+	21	4093	c.3915C>T	c.(3913-3915)gtC>gtT	p.V1305V	THSD7B_ENST00000413152.2_Silent_p.V1277V|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.V1308V					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACAGCTGGGTCCTTGGCAACT	0.478000													21	89					0	0	0.008871	0	0
WDR83	84292	broad.mit.edu	37	19	12780853	12780853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:12780853C>T	ENST00000418543.3	+	4	515	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W	WDR83_ENST00000242796.4_Missense_Mutation_p.R56W|WDR83OS_ENST00000596731.1_5'UTR	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	56					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						GAACCCGCTTCGGGGGACGCT	0.677000													39	32					0	0	0.004289	0	0
OR14C36	127066	broad.mit.edu	37	1	248512563	248512563	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:248512563C>T	ENST00000317861.1	+	1	487	c.487C>T	c.(487-489)Cag>Tag	p.Q163*		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CAGCACATTCCAGCTGCCCTT	0.512000													22	64					0	0	0.012319	0	0
PDGFB	5155	broad.mit.edu	37	22	39631877	39631877	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:39631877C>T	ENST00000331163.6	-	2	853	c.66G>A	c.(64-66)ggG>ggA	p.G22G	PDGFB_ENST00000381551.4_Silent_p.G7G	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	22					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	GAATGGGGTCCCCCTGCCGGG	0.592000			T	COL1A1	DFSP								12	12					0	0	0.001855	0	0
GLP1R	2740	broad.mit.edu	37	6	39024187	39024187	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:39024187C>T	ENST00000373256.4	+	2	136	c.93C>T	c.(91-93)tcC>tcT	p.S31S		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	31					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CCACTGTGTCCCTCTGGGAGA	0.617000													21	44					0	0	0.002780	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531413	140531413	+	Silent	SNP	C	C	T	rs144225778		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:140531413C>T	ENST00000231136.1	+	1	1575	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F	PCDHB6_ENST00000543635.1_Silent_p.F389F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		525	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGTCTTTCGAGTTCCGCG	0.672000													29	77					0	0	0.007291	0	0
NEU4	129807	broad.mit.edu	37	2	242758341	242758341	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:242758341G>A	ENST00000391969.2	+	5	2133	c.1422G>A	c.(1420-1422)ggG>ggA	p.G474G	NEU4_ENST00000405370.1_Silent_p.G474G|NEU4_ENST00000404257.1_Silent_p.G486G|NEU4_ENST00000407683.1_Silent_p.G474G|NEU4_ENST00000325935.6_Silent_p.G487G	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	474						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CCAACCTTGGGGACAAGCCTC	0.652000													14	14					0	0	0.004007	0	0
MLN	4295	broad.mit.edu	37	6	33766901	33766901	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:33766901T>A	ENST00000430124.2	-	3	280	c.215A>T	c.(214-216)gAa>gTa	p.E72V	MLN_ENST00000266003.5_Missense_Mutation_p.E72V|MLN_ENST00000507738.1_Missense_Mutation_p.E72V	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN	motilin	72					cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						TTCGTTTTCTTCTTCCCTGAT	0.532000													65	71					0	0	0.014410	0	0
KIAA1549	57670	broad.mit.edu	37	7	138566318	138566318	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:138566318T>C	ENST00000440172.1	-	11	4093	c.4045A>G	c.(4045-4047)Agt>Ggt	p.S1349G	KIAA1549_ENST00000242365.4_Missense_Mutation_p.S1299G|KIAA1549_ENST00000422774.1_Missense_Mutation_p.S1349G	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1349						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCCTTCACACTAGGGATCTGC	0.478000			O	BRAF	pilocytic astrocytoma								18	27					0	0	0.006122	0	0
C8B	732	broad.mit.edu	37	1	57422542	57422542	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:57422542C>T	ENST00000543257.1	-	4	701	c.135G>A	c.(133-135)ggG>ggA	p.G45G	C8B_ENST00000371237.4_Silent_p.G97G|C8B_ENST00000535057.1_Silent_p.G35G	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	97					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGCACGGTTCCCCATGGAACT	0.522000													68	138					0	0	0.014410	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21450448	21450448	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:21450448A>G	ENST00000307378.6	-	10	1685	c.965T>C	c.(964-966)aTa>aCa	p.I322T	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.I190T|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.I322T|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.I190T|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.I320T	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	322					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						ACTTACAAGTATGAAAAGCAT	0.348000													8	34					0	0	0.006214	0	0
MECOM	2122	broad.mit.edu	37	3	168833340	168833340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:168833340C>T	ENST00000464456.1	-	7	2956	c.1756G>A	c.(1756-1758)Gat>Aat	p.D586N	MECOM_ENST00000392736.3_Missense_Mutation_p.D586N|MECOM_ENST00000264674.3_Missense_Mutation_p.D651N|MECOM_ENST00000433243.2_Missense_Mutation_p.D587N|MECOM_ENST00000460814.1_Missense_Mutation_p.D586N|MECOM_ENST00000494292.1_Missense_Mutation_p.D774N|MECOM_ENST00000472280.1_Missense_Mutation_p.D587N|MECOM_ENST00000468789.1_Missense_Mutation_p.D586N	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATACTTAGATCCAGGGGCTGG	0.532000													22	38					0	0	0.006320	0	0
CCDC38	120935	broad.mit.edu	37	12	96260898	96260898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:96260898C>T	ENST00000344280.3	-	16	2205	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	SNRPF_ENST00000553192.1_Intron|SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	550										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTTTTTGTTTCATTGACTAAA	0.294000													9	37					0	0	0.010729	0	0
MUC16	94025	broad.mit.edu	37	19	9089011	9089011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:9089011G>A	ENST00000397910.4	-	1	3007	c.2804C>T	c.(2803-2805)gCt>gTt	p.A935V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	935	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTAGGAAGAGCTGAACCAGT	0.493000													19	57					0	0	0.010504	0	0
CYP4F3	4051	broad.mit.edu	37	19	15760868	15760868	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr19:15760868G>A	ENST00000221307.7	+	7	841	c.793G>A	c.(793-795)Gac>Aac	p.D265N	CYP4F3_ENST00000585846.1_Missense_Mutation_p.D265N|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000591058.1_Missense_Mutation_p.D265N|CYP4F3_ENST00000586182.1_Missense_Mutation_p.D265N	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	265					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCTGGTGCACGACTTCACAGA	0.562000													36	127					0	0	0.004289	0	0
BNC2	54796	broad.mit.edu	37	9	16552649	16552649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr9:16552649G>A	ENST00000380672.4	-	5	605	c.548C>T	c.(547-549)cCt>cTt	p.P183L	BNC2_ENST00000545497.1_Missense_Mutation_p.P88L|BNC2_ENST00000380667.2_Missense_Mutation_p.P116L|BNC2_ENST00000380666.2_Missense_Mutation_p.P183L	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TAGCCGCACAGGCACTGCTTG	0.567000													17	35					0	0	0.008871	0	0
SULT1E1	6783	broad.mit.edu	37	4	70713469	70713469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:70713469C>T	ENST00000226444.3	-	6	650	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	180					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TTTCCCTTTTCCCACCAAGAT	0.368000													46	72					0	0	0.014410	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136339	40136339	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:40136339C>T	ENST00000278198.2	-	2	3467	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	LRRC4C_ENST00000530763.1_Missense_Mutation_p.E502K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.E502K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E502K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	502					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGGTTTTCTCTGTCGACCTT	0.502000													28	45					0	0	0.007291	0	0
PDGFB	5155	broad.mit.edu	37	22	39631876	39631876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:39631876C>T	ENST00000331163.6	-	2	854	c.67G>A	c.(67-69)Gac>Aac	p.D23N	PDGFB_ENST00000381551.4_Missense_Mutation_p.D8N	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	23					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	GGAATGGGGTCCCCCTGCCGG	0.597000			T	COL1A1	DFSP								12	12					0	0	0.001855	0	0
KCNG1	3755	broad.mit.edu	37	20	49626572	49626572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:49626572G>A	ENST00000371571.4	-	2	589	c.304C>T	c.(304-306)Ctc>Ttc	p.L102F	KCNG1_ENST00000396017.3_Missense_Mutation_p.L102F	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	102						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CACACGTTGAGGATGTCGTCG	0.632000													27	42					0	0	0.003954	0	0
LVRN	206338	broad.mit.edu	37	5	115339027	115339027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:115339027G>A	ENST00000357872.4	+	12	2111	c.1987G>A	c.(1987-1989)Gat>Aat	p.D663N	AQPEP_ENST00000395528.2_Missense_Mutation_p.D180N	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		663					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AGTTAATTATGATAAATTAGG	0.284000													10	60					0	0	0.010729	0	0
INTU	27152	broad.mit.edu	37	4	128584651	128584651	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:128584651T>C	ENST00000335251.5	+	4	987	c.884T>C	c.(883-885)gTt>gCt	p.V295A	INTU_ENST00000296461.5_Missense_Mutation_p.V295A	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	295										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GGAGAAGAGGTTGAAGGTATC	0.448000													51	77					0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13737548	13737548	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:13737548C>T	ENST00000265104.4	-	66	11372	c.11268G>A	c.(11266-11268)agG>agA	p.R3756R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3756	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTCCTTCATCCTTCTTTTGT	0.373000									Kartagener syndrome				71	46					0	0	0.014410	0	0
PDS5B	23047	broad.mit.edu	37	13	33309342	33309342	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:33309342G>A	ENST00000315596.10	+	21	2467	c.2281G>A	c.(2281-2283)Gaa>Aaa	p.E761K		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	761					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAGCAACCTGGAACATCTCAT	0.373000													18	45					0	0	0.007413	0	0
HERC2P9	440248	broad.mit.edu	37	15	28900644	28900644	+	RNA	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:28900644C>T	ENST00000528584.1	+	0	162					NR_036443.1																						TCCTCAGAGTCCATGCTGAGG	0.642000													7	23					0	0	0.001984	0	0
LRP4	4038	broad.mit.edu	37	11	46914568	46914568	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:46914568C>T	ENST00000378623.1	-	13	1895	c.1653G>A	c.(1651-1653)caG>caA	p.Q551Q		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	551					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCTCCAGGTTCTGCCACAGCA	0.577000													11	22					0	0	0.004007	0	0
RETSAT	54884	broad.mit.edu	37	2	85577189	85577189	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:85577189A>G	ENST00000295802.4	-	4	885	c.773T>C	c.(772-774)gTa>gCa	p.V258A	RETSAT_ENST00000457495.2_Missense_Mutation_p.V197A|RETSAT_ENST00000263854.6_Missense_Mutation_p.V258A	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	258					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GTAGCTGAGTACTGCCTGGAG	0.592000													16	60					0	0	0.004007	0	0
CD81-AS1	101927682	broad.mit.edu	37	11	2356962	2356962	+	RNA	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:2356962G>A	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							CCGAGGTAACGAAGGGATTGA	0.517000													62	104					0	0	0.014410	0	0
ITGB5	3693	broad.mit.edu	37	3	124515313	124515313	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:124515313C>G	ENST00000296181.4	-	10	1911	c.1615G>C	c.(1615-1617)Gag>Cag	p.E539Q	ITGB5_ENST00000488466.1_5'UTR	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	539	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TTGCCAAACTCGCTCTCGAAG	0.597000													51	85					0	0	0.014410	0	0
FBN2	2201	broad.mit.edu	37	5	127730852	127730852	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:127730852G>A	ENST00000508053.1	-	15	2168	c.1194C>T	c.(1192-1194)atC>atT	p.I398I	FBN2_ENST00000508989.1_Silent_p.I365I|FBN2_ENST00000262464.4_Silent_p.I398I			P35556	FBN2_HUMAN	fibrillin 2	398	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GAATGGTTCCGATGCCCCAGC	0.557000													25	23					0	0	0.003330	0	0
DNAH1	25981	broad.mit.edu	37	3	52394357	52394357	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:52394357C>T	ENST00000420323.2	+	28	4863	c.4602C>T	c.(4600-4602)atC>atT	p.I1534I		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1534	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCTGTATATCCGTGCTGTGA	0.552000													19	47					0	0	0.010504	0	0
SQLE	6713	broad.mit.edu	37	8	126017847	126017847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:126017847C>T	ENST00000265896.5	+	3	1523	c.625C>T	c.(625-627)Cct>Tct	p.P209S	SQLE_ENST00000523430.1_Missense_Mutation_p.P114S	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	209					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	GGTTCAGATTCCTTACCCTCT	0.448000													66	91					0	0	0.014410	0	0
TPTE	7179	broad.mit.edu	37	21	10916423	10916423	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr21:10916423A>T	ENST00000298232.7	-	19	1536	c.1169T>A	c.(1168-1170)cTc>cAc	p.L390H	TPTE_ENST00000415664.2_Intron|TPTE_ENST00000361285.4_Missense_Mutation_p.L408H|TPTE_ENST00000342420.5_Missense_Mutation_p.L370H	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	408	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTTGGAGGGAGATTCCAGTT	0.358000													17	111					0	0	0.007413	0	0
DLC1	10395	broad.mit.edu	37	8	12957134	12957134	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:12957134G>A	ENST00000276297.4	-	9	3121	c.2712C>T	c.(2710-2712)ccC>ccT	p.P904P	DLC1_ENST00000358919.2_Silent_p.P467P|DLC1_ENST00000520226.1_Silent_p.P393P|DLC1_ENST00000512044.2_Silent_p.P501P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	904					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGTCCAGCTCGGGGAAGATGT	0.582000													11	28					0	0	0.013537	0	0
RGS18	64407	broad.mit.edu	37	1	192153442	192153442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:192153442C>T	ENST00000367460.3	+	5	647	c.466C>T	c.(466-468)Cac>Tac	p.H156Y		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	156	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCTTGATTTTCACACAAAAGA	0.363000													25	32					0	0	0.003330	0	0
MORN3	283385	broad.mit.edu	37	12	122092317	122092317	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:122092317C>T	ENST00000355329.3	-	3	496	c.326G>A	c.(325-327)gGa>gAa	p.G109E		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	109										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CTCCTTGGGTCCGAAAAACTG	0.587000													4	12					0	0	0.001984	0	0
RERGL	79785	broad.mit.edu	37	12	18234147	18234147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:18234147C>T	ENST00000229002.2	-	6	802	c.596G>A	c.(595-597)gGa>gAa	p.G199E	RERGL_ENST00000538724.1_Missense_Mutation_p.G198E	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	199	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CCTTCTCTTTCCAAATACATT	0.338000													4	21					0	0	0.000602	0	0
ARID5B	84159	broad.mit.edu	37	10	63852746	63852746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr10:63852746C>T	ENST00000279873.7	+	10	3934	c.3524C>T	c.(3523-3525)cCa>cTa	p.P1175L	ARID5B_ENST00000309334.5_Missense_Mutation_p.P932L	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1175					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GCTGCCTTTCCATCTTCCCAG	0.512000													18	51					0	0	0.006122	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115133	220115133	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:220115133T>A	ENST00000392088.2	-	4	1798	c.1243A>T	c.(1243-1245)Aag>Tag	p.K415*	TUBA4A_ENST00000248437.4_Nonsense_Mutation_p.K430*	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	430					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATAATCCTTCTCCAGGGCA	0.527000													33	102					0	0	0.009535	0	0
VSIG8	391123	broad.mit.edu	37	1	159827553	159827553	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:159827553G>T	ENST00000368100.1	-	4	769	c.634C>A	c.(634-636)Cac>Aac	p.H212N		NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	212	Ig-like V-type 2.					integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					ATGGAGCTGTGGAAGGACTCC	0.572000													23	27					1.12875e-08	1.16051e-08	0.006320	1	0
COL11A1	1301	broad.mit.edu	37	1	103428226	103428226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:103428226C>T	ENST00000358392.2	-	39	3360	c.3043G>A	c.(3043-3045)Gga>Aga	p.G1015R	COL11A1_ENST00000353414.4_Missense_Mutation_p.G964R|COL11A1_ENST00000512756.1_Missense_Mutation_p.G887R|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1003R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1003	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTTCTTTTCCTGCAGCACCA	0.473000													50	110					0	0	0.014410	0	0
RETSAT	54884	broad.mit.edu	37	2	85576630	85576630	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:85576630G>T	ENST00000295802.4	-	5	986	c.874C>A	c.(874-876)Ccc>Acc	p.P292T	RETSAT_ENST00000457495.2_Missense_Mutation_p.P231T|RETSAT_ENST00000263854.6_Missense_Mutation_p.P292T	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	292					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CCCCCTCGGGGATAAAAGCCT	0.572000													33	50					7.11191e-15	7.35982e-15	0.013726	1	0
SPNS1	83985	broad.mit.edu	37	16	28990565	28990565	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr16:28990565C>T	ENST00000311008.11	+	4	911	c.534C>T	c.(532-534)ctC>ctT	p.L178L	SPNS1_ENST00000323081.8_Silent_p.L105L|SPNS1_ENST00000565975.1_Silent_p.L223L|SPNS1_ENST00000561868.1_3'UTR|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000352260.7_Silent_p.L156L|SPNS1_ENST00000334536.8_Silent_p.L178L	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	178					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TTGCCGACCTCTTTGTGGCCG	0.652000													21	89					0	0	0.012319	0	0
FAT3	120114	broad.mit.edu	37	11	92086741	92086741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:92086741G>A	ENST00000298047.6	+	1	1480	c.1463G>A	c.(1462-1464)gGa>gAa	p.G488E	FAT3_ENST00000525166.1_Missense_Mutation_p.G338E|FAT3_ENST00000409404.2_Missense_Mutation_p.G488E|FAT3_ENST00000541502.1_Missense_Mutation_p.G488E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	488	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTCCCAGTGGGAACCAGCGTT	0.418000										TCGA Ovarian(4;0.039)			229	371					0	0	0.014410	0	0
SLC25A18	83733	broad.mit.edu	37	22	18069942	18069942	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr22:18069942C>T	ENST00000327451.5	+	8	988	c.450C>T	c.(448-450)tcC>tcT	p.S150S	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000399813.1_Silent_p.S150S	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	150						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	CCTCCACCTCCAGGTCCTACA	0.617000													58	130					0	0	0.014410	0	0
KIF18A	81930	broad.mit.edu	37	11	28090911	28090911	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:28090911C>T	ENST00000263181.6	-	11	1775	c.1485G>A	c.(1483-1485)gaG>gaA	p.E495E		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	495					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						CCCTCCTTTTCTCCAGGTAGG	0.388000													30	43					0	0	0.007291	0	0
BMX	660	broad.mit.edu	37	X	15555305	15555305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:15555305G>A	ENST00000357607.2	+	14	1459	c.1271G>A	c.(1270-1272)gGa>gAa	p.G424E	BMX_ENST00000348343.6_Missense_Mutation_p.G424E|BMX_ENST00000342014.6_Missense_Mutation_p.G424E			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	424	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AAGGAGCTGGGAAGTGGCCAG	0.483000													89	30					0	0	0.014410	0	0
CHRNA6	8973	broad.mit.edu	37	8	42620267	42620267	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:42620267T>A	ENST00000276410.2	-	2	515	c.160A>T	c.(160-162)Aac>Tac	p.N54Y	CHRNA6_ENST00000530869.1_5'UTR|CHRNA6_ENST00000534622.1_Missense_Mutation_p.N54Y	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	54						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TCGGAAACGTTTTCCACAGGC	0.527000													66	100					0	0	0.014410	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117789285	117789285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:117789285G>A	ENST00000528626.1	-	2	363	c.290C>T	c.(289-291)tCc>tTc	p.S97F	TMPRSS13_ENST00000430170.2_Missense_Mutation_p.S97F|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.S97F|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.S97F|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.S97F	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	92					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TGAGGACCTGGAAAGTGATGC	0.632000													11	49					0	0	0.013537	0	0
CXorf67	340602	broad.mit.edu	37	X	51151080	51151080	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:51151080C>T	ENST00000342995.2	+	1	1314	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						GGCATGCAGTCCGTATGCGTG	0.597000													25	5					0	0	0.008361	0	0
HPSE	10855	broad.mit.edu	37	4	84227368	84227368	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:84227368G>A	ENST00000405413.2	-	10	1330	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	HPSE_ENST00000513463.1_Silent_p.F340F|HPSE_ENST00000512196.1_Intron|HPSE_ENST00000311412.5_Silent_p.F398F	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	398					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	GTAAAGGATCGAAGTTTTCAT	0.428000													29	57					0	0	0.012213	0	0
EPHB3	2049	broad.mit.edu	37	3	184294969	184294969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:184294969C>T	ENST00000330394.2	+	5	1804	c.1352C>T	c.(1351-1353)gCt>gTt	p.A451V	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	451						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACAAACCAGGCTGGTGAGGAG	0.617000													7	15					0	0	0.001984	0	0
OR51A2	401667	broad.mit.edu	37	11	4976408	4976408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:4976408G>A	ENST00000380371.1	-	1	535	c.536C>T	c.(535-537)tCc>tTc	p.S179F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGACAGTAGGAATGGGATAA	0.408000													56	111					0	0	0.014410	0	0
THSD7A	221981	broad.mit.edu	37	7	11676191	11676191	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr7:11676191G>A	ENST00000423059.3	-	2	839	c.588C>T	c.(586-588)atC>atT	p.I196I		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	196	TSP type-1 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATTCAGACACGATGCAATCTT	0.577000										HNSCC(18;0.044)			24	46					0	0	0.003954	0	0
OR4M2	390538	broad.mit.edu	37	15	22369431	22369431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:22369431C>T	ENST00000332663.2	+	1	954	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTACGTAATCCCATTATTTA	0.363000													24	84					0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179554063	179554063	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:179554063C>T	ENST00000589042.1	-	124	32189	c.31965G>A	c.(31963-31965)agG>agA	p.R10655R	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.R10338R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.R9411R|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10338	Glu-rich.|Pro-rich.						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)			GAACAGGTTTCCTTTCTTCAG	0.363000													9	44					0	0	0.004482	0	0
GPM6A	2823	broad.mit.edu	37	4	176594877	176594877	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:176594877T>C	ENST00000280187.7	-	4	386	c.341A>G	c.(340-342)tAt>tGt	p.Y114C	GPM6A_ENST00000393658.2_Missense_Mutation_p.Y114C|GPM6A_ENST00000506894.1_Missense_Mutation_p.Y103C|GPM6A_ENST00000515090.1_Missense_Mutation_p.Y107C	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	114						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GAAATCCCCATAGAGATCTTT	0.423000													19	29					0	0	0.008871	0	0
ITGB2	3689	broad.mit.edu	37	21	46309893	46309893	+	Splice_Site	SNP	C	C	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr21:46309893C>A	ENST00000397850.2	-	13	2109	c.1657_splice	c.e13+1	p.G553_splice	ITGB2_ENST00000397852.1_Splice_Site_p.G553_splice|ITGB2_ENST00000302347.5_Splice_Site_p.G553_splice|ITGB2_ENST00000397857.1_Splice_Site_p.G553_splice|ITGB2_ENST00000355153.4_Splice_Site_p.G553_splice|ITGB2_ENST00000397854.3_Splice_Site_p.G496_splice			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	553	Cysteine-rich tandem repeats.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	ACGGGCTCACCCGGGCCGCCG	0.637000													32	37					1.71298e-08	1.75928e-08	0.003755	1	0
PAMR1	25891	broad.mit.edu	37	11	35454302	35454302	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:35454302T>C	ENST00000378880.2	-	11	2210	c.1765A>G	c.(1765-1767)Act>Gct	p.T589A	PAMR1_ENST00000378878.3_Missense_Mutation_p.T478A|PAMR1_ENST00000278360.3_Missense_Mutation_p.T606A|PAMR1_ENST00000532848.1_Missense_Mutation_p.T549A	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	589	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGGAAGGAAGTGCTGAGATCC	0.602000													26	32					0	0	0.007291	0	0
VWA9	81556	broad.mit.edu	37	15	65883976	65883976	+	Silent	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr15:65883976G>A	ENST00000395644.4	-	9	1415	c.1080C>T	c.(1078-1080)ctC>ctT	p.L360L	VWA9_ENST00000313182.2_Silent_p.L360L|VWA9_ENST00000431261.2_Silent_p.L281L|VWA9_ENST00000569491.1_Silent_p.L310L|VWA9_ENST00000567744.1_Silent_p.L396L|VWA9_ENST00000420799.2_Silent_p.L303L|VWA9_ENST00000442903.3_Silent_p.L324L					von Willebrand factor A domain containing 9																		CTAGCCATGGGAGAGGTTCTG	0.443000													22	35					0	0	0.012319	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768288	140768288	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:140768288C>T	ENST00000519479.1	+	1	837	c.837C>T	c.(835-837)ttC>ttT	p.F279F	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATTACTTTCTCTTTCAGTG	0.453000													19	65					0	0	0.007413	0	0
FMNL2	114793	broad.mit.edu	37	2	153405583	153405583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:153405583G>A	ENST00000288670.9	+	4	698	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	111	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AAGAGAACTGGAAATTTCTTT	0.343000													8	15					0	0	0.004482	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978578	10978578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr12:10978578C>T	ENST00000240619.2	-	1	379	c.291G>A	c.(289-291)tgG>tgA	p.W97*		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	97					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGTGGCAAACCACATACTTG	0.348000													30	38					0	0	0.012213	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720598	140720598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:140720598C>T	ENST00000394576.2	+	1	2060	c.2060C>T	c.(2059-2061)tCg>tTg	p.S687L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAACGATTCGGACCTCACT	0.682000													42	113					0	0	0.014410	0	0
SULT1E1	6783	broad.mit.edu	37	4	70721127	70721127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr4:70721127C>T	ENST00000226444.3	-	3	275	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	55					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TACACAATTTCACTAACCCAG	0.358000													20	39					0	0	0.012319	0	0
LAMC2	3918	broad.mit.edu	37	1	183212514	183212514	+	Silent	SNP	C	C	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:183212514C>A	ENST00000264144.4	+	23	3626	c.3561C>A	c.(3559-3561)acC>acA	p.T1187T		NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1187	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GCTACAATACCCAGGCTCTTG	0.507000													4	119					0.000602214	0.000615165	0.000602	1	0
DLEC1	9940	broad.mit.edu	37	3	38155851	38155851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:38155851G>A	ENST00000308059.6	+	26	3706	c.3685G>A	c.(3685-3687)Gaa>Aaa	p.E1229K	DLEC1_ENST00000452631.2_Missense_Mutation_p.E1232K|DLEC1_ENST00000346219.3_Missense_Mutation_p.E1229K			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1229					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCTGCTGCCGGAAGTCATCCC	0.617000													21	46					0	0	0.010504	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693133	187693133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:187693133G>A	ENST00000295131.2	-	9	1519	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	494					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AGATACCTGGGAAAATGTTGG	0.318000													21	31					0	0	0.010504	0	0
FAT3	120114	broad.mit.edu	37	11	92086899	92086899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:92086899G>A	ENST00000298047.6	+	1	1638	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	FAT3_ENST00000525166.1_Missense_Mutation_p.E391K|FAT3_ENST00000409404.2_Missense_Mutation_p.E541K|FAT3_ENST00000541502.1_Missense_Mutation_p.E541K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	541	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCCTCCCCAGAAATTTACAG	0.398000										TCGA Ovarian(4;0.039)			272	472					0	0	0.014410	0	0
KL	9365	broad.mit.edu	37	13	33628014	33628014	+	Silent	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr13:33628014C>T	ENST00000380099.3	+	2	938	c.930C>T	c.(928-930)gaC>gaT	p.D310D	KL_ENST00000426690.2_Silent_p.D3D|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	310	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GAATGACCGACCACAGCATCA	0.453000													37	84					0	0	0.003755	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764018	77764018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr8:77764018G>A	ENST00000521891.2	+	10	5309	c.4861G>A	c.(4861-4863)Gct>Act	p.A1621T	ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1576T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1595T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1576T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1576						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAGACAAAGGCTAGGGCTGC	0.517000										HNSCC(33;0.089)			29	47					0	0	0.013726	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966394	23966394	+	Silent	SNP	G	G	A	rs148590178		TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr20:23966394G>A	ENST00000335694.4	-	5	645	c.441C>T	c.(439-441)ttC>ttT	p.F147F	GGTLC1_ENST00000286890.4_Silent_p.F147F|GGTLC1_ENST00000278765.4_Silent_p.F147F	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	147							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CGTCATAGCCGAACCAGAGGT	0.612000													38	179					0	0	0.004878	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140735431	140735431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:140735431C>T	ENST00000571252.1	+	1	664	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCCGGTTCGCTCTGGCAC	0.547000													5	16					0	0	0.000602	0	0
CELA3B	23436	broad.mit.edu	37	1	22310316	22310319	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr1:22310316_22310319delTCTC	ENST00000337107.6	+	5	511_514	c.492_495delTCTC	c.(490-495)cgfs	p.RL164fs		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	164	Peptidase S1.			R -> P (in Ref. 5; AAA36482).	cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GCTGGGGCCGTCTCTATAGTACGT	0.618													57	99	---	---	---	---					
KRT8P40	100418728	broad.mit.edu	37	2	178063145	178063168	+	RNA	DEL	TGGGCTCCAGCTTTGGCTCTGGCG	TGGGCTCCAGCTTTGGCTCTGGCG	-			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr2:178063145_178063168delTGGGCTCCAGCTTTGGCTCTGGCG	ENST00000455416.1	-	0	166																											AGCTACGGCCTGGGCTCCAGCTTTGGCTCTGGCGTGGGCTCCAG	0.598													11	10	---	---	---	---					
DIRC2	84925	broad.mit.edu	37	3	122525730	122525733	+	Frame_Shift_Del	DEL	TCCT	TCCT	-			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:122525730_122525733delTCCT	ENST00000261038.5	+	2	768_771	c.370_373delTCCT	c.(370-375)tcfs	p.SF124fs		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	124					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GCTCCTGACATCCTTCCTTATGGT	0.328													23	54	---	---	---	---					
MBNL1	4154	broad.mit.edu	37	3	152018127	152018128	+	Frame_Shift_Ins	INS	-	-	GAGT			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr3:152018127_152018128insGAGT	ENST00000282486.6	+	2	1987_1988	c.145_146insGAGT	c.(145-147)agtfs	p.S49fs	MBNL1_ENST00000463374.1_Frame_Shift_Ins_p.S49fs|MBNL1_ENST00000324210.5_Frame_Shift_Ins_p.S49fs|MBNL1_ENST00000324196.5_Frame_Shift_Ins_p.S49fs|MBNL1_ENST00000282488.7_Frame_Shift_Ins_p.S49fs|MBNL1_ENST00000485910.1_Frame_Shift_Ins_p.S49fs|MBNL1_ENST00000545754.1_Frame_Shift_Ins_p.S49fs|MBNL1_ENST00000485509.1_Frame_Shift_Ins_p.S49fs|MBNL1_ENST00000492948.1_Frame_Shift_Ins_p.S49fs|MBNL1_ENST00000355460.2_Frame_Shift_Ins_p.S49fs|MBNL1_ENST00000498502.1_Frame_Shift_Ins_p.S49fs|MBNL1_ENST00000357472.3_Frame_Shift_Ins_p.S49fs|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000461436.1_3'UTR			Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	49					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TGAAAATGGACGAGTAATCGCC	0.406													35	75	---	---	---	---					
LMNB1	4001	broad.mit.edu	37	5	126145890	126145891	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr5:126145890_126145891insG	ENST00000261366.5	+	4	1022_1023	c.661_662insG	c.(661-663)gaafs	p.E221fs	LMNB1_ENST00000460265.1_3'UTR|LMNB1_ENST00000395354.1_Frame_Shift_Ins_p.E221fs	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	221	Linker 2.|Rod.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		CGAGACCAGAAGGAAGCATGAA	0.465													40	69	---	---	---	---					
HLA-A	3105	broad.mit.edu	37	6	29911319	29911319	+	Splice_Site	DEL	G	G	-	rs115073453	by1000genomes	TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr6:29911319delG	ENST00000396634.1	+	5	959	c.619_splice	c.e5+1	p.T206_splice	HLA-A_ENST00000376802.2_Splice_Site_p.T206_splice|HLA-A_ENST00000376806.5_Splice_Site_p.T206_splice|HLA-A_ENST00000376809.5_Splice_Site_p.T206_splice			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	206	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGCAGCGCACGGGTACCAGGG	0.637									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			17	69	---	---	---	---					
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chr11:76506673_76506675delCTG	ENST00000527881.1	+	2	1039_1041	c.13_15delCTG	c.(13-15)del	p.L9del	TSKU_ENST00000333090.4_In_Frame_Del_p.L9del			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	9						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616													9	97	---	---	---	---					
DDX3X	1654	broad.mit.edu	37	X	41203282	41203282	+	Splice_Site	DEL	G	G	-			TCGA-EE-A2GP-06A-11D-A197-08	TCGA-EE-A2GP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55fce20-893a-4a0a-8127-dc38affb1bb6	74bb2531-04f4-4ef5-bcc8-7796d33f5248	g.chrX:41203282delG	ENST00000399959.2	+	9	1620		c.e9-1		DDX3X_ENST00000542215.1_Splice_Site|DDX3X_ENST00000478993.1_Splice_Site|DDX3X_ENST00000457138.2_Splice_Site|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked						interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTATTTCTTAGGAAAATGGAA	0.373										HNSCC(61;0.18)			4	2	---	---	---	---