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
CA10	56934	broad.mit.edu	37	17	49708945	49708945	+	Nonstop_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:49708945C>A	ENST00000451037.2	-	9	1927	c.987G>T	c.(985-987)taG>taT	p.*329Y	CA10_ENST00000570565.1_Nonstop_Mutation_p.*254Y|CA10_ENST00000340813.6_Nonstop_Mutation_p.*335Y|CA10_ENST00000285273.4_Nonstop_Mutation_p.*329Y|CA10_ENST00000442502.2_Nonstop_Mutation_p.*329Y	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	0					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GCTTTGTTCCCTACTTGAGGA	0.398000													93	66					7.35649e-22	2.30146e-20	0.000781405	1	0
RGS12	6002	broad.mit.edu	37	4	3318150	3318150	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:3318150G>T	ENST00000336727.3	+	2	1157	c.253G>T	c.(253-255)Ggg>Tgg	p.G85W	RGS12_ENST00000382788.3_Missense_Mutation_p.G85W|RGS12_ENST00000344733.5_Missense_Mutation_p.G85W|RGS12_ENST00000543385.1_Missense_Mutation_p.G85W	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	85	PDZ.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAAATTAATTGGGAAGTGCTC	0.488000													11	50					5.50884e-06	7.19342e-05	0.00010058	1	0
FBXO10	26267	broad.mit.edu	37	9	37521655	37521655	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:37521655C>A	ENST00000432825.2	-	8	2159	c.2111G>T	c.(2110-2112)tGg>tTg	p.W704L	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.W229L	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	704						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CTCTGTCTCCCAGAGGATGGC	0.542000													8	62					0.000274275	0.00316013	0.000274275	1	0
ZRANB3	84083	broad.mit.edu	37	2	136033229	136033229	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:136033229T>G	ENST00000401392.1	-	9	1275	c.1063A>C	c.(1063-1065)Aca>Cca	p.T355P	ZRANB3_ENST00000264159.6_Missense_Mutation_p.T355P|ZRANB3_ENST00000536680.1_Missense_Mutation_p.T355P			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	355	Helicase C-terminal.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		ACTGCTTCTGTGCAAGCTTGG	0.328000													9	27					0	0	6.40141e-05	0	0
ETV6	2120	broad.mit.edu	37	12	12022795	12022795	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:12022795G>T	ENST00000396373.4	+	5	1175	c.901G>T	c.(901-903)Ggg>Tgg	p.G301W		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	301						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GCATAGGGAAGGGAAGCCCAT	0.592000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								31	42					7.11191e-15	1.70421e-13	0.000491102	1	0
ITGAX	3687	broad.mit.edu	37	16	31373991	31373991	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:31373991C>A	ENST00000268296.4	+	12	1397	c.1276C>A	c.(1276-1278)Cgc>Agc	p.R426S	ITGAX_ENST00000562522.1_Missense_Mutation_p.R426S	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	426					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGGGGCCCCCCGCTACCAGCA	0.657000													7	6					8.12818e-05	0.000981702	8.12818e-05	1	0
RNF213	57674	broad.mit.edu	37	17	78321960	78321960	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:78321960G>T	ENST00000582970.1	+	29	9968	c.9825G>T	c.(9823-9825)ctG>ctT	p.L3275L	RNF213_ENST00000336301.6_Silent_p.L1348L|RNF213_ENST00000508628.2_Silent_p.L3324L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCTACTCGCTGGGCGGGTTCG	0.602000													17	49					1.56452e-12	3.27822e-11	0.000958276	1	0
DGKQ	1609	broad.mit.edu	37	4	960292	960292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:960292C>T	ENST00000273814.3	-	12	1463	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	464	Ras-associating.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGGGGCTGTTCGTCCATCAGC	0.701000													26	8					0	0	0.000184323	0	0
RAPH1	65059	broad.mit.edu	37	2	204305427	204305427	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:204305427G>T	ENST00000319170.5	-	14	2785	c.2486C>A	c.(2485-2487)cCt>cAt	p.P829H	RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Missense_Mutation_p.P881H	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	829					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGAGGGGTAGGGGGAGAGGG	0.587000													17	21					8.60227e-14	1.95723e-12	0.000422831	1	0
PNMA3	29944	broad.mit.edu	37	X	152225667	152225667	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chrX:152225667G>T	ENST00000447306.1	+	2	591	c.255G>T	c.(253-255)aaG>aaT	p.K85N	PNMA3_ENST00000370265.4_Missense_Mutation_p.K85N|PNMA3_ENST00000370264.4_Missense_Mutation_p.K85N	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	85					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					taccaggaaagggggggccct	0.532000													12	7					2.23348e-06	3.02158e-05	0.000422831	1	0
SLIT2	9353	broad.mit.edu	37	4	20598100	20598100	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:20598100T>C	ENST00000504154.1	+	32	3635	c.3383T>C	c.(3382-3384)tTt>tCt	p.F1128S	SLIT2_ENST00000503837.1_Missense_Mutation_p.F1124S|SLIT2_ENST00000273739.5_Missense_Mutation_p.F1141S|SLIT2_ENST00000503823.1_Missense_Mutation_p.F1120S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1128	EGF-like 6.				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			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						TGTGATAATTTTGATTGTCAG	0.403000													47	31					0	0	0.000781405	0	0
PCDH19	57526	broad.mit.edu	37	X	99661580	99661580	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chrX:99661580C>A	ENST00000373034.4	-	1	3691	c.2016G>T	c.(2014-2016)atG>atT	p.M672I	PCDH19_ENST00000420881.2_Missense_Mutation_p.M672I|PCDH19_ENST00000255531.7_Missense_Mutation_p.M672I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	672	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCACAGAGCCCATTGACTCTT	0.512000													16	4					1.67942e-08	2.74122e-07	0.00074312	1	0
DGKZ	8525	broad.mit.edu	37	11	46391559	46391559	+	Splice_Site	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:46391559G>T	ENST00000454345.1	+	7	1259	c.1134_splice	c.e7+1	p.K378_splice	DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000421244.2_Splice_Site_p.K190_splice|DGKZ_ENST00000527911.1_Splice_Site_p.K190_splice|DGKZ_ENST00000343674.6_Splice_Site_p.K206_splice|DGKZ_ENST00000395574.3_Splice_Site_p.K156_splice|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000532868.2_Splice_Site_p.K194_splice|DGKZ_ENST00000456247.2_Splice_Site_p.K189_splice|DGKZ_ENST00000528615.1_5'UTR	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	378					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		ACTGTGGGAAGGTGAGAGGCC	0.637000											OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	24					0.00010058	0.00120189	0.00010058	1	0
CASC1	55259	broad.mit.edu	37	12	25302633	25302633	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:25302633G>A	ENST00000354189.5	-	7	723	c.688C>T	c.(688-690)Caa>Taa	p.Q230*	CASC1_ENST00000320267.9_Nonsense_Mutation_p.Q166*|CASC1_ENST00000545133.1_Nonsense_Mutation_p.Q107*|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395987.3_Nonsense_Mutation_p.Q172*|CASC1_ENST00000537577.1_Nonsense_Mutation_p.Q54*|CASC1_ENST00000395990.2_Nonsense_Mutation_p.Q126*	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	166										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ATTGATTCTTGGTACTGTATT	0.294000													20	32					0	0	0.000229342	0	0
FAM20A	54757	broad.mit.edu	37	17	66538276	66538276	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:66538276G>T	ENST00000592554.1	-	7	1681	c.959C>A	c.(958-960)cCa>cAa	p.P320Q	FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	320						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GCACATGTATGGACACTTGGC	0.602000													6	35					3.59834e-05	0.000447804	3.59834e-05	1	0
FCGBP	8857	broad.mit.edu	37	19	40412158	40412158	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:40412158G>T	ENST00000221347.6	-	7	3477	c.3470C>A	c.(3469-3471)cCa>cAa	p.P1157Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1157	Cys-rich.|TIL 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCGGGCACTGGGAGGTCTCC	0.642000													13	23					1.52009e-12	3.20001e-11	0.000308642	1	0
PRR13	54458	broad.mit.edu	37	12	53839807	53839807	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:53839807C>A	ENST00000429243.2	+	4	619	c.411C>A	c.(409-411)tcC>tcA	p.S137S	PRR13_ENST00000379786.4_Silent_p.S87S|PRR13_ENST00000549135.1_Silent_p.S137S|PRR13_ENST00000549924.1_Silent_p.S137S|PRR13_ENST00000549581.1_Silent_p.S87S|PRR13_ENST00000551003.1_Silent_p.S105S|PRR13_ENST00000546581.1_Silent_p.S41S|PRR13_ENST00000549068.1_3'UTR|RP11-793H13.8_ENST00000547717.1_RNA|PRR13_ENST00000547368.1_Silent_p.S151S|PCBP2_ENST00000541275.1_Intron	NM_001005354.2|NM_018457.3	NP_001005354.1|NP_060927.1	Q9NZ81	PRR13_HUMAN	proline rich 13	137	Ser-rich.			S -> P (in Ref. 3; CAE45980).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(1)|urinary_tract(1)	6						AGCATTCCTCCTCTTCCTCCT	0.532000													38	51					8.48111e-28	3.03233e-26	0.000781405	1	0
JUP	3728	broad.mit.edu	37	17	39912104	39912104	+	Silent	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:39912104G>A	ENST00000393931.3	-	14	2248	c.2130C>T	c.(2128-2130)ccC>ccT	p.P710P	JUP_ENST00000393930.1_Silent_p.P710P|JUP_ENST00000310706.5_Silent_p.P710P|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	710					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCGGGTCAAGGGGCACATCGC	0.617000													7	20					0	0	8.12818e-05	0	0
HDAC10	83933	broad.mit.edu	37	22	50686183	50686183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:50686183C>T	ENST00000216271.5	-	14	1712	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	HDAC10_ENST00000349505.4_Missense_Mutation_p.E434K|HDAC10_ENST00000448072.1_Missense_Mutation_p.E404K|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	454					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGGCCTCCTCCCGGGCCAGG	0.632000													6	24					0	0	0.000274275	0	0
DNAH17	8632	broad.mit.edu	37	17	76535915	76535915	+	Silent	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:76535915C>T	ENST00000389840.5	-	18	2704	c.2580G>A	c.(2578-2580)aaG>aaA	p.K860K	DNAH17_ENST00000585328.1_Silent_p.K860K					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGACATAATCCTTCCAGGGCA	0.453000													24	53					0	0	0.000586117	0	0
CEACAM19	56971	broad.mit.edu	37	19	45183602	45183602	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:45183602T>G	ENST00000358777.4	+	5	1182	c.702T>G	c.(700-702)gaT>gaG	p.D234E	CEACAM19_ENST00000480278.1_3'UTR|CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000403660.3_Missense_Mutation_p.D234E	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	234						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CTGCTCATGATGCTGGTAAGG	0.557000													75	139					0	0	0.000781405	0	0
FGFR2	2263	broad.mit.edu	37	10	123325091	123325091	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr10:123325091C>A	ENST00000358487.5	-	3	509	c.237G>T	c.(235-237)ttG>ttT	p.L79F	FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000369060.4_Missense_Mutation_p.L79F|FGFR2_ENST00000457416.2_Missense_Mutation_p.L79F|FGFR2_ENST00000351936.6_Missense_Mutation_p.L79F|FGFR2_ENST00000346997.2_Missense_Mutation_p.L79F|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000359354.2_Missense_Mutation_p.L79F|FGFR2_ENST00000369056.1_Missense_Mutation_p.L79F|FGFR2_ENST00000369061.4_Missense_Mutation_p.L79F|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000357555.5_Intron	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	79	Ig-like C2-type 1.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TGTTGGGCCCCAAGTGCACCC	0.567000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				31	58					9.04072e-19	2.52972e-17	0.00058488	1	0
SLC30A9	10463	broad.mit.edu	37	4	42003751	42003751	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:42003751G>T	ENST00000264451.6	+	2	408	c.228G>T	c.(226-228)caG>caT	p.Q76H		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	76					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAGAAGGACAGGGATCACAAA	0.353000													10	42					0.000673444	0.00760367	0.000673444	1	0
OR2F2	135948	broad.mit.edu	37	7	143633062	143633062	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:143633062C>A	ENST00000408955.2	+	1	804	c.737C>A	c.(736-738)aCg>aAg	p.T246K		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TCTCACCTCACGGTGGTTGCC	0.517000													22	27					7.87624e-14	1.80114e-12	0.000375601	1	0
PLEKHM1P	440456	broad.mit.edu	37	17	62817966	62817966	+	RNA	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:62817966G>T	ENST00000582986.1	-	0	532					NR_024386.1																						GCAATGGTCTGGACTCTTGGA	0.567000													7	30					2.68362e-12	5.54574e-11	0.00010058	1	0
LRIT2	340745	broad.mit.edu	37	10	85982090	85982090	+	Silent	SNP	G	G	T	rs74145771	by1000genomes	TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr10:85982090G>T	ENST00000372113.4	-	3	1244	c.1239C>A	c.(1237-1239)ccC>ccA	p.P413P	LRIT2_ENST00000538192.1_Silent_p.P423P	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	413	Fibronectin type-III.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TATTGATTCCGGGGCCAATGT	0.552000													37	38					4.62619e-21	1.43731e-19	0.000814825	1	0
ODF2L	57489	broad.mit.edu	37	1	86852689	86852689	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:86852689C>A	ENST00000359242.3	-	2	303	c.22G>T	c.(22-24)Gga>Tga	p.G8*	ODF2L_ENST00000317336.7_Nonsense_Mutation_p.G8*|ODF2L_ENST00000294678.2_Nonsense_Mutation_p.G8*|ODF2L_ENST00000370567.1_Nonsense_Mutation_p.G8*|ODF2L_ENST00000394731.1_5'UTR|ODF2L_ENST00000478286.2_Nonsense_Mutation_p.G8*|ODF2L_ENST00000370566.3_Nonsense_Mutation_p.G8*|ODF2L_ENST00000486215.1_Nonsense_Mutation_p.G8*	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	8						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		GAATGACTTCCATCATTTACA	0.368000													25	31					3.01185e-09	5.10089e-08	0.000586117	1	0
STOX2	56977	broad.mit.edu	37	4	184938351	184938351	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:184938351C>A	ENST00000308497.4	+	4	4130	c.2695C>A	c.(2695-2697)Cga>Aga	p.R899R		NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	899					embryo development|maternal placenta development			p.R899*(1)		breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTTCAACTTCCGAGCGAGCGC	0.547000													4	7					0.00024832	0.00289065	0.00024832	1	0
TBX15	6913	broad.mit.edu	37	1	119427633	119427633	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:119427633G>T	ENST00000369429.3	-	8	1540	c.1531C>A	c.(1531-1533)Ctt>Att	p.L511I	TBX15_ENST00000207157.3_Missense_Mutation_p.L405I			Q96SF7	TBX15_HUMAN	T-box 15	511						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGGTTGTGAAGGGAGAAGGCA	0.532000													4	13					1.024e-07	1.56377e-06	0.000602214	1	0
AGRN	375790	broad.mit.edu	37	1	979052	979052	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:979052C>A	ENST00000379370.2	+	9	1788	c.1738C>A	c.(1738-1740)Ctg>Atg	p.L580M		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	580	Kazal-like 6.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CGAGTGCATGCTGCACGTGCA	0.701000													14	33					2.23348e-06	3.02158e-05	0.000422831	1	0
SPOCK1	6695	broad.mit.edu	37	5	136328235	136328235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:136328235C>T	ENST00000394945.1	-	7	813	c.644G>A	c.(643-645)gGa>gAa	p.G215E	SPOCK1_ENST00000282223.7_Missense_Mutation_p.G215E	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	215					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGGAGAGCTCCAAACCAATC	0.498000													25	40					0	0	0.000878237	0	0
HDAC10	83933	broad.mit.edu	37	22	50686341	50686341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:50686341C>T	ENST00000216271.5	-	13	1667	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	HDAC10_ENST00000349505.4_Missense_Mutation_p.E419K|HDAC10_ENST00000448072.1_Missense_Mutation_p.E389K|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	439					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCTGTCTCCTCCCTCAGGGCT	0.647000													20	8					0	0	0.00047179	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634712	70634712	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr14:70634712G>A	ENST00000381269.2	-	2	1181	c.428C>T	c.(427-429)tCc>tTc	p.S143F	SLC8A3_ENST00000356921.2_Missense_Mutation_p.S143F|SLC8A3_ENST00000528359.1_Missense_Mutation_p.S143F|SLC8A3_ENST00000357887.3_Missense_Mutation_p.S143F|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S143F	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	143					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGGAGCAGAGGAACCCAGGGC	0.498000													11	23					0	0	0.000151284	0	0
SYN3	8224	broad.mit.edu	37	22	32929779	32929779	+	Splice_Site	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:32929779C>T	ENST00000358763.2	-	10	1337	c.1095_splice	c.e10+1	p.E365_splice	SYN3_ENST00000332840.5_Splice_Site_p.E365_splice	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	365	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CATCCCTCACCTCGATGATGT	0.602000													10	60					0	0	6.40141e-05	0	0
NOMO1	23420	broad.mit.edu	37	16	14970250	14970250	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:14970250G>T	ENST00000287667.7	+	21	2562	c.2391G>T	c.(2389-2391)ggG>ggT	p.G797G		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	797						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						AGATCCATGGGAAGGCAGGCC	0.522000													34	53					9.62906e-15	2.29518e-13	0.000228196	1	0
HNRNPA3	220988	broad.mit.edu	37	2	178080308	178080308	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:178080308T>A	ENST00000411529.2	+	2	99	c.48T>A	c.(46-48)ttT>ttA	p.F16L	HNRNPA3_ENST00000435711.1_Missense_Mutation_p.F38L|HNRNPA3_ENST00000392524.2_Missense_Mutation_p.F38L	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	38						catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GAAAACTGTTTATTGGTGGTC	0.393000													21	26					0	0	0.000295444	0	0
NUP210	23225	broad.mit.edu	37	3	13420462	13420462	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:13420462G>T	ENST00000254508.5	-	8	1077	c.995C>A	c.(994-996)gCt>gAt	p.A332D		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	332					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TAACCTAGAAGCACCTTGCAT	0.498000													39	51					1.48734e-19	4.35094e-18	0.000680045	1	0
DSG1	1828	broad.mit.edu	37	18	28923508	28923508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr18:28923508C>T	ENST00000257192.4	+	12	1995	c.1783C>T	c.(1783-1785)Cat>Tat	p.H595Y	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	595					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGAGCAATTCATTCATGGGC	0.473000													25	45					0	0	0.000878237	0	0
CFH	3075	broad.mit.edu	37	1	196709892	196709892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:196709892G>A	ENST00000367429.4	+	18	3166	c.2926G>A	c.(2926-2928)Gaa>Aaa	p.E976K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	976	Sushi 16.				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						ATGCTTAGGAGAAAAATGGTC	0.348000													34	128					0	0	0.000953801	0	0
SLC7A10	56301	broad.mit.edu	37	19	33703778	33703778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:33703778C>T	ENST00000253188.3	-	3	633	c.487G>A	c.(487-489)Gtg>Atg	p.V163M		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	163					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					ATGGACAGCACCCGGGAGGCT	0.632000													20	43					0	0	0.000175454	0	0
MYO6	4646	broad.mit.edu	37	6	76540194	76540194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:76540194C>T	ENST00000369981.3	+	5	602	c.323C>T	c.(322-324)tCt>tTt	p.S108F	MYO6_ENST00000369975.1_Missense_Mutation_p.S108F|MYO6_ENST00000369977.3_Missense_Mutation_p.S108F|MYO6_ENST00000369985.4_Missense_Mutation_p.S108F			Q9UM54	MYO6_HUMAN	myosin VI	108	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AAAATATATTCTTCAGAAGCA	0.308000													40	81					0	0	0.000270559	0	0
TTN	7273	broad.mit.edu	37	2	179436938	179436938	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:179436938C>A	ENST00000589042.1	-	326	74145	c.73921G>T	c.(73921-73923)Gag>Tag	p.E24641*	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E22073*|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E15576*|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E15701*|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E15768*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E23000*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23000	Ig-like 122.						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)			CCATCATGCTCTGGTTTCTCC	0.483000													14	23					4.7546e-09	7.99235e-08	0.000422831	1	0
SRCIN1	80725	broad.mit.edu	37	17	36709048	36709048	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:36709048G>T	ENST00000264659.7	-	12	2469	c.2245C>A	c.(2245-2247)Cac>Aac	p.H749N	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.H783N	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	621					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CGGTGGTTGTGGGACACGTCT	0.632000													9	56					2.80697e-09	4.77186e-08	6.40141e-05	1	0
FOXA3	3171	broad.mit.edu	37	19	46376171	46376171	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:46376171C>A	ENST00000302177.2	+	2	1105	c.908C>A	c.(907-909)cCt>cAt	p.P303H		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	303					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)		TTCAACCACCCTTTCTCCATC	0.597000													15	25					1.15088e-07	1.72249e-06	0.000422831	1	0
PCDHGB3	56102	broad.mit.edu	37	5	140751047	140751047	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:140751047G>T	ENST00000576222.1	+	1	1217	c.1086G>T	c.(1084-1086)ctG>ctT	p.L362L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCTGAGCTGGGGACTGCCG	0.403000													10	15					0.000673444	0.00760367	0.000673444	1	0
ZNF425	155054	broad.mit.edu	37	7	148801090	148801090	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:148801090G>T	ENST00000378061.2	-	4	2005	c.1873C>A	c.(1873-1875)Ctg>Atg	p.L625M		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	625					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGGCTTTTCAGGTTTCCCTTG	0.537000													21	90					1.87028e-06	2.56098e-05	0.000229342	1	0
EIF5	1983	broad.mit.edu	37	14	103807359	103807359	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr14:103807359G>T	ENST00000216554.3	+	12	1942	c.1266G>T	c.(1264-1266)aaG>aaT	p.K422N	EIF5_ENST00000392715.2_Missense_Mutation_p.K422N|EIF5_ENST00000558506.1_Missense_Mutation_p.K422N	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	422					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			CAGACAACAAGGATGACGACA	0.393000													38	64					1.23103e-26	4.33264e-25	0.000680045	1	0
NXF3	56000	broad.mit.edu	37	X	102337259	102337259	+	Translation_Start_Site	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chrX:102337259C>A	ENST00000425644.1	-	0	884				NXF3_ENST00000425463.2_Missense_Mutation_p.G183W|NXF3_ENST00000395065.3_Missense_Mutation_p.G272W			Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3							cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GGCTCTATCCCTTTCCACTTG	0.547000													47	13					2.0833e-19	6.0162e-18	0.000781405	1	0
NEFM	4741	broad.mit.edu	37	8	24771612	24771612	+	Silent	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:24771612G>A	ENST00000221166.5	+	1	1088	c.306G>A	c.(304-306)aaG>aaA	p.K102K	NEFM_ENST00000518131.1_Silent_p.K102K|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Silent_p.K102K			P07197	NFM_HUMAN	neurofilament, medium polypeptide	102	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		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)		CCAACGAGAAGGAGCAGCTGC	0.632000													6	13					0	0	0.000157383	0	0
TMEM66	51669	broad.mit.edu	37	8	29923607	29923607	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:29923607G>T	ENST00000256255.6	-	5	1148	c.891C>A	c.(889-891)ccC>ccA	p.P297P	TMEM66_ENST00000545648.1_Silent_p.P125P|TMEM66_ENST00000536273.1_Silent_p.P125P	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	297						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		CAGGGTAGGAGGGAGGATAGG	0.478000													12	39					4.36969e-10	7.90581e-09	0.000151284	1	0
TENM4	26011	broad.mit.edu	37	11	78369483	78369483	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:78369483C>A	ENST00000278550.7	-	34	8392	c.7930G>T	c.(7930-7932)Ggg>Tgg	p.G2644W		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		ACGTTGACCCCATTCTCCAGG	0.552000													9	15					4.68919e-08	7.28294e-07	0.000673444	1	0
NTN5	126147	broad.mit.edu	37	19	49167500	49167500	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:49167500G>T	ENST00000270235.4	-	4	965	c.870C>A	c.(868-870)acC>acA	p.T290T	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	290	Laminin EGF-like 3.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						ACTGCCCACTGGTCTGGTTGC	0.652000													4	10					1.23904e-05	0.000157236	0.000602214	1	0
TATDN1	83940	broad.mit.edu	37	8	125520735	125520735	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:125520735C>A	ENST00000276692.6	-	8	533	c.496G>T	c.(496-498)Gat>Tat	p.D166Y	TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000519548.1_Missense_Mutation_p.D119Y|TATDN1_ENST00000605953.1_Missense_Mutation_p.D166Y|TATDN1_ENST00000517678.1_Missense_Mutation_p.D112Y	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	166						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACACACCGATCTCTATTTCTT	0.308000													15	28					1.02788e-11	2.04894e-10	0.000566183	1	0
KCNT2	343450	broad.mit.edu	37	1	196295854	196295854	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:196295854C>A	ENST00000367433.5	-	19	2370	c.2269G>T	c.(2269-2271)Gat>Tat	p.D757Y	KCNT2_ENST00000367431.4_Missense_Mutation_p.D707Y|KCNT2_ENST00000498426.1_Intron|KCNT2_ENST00000294725.8_Missense_Mutation_p.D757Y|KCNT2_ENST00000451324.2_Missense_Mutation_p.D368Y			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	757						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TACGGGTTATCCAATAGCAGT	0.303000													43	30					4.18559e-23	1.39675e-21	0.000781405	1	0
KIF3B	9371	broad.mit.edu	37	20	30904662	30904662	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:30904662G>T	ENST00000375712.3	+	5	1900	c.1733G>T	c.(1732-1734)aGg>aTg	p.R578M	KIF3B_ENST00000418717.2_Missense_Mutation_p.R204M	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	578					anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGCTCACCAGGGAGCTGAAA	0.512000													7	51					0.000157383	0.00184159	0.000157383	1	0
NR4A1	3164	broad.mit.edu	37	12	52448610	52448610	+	Silent	SNP	T	T	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:52448610T>G	ENST00000545748.1	+	3	1655	c.660T>G	c.(658-660)acT>acG	p.T220T	NR4A1_ENST00000243050.1_Silent_p.T166T|NR4A1_ENST00000360284.3_Silent_p.T179T|NR4A1_ENST00000394824.2_Silent_p.T166T|NR4A1_ENST00000394825.1_Silent_p.T166T|NR4A1_ENST00000550082.1_Silent_p.T179T|NR4A1_ENST00000548232.1_Silent_p.T166T			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	166					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCAGCCAGACTTACGAAGGCC	0.692000													19	20					0	0	0.000132079	0	0
RYR3	6263	broad.mit.edu	37	15	34078059	34078059	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:34078059C>A	ENST00000389232.4	+	66	9535	c.9465C>A	c.(9463-9465)ccC>ccA	p.P3155P	RYR3_ENST00000415757.3_Silent_p.P3155P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3155					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCTGCCCCCCAGCACAGGGC	0.557000													43	73					1.41504e-22	4.48925e-21	0.000589545	1	0
LINC00696	100128378	broad.mit.edu	37	3	52097238	52097238	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:52097238G>T	ENST00000541313.1	-	1	329	c.330C>A	c.(328-330)ccC>ccA	p.P110P																								GAGACAGACTGGGAGGACAGG	0.577000													36	108					7.61001e-30	2.78724e-28	0.000191422	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77397761	77397761	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:77397761C>A	ENST00000282849.5	-	6	1412	c.994G>T	c.(994-996)Ggg>Tgg	p.G332W		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	332	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCAATAGTCCCATCTTTAAAT	0.373000													15	28					1.02788e-11	2.04894e-10	0.000566183	1	0
COL27A1	85301	broad.mit.edu	37	9	116931364	116931364	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:116931364C>A	ENST00000356083.3	+	3	1920	c.1529C>A	c.(1528-1530)cCa>cAa	p.P510Q		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	510	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ATGGTACCTCCAACTTCGGGC	0.582000													34	57					3.6622e-26	1.26909e-24	0.000692331	1	0
CCDC62	84660	broad.mit.edu	37	12	123285855	123285855	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:123285855G>T	ENST00000253079.6	+	9	1506	c.1162G>T	c.(1162-1164)Ggg>Tgg	p.G388W	CCDC62_ENST00000392441.4_Missense_Mutation_p.G388W|CCDC62_ENST00000392440.2_Missense_Mutation_p.G149W|CCDC62_ENST00000537566.1_Missense_Mutation_p.G149W	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	388						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TACTGTGTTTGGGGAGAAAAG	0.428000													13	24					3.27435e-08	5.15768e-07	0.000219431	1	0
NKX3-2	579	broad.mit.edu	37	4	13545655	13545655	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:13545655C>A	ENST00000382438.5	-	1	1019	c.384G>T	c.(382-384)ccG>ccT	p.P128P		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	128					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						GCTCACAGACCGGCTGGCCGA	0.731000													5	6					2.7689e-08	4.4391e-07	8.12818e-05	1	0
JUP	3728	broad.mit.edu	37	17	39919252	39919252	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:39919252G>T	ENST00000393931.3	-	8	1598	c.1480C>A	c.(1480-1482)Cag>Aag	p.Q494K	JUP_ENST00000393930.1_Missense_Mutation_p.Q494K|JUP_ENST00000310706.5_Missense_Mutation_p.Q494K|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	494					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		AGTGGCCACTGGTTGGGCTGG	0.587000													10	34					1.33987e-11	2.64742e-10	0.000673444	1	0
CD37	951	broad.mit.edu	37	19	49843549	49843549	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:49843549G>T	ENST00000323906.4	+	8	951	c.810G>T	c.(808-810)ctG>ctT	p.L270L	CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000426897.2_Silent_p.L202L	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	270						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		GCAGAAACCTGGACCACGTCT	0.622000													19	27					6.44725e-10	1.16179e-08	0.000295444	1	0
KDSR	2531	broad.mit.edu	37	18	61011643	61011643	+	Splice_Site	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr18:61011643C>A	ENST00000406396.3	-	7	1084	c.693_splice	c.e7+1	p.K231_splice	KDSR_ENST00000589592.1_5'UTR|KDSR_ENST00000326575.5_Splice_Site_p.K167_splice	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	231					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						GGATACTGACCTTTGTTCTGT	0.403000													19	18					4.35082e-09	7.34098e-08	0.000175454	1	0
GALNT15	117248	broad.mit.edu	37	3	16217075	16217075	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:16217075G>T	ENST00000339732.5	+	1	920	c.417G>T	c.(415-417)gaG>gaT	p.E139D	GALNT15_ENST00000470031.1_3'UTR|GALNT15_ENST00000437509.1_Missense_Mutation_p.E139D	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		GGGCTGATGAGGACGGGGAGG	0.642000													11	19					7.03913e-09	1.17016e-07	0.00010058	1	0
FCHSD2	9873	broad.mit.edu	37	11	72794770	72794770	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:72794770C>G	ENST00000409314.1	-	3	303	c.135G>C	c.(133-135)aaG>aaC	p.K45N	FCHSD2_ENST00000458644.2_5'UTR|FCHSD2_ENST00000409418.4_Missense_Mutation_p.K45N|FCHSD2_ENST00000311172.7_5'UTR|FCHSD2_ENST00000409853.1_5'UTR			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	45	FCH.						protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TAGCAGCCTTCTTCTGACTGA	0.348000													114	165					0	0	0.000781405	0	0
LATS2	26524	broad.mit.edu	37	13	21549192	21549192	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr13:21549192G>T	ENST00000382592.4	-	8	3489	c.3084C>A	c.(3082-3084)ccC>ccA	p.P1028P	LATS2_ENST00000542899.1_Silent_p.P1028P	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	1028	AGC-kinase C-terminal.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GCTTGTTATTGGGCGAGGTGA	0.527000													40	59					6.5261e-18	1.78182e-16	0.000374591	1	0
L3MBTL2	83746	broad.mit.edu	37	22	41622690	41622690	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:41622690G>T	ENST00000216237.5	+	13	1687	c.1529G>T	c.(1528-1530)tGg>tTg	p.W510L		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	510					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACTTTCAACTGGGAGAACTAC	0.552000													19	54					5.26018e-13	1.13383e-11	0.000229342	1	0
SLC2A1	6513	broad.mit.edu	37	1	43396303	43396303	+	Silent	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:43396303G>A	ENST00000426263.3	-	4	688	c.510C>T	c.(508-510)atC>atT	p.I170I	SLC2A1_ENST00000372500.3_Silent_p.I170I|SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_5'UTR	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	170					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TTACCTGGGCGATGAGGATGC	0.642000													13	5					0	0	0.000219431	0	0
NOL12	79159	broad.mit.edu	37	22	38086703	38086703	+	Splice_Site	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:38086703G>T	ENST00000359114.4	+	5	451		c.e5-1		NOL12_ENST00000493862.1_Splice_Site|RP1-37E16.12_ENST00000455236.1_RNA	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12							nucleolus	rRNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					TGCCTCTTTAGGGAGGGGCTG	0.622000													17	184					1.01871e-10	1.94462e-09	0.000132079	1	0
TUBB6	84617	broad.mit.edu	37	18	12325368	12325368	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr18:12325368G>T	ENST00000317702.5	+	4	814	c.580G>T	c.(580-582)Gag>Tag	p.E194*	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	194					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CCAGCTGGTGGAGAATACAGA	0.587000													24	53					1.04121e-07	1.58468e-06	0.000878237	1	0
PLIN3	10226	broad.mit.edu	37	19	4839210	4839210	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:4839210C>A	ENST00000221957.4	-	8	1475	c.1299G>T	c.(1297-1299)aaG>aaT	p.K433N	PLIN3_ENST00000592528.1_Missense_Mutation_p.K421N|PLIN3_ENST00000585479.1_Missense_Mutation_p.K432N	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	433					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CCCCCTACTTCTTCTCCTCCG	0.567000													19	27					1.96292e-10	3.65412e-09	0.000175454	1	0
PCDHA7	56141	broad.mit.edu	37	5	140214949	140214949	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:140214949C>A	ENST00000525929.1	+	1	981	c.981C>A	c.(979-981)ttC>ttA	p.F327L	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.F327L|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAAAGGCTTCCCACCCCTGG	0.478000													16	32					7.21436e-19	2.03129e-17	0.000132079	1	0
AKNA	80709	broad.mit.edu	37	9	117122051	117122051	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:117122051G>T	ENST00000307564.4	-	11	2476	c.2315C>A	c.(2314-2316)cCa>cAa	p.P772Q	AKNA_ENST00000374075.5_Missense_Mutation_p.P691Q|AKNA_ENST00000374088.3_Missense_Mutation_p.P772Q|AKNA_ENST00000223791.3_Missense_Mutation_p.P232Q|AKNA_ENST00000312033.3_Missense_Mutation_p.P772Q	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	772	PEST.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CATGGCTTCTGGGAGAGACTT	0.592000													6	9					5.9392e-07	8.44041e-06	3.59834e-05	1	0
KIF4A	24137	broad.mit.edu	37	X	69640028	69640028	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chrX:69640028G>T	ENST00000374403.3	+	31	3694	c.3612G>T	c.(3610-3612)aaG>aaT	p.K1204N		NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1204	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AAGAAAACAAGGCTCCAGGGA	0.527000													14	2					4.36969e-10	7.90581e-09	0.000151284	1	0
TSPAN12	23554	broad.mit.edu	37	7	120478967	120478967	+	Splice_Site	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:120478967C>A	ENST00000222747.3	-	4	757		c.e4-1		TSPAN12_ENST00000415871.1_Splice_Site	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12						angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					TTCCTCTACCCTGAAAGAAGA	0.348000													36	64					1.02151e-06	1.41597e-05	0.000491102	1	0
KRT6B	3854	broad.mit.edu	37	12	52845496	52845496	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:52845496C>A	ENST00000252252.3	-	1	414	c.367G>T	c.(367-369)Ggg>Tgg	p.G123W		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	123	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CCAGGGCCCCCAAAGCCACCA	0.622000													6	26					2.0095e-06	2.74327e-05	8.12818e-05	1	0
CASS4	57091	broad.mit.edu	37	20	55012539	55012539	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:55012539G>T	ENST00000371336.3	+	2	557	c.356G>T	c.(355-357)tGg>tTg	p.W119L	CASS4_ENST00000434344.1_Missense_Mutation_p.W119L|CASS4_ENST00000360314.3_Missense_Mutation_p.W119L	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	119					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ATGAGGAGTTGGGCGGAGGGG	0.592000													45	76					8.04919e-23	2.59011e-21	0.000781405	1	0
TULP3	7289	broad.mit.edu	37	12	3029954	3029954	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:3029954G>T	ENST00000448120.2	+	3	170	c.119G>T	c.(118-120)aGg>aTg	p.R40M	TULP3_ENST00000397132.2_Missense_Mutation_p.R40M	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	40					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AAGAGGCAAAGGAAAAAGCGC	0.507000													40	58					8.04919e-23	2.59011e-21	0.000781405	1	0
USP29	57663	broad.mit.edu	37	19	57642237	57642237	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:57642237G>T	ENST00000254181.4	+	4	2648	c.2194G>T	c.(2194-2196)Gaa>Taa	p.E732*	USP29_ENST00000598197.1_Nonsense_Mutation_p.E732*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	732					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGAATGGCTGAACAGCTCCA	0.448000													19	19					1.40151e-16	3.58739e-15	0.000175454	1	0
KIAA1549	57670	broad.mit.edu	37	7	138603046	138603046	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:138603046C>A	ENST00000440172.1	-	2	1374	c.1326G>T	c.(1324-1326)gtG>gtT	p.V442V	KIAA1549_ENST00000422774.1_Silent_p.V442V|KIAA1549_ENST00000242365.4_Silent_p.V392V	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	442						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCCCTGATCCCACGTCTTTCT	0.547000			O	BRAF	pilocytic astrocytoma								22	51					4.26978e-12	8.70378e-11	0.00047179	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19647594	19647594	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr21:19647594G>T	ENST00000284885.3	-	24	2857	c.2824C>A	c.(2824-2826)Caa>Aaa	p.Q942K		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	942	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATCTGCTGTTGGCATCTCTCA	0.398000													46	78					7.05121e-23	2.30186e-21	0.000509022	1	0
CR1	1378	broad.mit.edu	37	1	207737337	207737337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:207737337C>T	ENST00000367049.4	+	22	3715	c.3715C>T	c.(3715-3717)Cgc>Tgc	p.R1239C	CR1_ENST00000400960.2_Missense_Mutation_p.R789C|CR1_ENST00000367052.1_Intron|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.R789C|CR1_ENST00000367053.1_Missense_Mutation_p.R789C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	789	Sushi 19.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGCGTCTATGCGCTGCACACC	0.547000													17	78					0	0	0.000958276	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65208100	65208100	+	Splice_Site	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:65208100G>A	ENST00000380230.3	+	2	167		c.e2+1		ANKDD1A_ENST00000496660.1_Intron|ANKDD1A_ENST00000357698.3_Splice_Site|ANKDD1A_ENST00000491145.1_Splice_Site|ANKDD1A_ENST00000319580.8_Intron|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000395720.1_Splice_Site	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A						signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CAGAAACCACGTGCGTAATGA	0.552000													10	17					0	0	6.40141e-05	0	0
VWA1	64856	broad.mit.edu	37	1	1374540	1374540	+	Silent	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:1374540C>T	ENST00000476993.1	+	3	789	c.711C>T	c.(709-711)acC>acT	p.T237T	VWA1_ENST00000338660.5_3'UTR|VWA1_ENST00000404702.3_Silent_p.T25T	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	237	Fibronectin type-III 1.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCTGCTGACCGCAGACTCGG	0.701000													9	13					0	0	0.000673444	0	0
BCAR1	9564	broad.mit.edu	37	16	75268985	75268985	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:75268985G>T	ENST00000546196.1	-	5	3377	c.1725C>A	c.(1723-1725)ctC>ctA	p.L575L	BCAR1_ENST00000538440.2_Silent_p.L604L|BCAR1_ENST00000420641.3_Silent_p.L622L|BCAR1_ENST00000418647.3_Silent_p.L650L|BCAR1_ENST00000393420.6_Silent_p.L622L|BCAR1_ENST00000535626.2_Silent_p.L456L|BCAR1_ENST00000393422.2_Silent_p.L622L|BCAR1_ENST00000162330.5_Silent_p.L604L|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000542031.2_Silent_p.L602L			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	604	Ser-rich.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCCGTCTGAAGAGCAGTGAGG	0.687000													10	18					1.61879e-10	3.03861e-09	0.00010058	1	0
EDIL3	10085	broad.mit.edu	37	5	83402504	83402504	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:83402504C>A	ENST00000296591.5	-	6	1032	c.614G>T	c.(613-615)tGg>tTg	p.W205L	EDIL3_ENST00000380138.3_Missense_Mutation_p.W195L	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	205	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGCAGCTGTCCACGCATTTAT	0.413000													9	88					7.48243e-07	1.05669e-05	0.000442599	1	0
ABCC8	6833	broad.mit.edu	37	11	17419937	17419937	+	Silent	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:17419937G>A	ENST00000302539.4	-	30	3830	c.3705C>T	c.(3703-3705)aaC>aaT	p.N1235N	ABCC8_ENST00000389817.3_Silent_p.N1234N	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1234	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGGAAGCAATGTTGTTGGAGT	0.547000													88	154					0	0	0.000781405	0	0
KLRC2	3822	broad.mit.edu	37	12	10587105	10587105	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:10587105G>T	ENST00000381902.2	-	3	317	c.311C>A	c.(310-312)cCg>cAg	p.P104Q	KLRC2_ENST00000536833.2_Missense_Mutation_p.P45Q|NKG2-E_ENST00000539033.1_Missense_Mutation_p.P104Q|KLRC2_ENST00000381901.1_Intron	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	104					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TCTTGTATTCGGGGAAAAATT	0.279000													23	67					1.75199e-13	3.90727e-12	0.000184323	1	0
HDAC10	83933	broad.mit.edu	37	22	50686339	50686339	+	Silent	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:50686339C>T	ENST00000216271.5	-	13	1669	c.1317G>A	c.(1315-1317)gaG>gaA	p.E439E	HDAC10_ENST00000349505.4_Silent_p.E419E|HDAC10_ENST00000448072.1_Silent_p.E389E|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	439					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTCTGTCTCCTCCCTCAGGG	0.647000													19	9					0	0	0.000375601	0	0
NFKB1	4790	broad.mit.edu	37	4	103517372	103517372	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:103517372G>T	ENST00000226574.4	+	14	1845	c.1378G>T	c.(1378-1380)Ggg>Tgg	p.G460W	NFKB1_ENST00000600343.1_Missense_Mutation_p.G279W|NFKB1_ENST00000505458.1_Missense_Mutation_p.G459W|NFKB1_ENST00000394820.4_Missense_Mutation_p.G459W	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	459	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	AAACCTCTTTGGGAAAGTTAT	0.428000													24	64					2.89027e-11	5.58826e-10	0.000295444	1	0
TRAF3IP3	80342	broad.mit.edu	37	1	209933495	209933495	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:209933495C>A	ENST00000367024.1	+	3	627	c.111C>A	c.(109-111)ccC>ccA	p.P37P	TRAF3IP3_ENST00000367026.3_Silent_p.P37P|TRAF3IP3_ENST00000367025.3_Silent_p.P37P|TRAF3IP3_ENST00000010338.4_Silent_p.P37P|TRAF3IP3_ENST00000400959.3_Silent_p.P37P			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	37						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GCTGCCGTCCCAATGTGACCA	0.632000													11	34					3.07112e-06	4.06923e-05	6.40141e-05	1	0
VPRBP	9730	broad.mit.edu	37	3	51440667	51440667	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:51440667C>A	ENST00000335891.5	-	16	3037	c.3028G>T	c.(3028-3030)Gag>Tag	p.E1010*				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1459					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GCTAGCTCCTCATCAGAGGGA	0.532000													10	22					2.80697e-09	4.77186e-08	6.40141e-05	1	0
KERA	11081	broad.mit.edu	37	12	91449766	91449766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:91449766C>T	ENST00000266719.3	-	2	540	c.293G>A	c.(292-294)aGa>aAa	p.R98K		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	98					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						ATTTATCCATCTTAGCTGGGT	0.363000													30	47					0	0	0.000339439	0	0
OR52E6	390078	broad.mit.edu	37	11	5862851	5862851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:5862851C>T	ENST00000329322.5	-	1	276	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	OR52E6_ENST00000379946.2_Missense_Mutation_p.E97K|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGATATTTCCTTGATATTG	0.473000													53	67					0	0	0.000781405	0	0
GSAP	54103	broad.mit.edu	37	7	77010642	77010642	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:77010642G>T	ENST00000257626.7	-	8	634	c.556C>A	c.(556-558)Caa>Aaa	p.Q186K		NM_017439.3	NP_059135.2			gamma-secretase activating protein																		CCATCTTCTTGGGCGACATGG	0.299000													12	37					7.03913e-09	1.17016e-07	0.00010058	1	0
CACYBP	27101	broad.mit.edu	37	1	174979205	174979205	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:174979205C>T	ENST00000367681.2	+	6	1188	c.548C>T	c.(547-549)aCg>aTg	p.T183M	CACYBP_ENST00000405362.1_Missense_Mutation_p.T183M|CACYBP_ENST00000367679.2_Missense_Mutation_p.T226M	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	226	Interaction with S100A6 (By similarity).|Interaction with SKP1.|SGS.			T -> P (in Ref. 4; AAG23817).		beta-catenin destruction complex	protein homodimerization activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						AAAGGAGACACGGAATTTTGA	0.368000													10	60					0	0	6.40141e-05	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142480004	142480004	+	RNA	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:142480004C>A	ENST00000603901.1	+	0	136					NR_001296.3																						TTCTGGCTCCCACTTCTGCGG	0.557000													20	103					1.55795e-14	3.65549e-13	0.000229342	1	0
TCEA3	6920	broad.mit.edu	37	1	23720379	23720379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:23720379G>A	ENST00000450454.2	-	8	918	c.812C>T	c.(811-813)aCg>aTg	p.T271M		NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	271	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		CACCTCTGCCGTCATCTTGGC	0.637000													15	6					0	0	0.000219431	0	0
ITGB4	3691	broad.mit.edu	37	17	73745075	73745075	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:73745075G>T	ENST00000200181.3	+	27	3452	c.3265G>T	c.(3265-3267)Ggg>Tgg	p.G1089W	ITGB4_ENST00000449880.2_Missense_Mutation_p.G1089W|ITGB4_ENST00000579662.1_Missense_Mutation_p.G1089W|ITGB4_ENST00000339591.3_Missense_Mutation_p.G1089W|ITGB4_ENST00000450894.3_Missense_Mutation_p.G1089W	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1089					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCTAAGTTTGGGGCCCACCT	0.637000													11	33					4.3838e-07	6.30959e-06	0.000151284	1	0
NRAS	4893	broad.mit.edu	37	1	115256528	115256528	+	Missense_Mutation	SNP	T	T	G	rs121913255		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:115256528T>G	ENST00000369535.4	-	3	436	c.183A>C	c.(181-183)caA>caC	p.Q61H		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.Q61H(100)|p.Q61Q(3)|p.Q61L(3)|p.Q61R(2)|p.Q61K(1)|p.Q61_E62>HK(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)		TGTACTCTTCTTGTCCAGCTG	0.463000	Q61H(ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61H(RD_SOFT_TISSUE)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			87	13					0	0	0.000781405	0	0
GRID2	2895	broad.mit.edu	37	4	94032086	94032086	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:94032086C>A	ENST00000282020.4	+	4	975	c.717C>A	c.(715-717)gcC>gcA	p.A239A	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Silent_p.A144A	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	239					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)	CTGCTACAGCCAAATCCTTCA	0.393000													19	105					1.2644e-06	1.74728e-05	0.000175454	1	0
MOXD1	26002	broad.mit.edu	37	6	132649618	132649618	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:132649618G>T	ENST00000367963.3	-	5	897	c.779C>A	c.(778-780)cCc>cAc	p.P260H	MOXD1_ENST00000336749.3_Missense_Mutation_p.P192H	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	260					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GGGCATGTTGGGGTGATAGCA	0.502000													9	4					2.17888e-05	0.000274186	0.000442599	1	0
PEG3	5178	broad.mit.edu	37	19	57328938	57328938	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:57328938G>T	ENST00000326441.9	-	10	1235	c.872C>A	c.(871-873)aCt>aAt	p.T291N	PEG3_ENST00000593695.1_Missense_Mutation_p.T165N|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.T167N|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.T291N	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	291					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCAGGCATAGTTTTTAGACC	0.463000													42	64					1.51926e-22	4.78619e-21	0.000781405	1	0
CUX1	1523	broad.mit.edu	37	7	101870822	101870822	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:101870822C>A	ENST00000360264.3	+	21	3359	c.3339C>A	c.(3337-3339)ccC>ccA	p.P1113P	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Silent_p.P1000P|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Silent_p.P944P|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000549414.2_Silent_p.P1080P|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000550008.2_Silent_p.P1046P|CUX1_ENST00000292535.7_Silent_p.P1102P|CUX1_ENST00000292538.4_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1102					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ACTCCCAGCCCACAACCCCGC	0.647000													7	19					0.000157383	0.00184159	0.000157383	1	0
COL19A1	1310	broad.mit.edu	37	6	70647929	70647929	+	Splice_Site	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:70647929G>T	ENST00000322773.4	+	9	975		c.e9-1			NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1						cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTTTTGCTCAGGGAGAAGCAG	0.428000													22	37					3.6726e-16	9.24306e-15	0.000586117	1	0
JAKMIP2	9832	broad.mit.edu	37	5	147020327	147020327	+	Silent	SNP	T	T	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:147020327T>G	ENST00000265272.5	-	9	1808	c.1341A>C	c.(1339-1341)tcA>tcC	p.S447S	JAKMIP2_ENST00000507386.1_Silent_p.S447S|JAKMIP2_ENST00000333010.6_Silent_p.S405S	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	447						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCATGGATGATGTCTCTG	0.423000													17	29					0	0	0.000422831	0	0
LRRC52	440699	broad.mit.edu	37	1	165513559	165513559	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:165513559C>A	ENST00000294818.1	+	1	316	c.26C>A	c.(25-27)cCt>cAt	p.P9H	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	9						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GGCCCTGGCCCTGGGTGGTTA	0.542000													23	111					4.72057e-08	7.28294e-07	0.000586117	1	0
ANKRD17	26057	broad.mit.edu	37	4	73959836	73959836	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:73959836T>C	ENST00000358602.4	-	28	5403	c.5287A>G	c.(5287-5289)Aaa>Gaa	p.K1763E	ANKRD17_ENST00000330838.6_Missense_Mutation_p.K1512E|ANKRD17_ENST00000509867.2_Missense_Mutation_p.K1650E	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1763	KH.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCTTTCTGTTTATCAATATCT	0.358000													44	33					0	0	0.000589545	0	0
HELQ	113510	broad.mit.edu	37	4	84350799	84350799	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:84350799G>T	ENST00000295488.3	-	12	2558	c.2396C>A	c.(2395-2397)aCt>aAt	p.T799N	HELQ_ENST00000510985.1_Missense_Mutation_p.T732N	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	799							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TGATTCAACAGTTATTTCCCA	0.313000								Other identified genes with known or suspected DNA repair function					24	44					2.70639e-06	3.65039e-05	0.000295444	1	0
PARP8	79668	broad.mit.edu	37	5	50129836	50129836	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:50129836C>A	ENST00000514342.2	+	25	2388	c.1465C>A	c.(1465-1467)Cca>Aca	p.P489T	PARP8_ENST00000505697.2_Silent_p.S777S|PARP8_ENST00000281631.5_Silent_p.S777S|PARP8_ENST00000505554.1_Silent_p.S756S|PARP8_ENST00000503750.2_Silent_p.S735S|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Silent_p.S735S			Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	81						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GACAGCAATCCCAATTCCTGC	0.323000													16	52					4.96729e-08	7.63742e-07	0.000132079	1	0
ADRB2	154	broad.mit.edu	37	5	148207496	148207496	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:148207496G>T	ENST00000305988.4	+	1	1341	c.1102G>T	c.(1102-1104)Gtg>Ttg	p.V368L		NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	368					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TGGATATCACGTGGAACAGGA	0.517000													11	36					1.33987e-11	2.64742e-10	0.000673444	1	0
PML	5371	broad.mit.edu	37	15	74327753	74327753	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:74327753G>A	ENST00000268059.6	+	8	2047	c.1951G>A	c.(1951-1953)Gtc>Atc	p.V651I	PML_ENST00000354026.6_Missense_Mutation_p.V603I|PML_ENST00000569965.1_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000563500.1_3'UTR|PML_ENST00000436891.3_3'UTR|PML_ENST00000564428.1_Intron|PML_ENST00000569477.1_3'UTR|PML_ENST00000395135.3_Intron	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	48					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCGCCCTGCCGTCCACCGTGG	0.667000			T	"""RARA, PAX5"""	"""APL, ALL"""								25	36					0	0	0.000147802	0	0
OR51B5	282763	broad.mit.edu	37	11	5364502	5364502	+	Silent	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:5364502G>A	ENST00000300773.2	-	1	307	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTGATCCAGCCAGAGGACT	0.557000													19	11					0	0	0.00074312	0	0
KIAA0408	9729	broad.mit.edu	37	6	127775032	127775032	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:127775032C>A	ENST00000483725.3	-	2	431	c.95G>T	c.(94-96)tGg>tTg	p.W32L	SOGA3_ENST00000368268.2_3'UTR|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	32							protein binding	p.W32L(1)		endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TTGACTTTCCCATTCCTTTCT	0.373000													11	46					9.70103e-10	1.74116e-08	0.000673444	1	0
RNF146	81847	broad.mit.edu	37	6	127607950	127607950	+	Silent	SNP	T	T	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:127607950T>G	ENST00000368314.1	+	3	616	c.192T>G	c.(190-192)gcT>gcG	p.A64A	RNF146_ENST00000476956.1_3'UTR|RNF146_ENST00000356799.2_Silent_p.A63A|RNF146_ENST00000309649.3_Silent_p.A63A	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	64					positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		TAAAAGGAGCTTCATGGCTTG	0.463000													25	14					0	0	0.000720815	0	0
BTBD8	284697	broad.mit.edu	37	1	92612820	92612820	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:92612820C>A	ENST00000342818.3	+	8	1250	c.1014C>A	c.(1012-1014)tgC>tgA	p.C338*	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	338						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TTGCTGACTGCATGAAGTAAG	0.353000													25	49					2.79863e-10	5.14606e-09	0.000720815	1	0
USP19	10869	broad.mit.edu	37	3	49146439	49146439	+	Silent	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:49146439G>A	ENST00000434032.2	-	27	4423	c.4212C>T	c.(4210-4212)ctC>ctT	p.L1404L	USP19_ENST00000398898.2_Intron|USP19_ENST00000398888.2_Silent_p.L1303L|USP19_ENST00000417901.1_Intron|USP19_ENST00000398896.1_Intron|USP19_ENST00000453664.1_Intron|USP19_ENST00000398892.3_Silent_p.L1343L	NM_001199160.1	NP_001186089.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1303					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGTTGAGCACGAGGGCCACCA	0.647000													9	14					0	0	0.000673444	0	0
CORO1A	11151	broad.mit.edu	37	16	30196587	30196587	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:30196587C>A	ENST00000219150.5	+	2	362	c.57C>A	c.(55-57)gcC>gcA	p.A19A	CORO1A_ENST00000570045.1_Silent_p.A19A|CORO1A_ENST00000566619.1_3'UTR|CORO1A_ENST00000565497.1_Silent_p.A19A	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	19					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GACAGCCGGCCAAGGCCGACC	0.582000													9	36					1.12685e-05	0.000145457	0.000274275	1	0
KIAA1683	80726	broad.mit.edu	37	19	18376007	18376007	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:18376007G>T	ENST00000392413.3	-	3	2558	c.2343C>A	c.(2341-2343)tcC>tcA	p.S781S	KIAA1683_ENST00000600328.2_Silent_p.S781S|KIAA1683_ENST00000600359.2_Silent_p.S735S	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	781						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGGCGTGGTTGGACACCTTGG	0.657000													42	83					1.38658e-30	5.20544e-29	0.000781405	1	0
IL37	27178	broad.mit.edu	37	2	113675292	113675292	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:113675292G>T	ENST00000263326.3	+	4	388	c.346G>T	c.(346-348)Ggg>Tgg	p.G116W	IL37_ENST00000311328.2_Missense_Mutation_p.G90W|IL37_ENST00000353225.3_Missense_Mutation_p.G76W|IL37_ENST00000349806.3_Missense_Mutation_p.G55W|IL37_ENST00000352179.3_Missense_Mutation_p.G95W	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	116					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						GGTCTCTAAAGGGGAGTTTTG	0.483000													36	44					2.05212e-20	6.24648e-19	0.000191422	1	0
CYP27C1	339761	broad.mit.edu	37	2	127950714	127950714	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:127950714C>A	ENST00000335247.7	-	7	1088	c.958G>T	c.(958-960)Ggg>Tgg	p.G320W	CYP27C1_ENST00000409327.1_Missense_Mutation_p.G320W	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	320						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.G320R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		ATTCTCCGCCCTATGCAGCTG	0.557000													12	19					9.16793e-09	1.50735e-07	0.000566183	1	0
LAIR1	3903	broad.mit.edu	37	19	54872569	54872569	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:54872569G>T	ENST00000391743.3	-	2	544	c.264C>A	c.(262-264)ccC>ccA	p.P88P	LAIR1_ENST00000313038.6_Silent_p.P99P|LAIR1_ENST00000463489.1_Intron|LAIR1_ENST00000474878.1_Silent_p.P105P|LAIR1_ENST00000391742.2_Silent_p.P106P|LAIR1_ENST00000434277.2_Silent_p.P105P|LAIR1_ENST00000348231.4_Silent_p.P106P			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	106	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		ACCATTTAGGGGGCTTATAAT	0.542000													38	57					2.75727e-19	7.86172e-18	0.000953801	1	0
NLRP3	114548	broad.mit.edu	37	1	247587301	247587301	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:247587301G>T	ENST00000366497.2	+	4	1336	c.556G>T	c.(556-558)Gag>Tag	p.E186*	NLRP3_ENST00000336119.3_Nonsense_Mutation_p.E186*|NLRP3_ENST00000366496.2_Nonsense_Mutation_p.E186*|NLRP3_ENST00000348069.2_Nonsense_Mutation_p.E186*|NLRP3_ENST00000391827.2_Nonsense_Mutation_p.E186*|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Nonsense_Mutation_p.E186*	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	186					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAGGGAGCAGGAGCTTCTGGC	0.567000													18	15					8.34094e-07	1.15975e-05	0.000132079	1	0
FGFBP2	83888	broad.mit.edu	37	4	15964237	15964237	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:15964237C>A	ENST00000259989.6	-	1	622	c.516G>T	c.(514-516)ctG>ctT	p.L172L	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	172						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						TGGCTTTTCCCAGCTCTTCCA	0.587000													36	127					5.2432e-18	1.44028e-16	0.000781405	1	0
TMEM198	130612	broad.mit.edu	37	2	220412545	220412545	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:220412545C>A	ENST00000344458.2	+	4	1069	c.484C>A	c.(484-486)Ctg>Atg	p.L162M	TMEM198_ENST00000373883.3_Missense_Mutation_p.L162M			Q66K66	TM198_HUMAN	transmembrane protein 198	162	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCTCTGTGCCCTGCTCACTCT	0.706000													7	19					0.000157383	0.00184159	0.000157383	1	0
IGLV5-37	28783	broad.mit.edu	37	22	22782060	22782060	+	RNA	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:22782060C>A	ENST00000390300.2	+	0	63																											TTCCCTCTCCCAGCCTGTGCT	0.542000													19	49					2.37509e-13	5.24499e-12	0.000175454	1	0
DNM3	26052	broad.mit.edu	37	1	172357867	172357867	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:172357867C>A	ENST00000358155.4	+	20	2616	c.2440C>A	c.(2440-2442)Cct>Act	p.P814T	DNM3_ENST00000355305.5_Missense_Mutation_p.P820T|DNM3_ENST00000367731.1_Missense_Mutation_p.P810T	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	820					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCCATTACCTCCTTTCCCCAG	0.642000													8	20					0.000157383	0.00184159	0.000157383	1	0
ZNF577	84765	broad.mit.edu	37	19	52381728	52381728	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:52381728C>A	ENST00000420592.1	-	4	1434	c.101G>T	c.(100-102)aGg>aTg	p.R34M	ZNF577_ENST00000412216.1_Missense_Mutation_p.R34M|ZNF577_ENST00000485702.1_5'UTR|ZNF577_ENST00000451628.2_Missense_Mutation_p.R34M|ZNF577_ENST00000301399.5_Missense_Mutation_p.R34M			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CCACTCCTCCCTGGTGAAGCC	0.438000													12	57					0.000151284	0.00180301	0.000151284	1	0
SS18L1	26039	broad.mit.edu	37	20	60737980	60737980	+	Silent	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:60737980C>T	ENST00000331758.3	+	5	575	c.549C>T	c.(547-549)tcC>tcT	p.S183S	SS18L1_ENST00000491916.1_3'UTR|SS18L1_ENST00000421564.1_Silent_p.S183S|SS18L1_ENST00000370848.4_Silent_p.S186S	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	183	Methionine-rich intra-molecular domain (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			ACATGCAGTCCAACCCAGGTA	0.652000			T	SSX1	synovial sarcoma								13	12					0	0	0.000151284	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													4	26					0	0	0.00024832	0	0
EGFR	1956	broad.mit.edu	37	7	55272965	55272965	+	Silent	SNP	C	C	A	rs143770509		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:55272965C>A	ENST00000275493.2	+	28	3465	c.3288C>A	c.(3286-3288)tcC>tcA	p.S1096S	EGFR_ENST00000454757.2_Silent_p.S1043S|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1096					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TAAACCAGTCCGTTCCCAAAA	0.527000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			9	17					2.74318e-10	5.06476e-09	0.000442599	1	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													5	99					0	0	0.000602214	0	0
ZNF492	57615	broad.mit.edu	37	19	22847622	22847622	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:22847622A>C	ENST00000456783.2	+	4	1395	c.1151A>C	c.(1150-1152)aAg>aCg	p.K384T		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACTACACATAAGAGAATTCAT	0.378000													5	9					0	0	0.000673444	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88916409	88916409	+	Missense_Mutation	SNP	C	C	A	rs76212915		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:88916409C>A	ENST00000277141.6	-	27	4493	c.2069G>T	c.(2068-2070)aGg>aTg	p.R690M	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.R1363M|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.R301M|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R1165M|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.R1401M			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1401					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TGACACCTCCCTTTCTGTGTA	0.498000													32	45					5.77227e-19	1.63548e-17	0.000227799	1	0
NOX5	79400	broad.mit.edu	37	15	69339775	69339775	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:69339775G>T	ENST00000260364.5	+	13	1962	c.1661G>T	c.(1660-1662)gGg>gTg	p.G554V	NOX5_ENST00000388866.3_Missense_Mutation_p.G572V|NOX5_ENST00000455873.3_Missense_Mutation_p.G537V|NOX5_ENST00000448182.3_Missense_Mutation_p.G526V|NOX5_ENST00000530406.2_Missense_Mutation_p.G544V|NOX5_ENST00000525163.1_3'UTR			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	572	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GGGCCTTATGGGACCCCCACC	0.597000													11	43					1.08611e-07	1.63643e-06	6.40141e-05	1	0
NPAS4	266743	broad.mit.edu	37	11	66189596	66189596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:66189596C>T	ENST00000311034.2	+	2	357	c.181C>T	c.(181-183)Cct>Tct	p.P61S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	61					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TACAGGCACTCCTCTGGCGGG	0.567000													11	21					0	0	0.000219431	0	0
CACNA1E	777	broad.mit.edu	37	1	181708321	181708321	+	Silent	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:181708321C>T	ENST00000526775.1	+	24	3759	c.3594C>T	c.(3592-3594)taC>taT	p.Y1198Y	CACNA1E_ENST00000367570.1_Silent_p.Y1217Y|CACNA1E_ENST00000358338.5_Silent_p.Y1149Y|CACNA1E_ENST00000367573.2_Silent_p.Y1217Y|CACNA1E_ENST00000360108.3_Silent_p.Y1198Y|CACNA1E_ENST00000357570.5_Silent_p.Y1168Y|CACNA1E_ENST00000367567.4_Silent_p.Y824Y	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1217					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						ATGGGTCCTACTTCCGAGACT	0.502000													73	206					0	0	0.000781405	0	0
HTR1B	3351	broad.mit.edu	37	6	78172118	78172118	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:78172118G>T	ENST00000369947.2	-	1	1372	c.1003C>A	c.(1003-1005)Cta>Ata	p.L335I		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	335					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GGCATCACTAGGGAGATGATG	0.498000													13	56					3.27435e-08	5.15768e-07	0.000219431	1	0
CRTC1	23373	broad.mit.edu	37	19	18885745	18885745	+	Silent	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:18885745G>A	ENST00000338797.6	+	13	1534	c.1509G>A	c.(1507-1509)gcG>gcA	p.A503A	CRTC1_ENST00000321949.8_Silent_p.A487A|CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000594658.1_Silent_p.A446A	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	487					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TTGGGGACGCGTACTATGAGC	0.672000													9	41					0	0	0.000151284	0	0
RICTOR	253260	broad.mit.edu	37	5	38963125	38963125	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:38963125C>G	ENST00000357387.3	-	17	1449	c.1419G>C	c.(1417-1419)ttG>ttC	p.L473F	RICTOR_ENST00000296782.5_Missense_Mutation_p.L473F	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	473					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTAAACAGTTCAAGGCTGCAC	0.353000													44	108					0	0	0.000437636	0	0
KCNH2	3757	broad.mit.edu	37	7	150647239	150647239	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:150647239C>A	ENST00000430723.3	-	9	2427	c.2415G>T	c.(2413-2415)gcG>gcT	p.A805A	KCNH2_ENST00000262186.5_Intron|KCNH2_ENST00000392968.2_Intron|KCNH2_ENST00000330883.4_Intron	NM_172056.2	NP_742053.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	0			F -> C (in LQT2).|F -> S (in LQT2).		blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GTCCAGTGCCCGCCCCCCACC	0.647000													14	17					1.99824e-07	2.97097e-06	0.000566183	1	0
PEG3	5178	broad.mit.edu	37	19	57328597	57328597	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:57328597G>T	ENST00000326441.9	-	10	1576	c.1213C>A	c.(1213-1215)Cac>Aac	p.H405N	PEG3_ENST00000593695.1_Missense_Mutation_p.H279N|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.H281N|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.H405N	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	405					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTTGATCGTGAATCGAGCCC	0.488000													35	71					1.836e-18	5.10567e-17	0.000692331	1	0
CACNA1C	775	broad.mit.edu	37	12	2797804	2797804	+	Silent	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:2797804C>T	ENST00000399655.1	+	46	6241	c.5976C>T	c.(5974-5976)tgC>tgT	p.C1992C	CACNA1C_ENST00000406454.3_Silent_p.C2063C|CACNA1C_ENST00000347598.4_Silent_p.C2040C|CACNA1C_ENST00000344100.3_Silent_p.C2033C|CACNA1C_ENST00000399641.1_Silent_p.C1992C|CACNA1C_ENST00000399595.1_Silent_p.C2000C|CACNA1C_ENST00000399603.1_Silent_p.C1992C|CACNA1C_ENST00000399637.1_Silent_p.C2011C|CACNA1C_ENST00000402845.3_Silent_p.C2011C|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399621.1_Silent_p.C2011C|CACNA1C_ENST00000399649.1_Silent_p.C1998C|CACNA1C_ENST00000399591.1_Silent_p.C2000C|CACNA1C_ENST00000399617.1_Silent_p.C2027C|CACNA1C_ENST00000335762.5_Silent_p.C2017C|CACNA1C_ENST00000399644.1_Silent_p.C1992C|CACNA1C_ENST00000399638.1_Silent_p.C2020C|CACNA1C_ENST00000399601.1_Silent_p.C1992C|CACNA1C_ENST00000327702.7_Silent_p.C2027C|CACNA1C_ENST00000399634.1_Silent_p.C2063C|CACNA1C_ENST00000399629.1_Silent_p.C2009C|CACNA1C_ENST00000399597.1_Silent_p.C1992C|CACNA1C_ENST00000399606.1_Silent_p.C2012C	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2075					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCATCCACTGCGGCTCCTGGG	0.721000													13	27					0	0	0.000219431	0	0
NDST3	9348	broad.mit.edu	37	4	119161824	119161824	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:119161824G>T	ENST00000296499.5	+	11	2667	c.2264G>T	c.(2263-2265)tGg>tTg	p.W755L		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	755	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATCGAGAGATGGCTTGTTTAT	0.463000													15	23					3.52763e-06	4.6604e-05	0.000566183	1	0
MROH5	389690	broad.mit.edu	37	8	142458048	142458048	+	RNA	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:142458048G>T	ENST00000430863.1	-	0	2858					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CCTGCTGCTTGGGCTAGGGCT	0.652000													5	5					1.23904e-05	0.000157236	0.000602214	1	0
CSPG4	1464	broad.mit.edu	37	15	75981198	75981198	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:75981198C>A	ENST00000308508.5	-	3	2300	c.2208G>T	c.(2206-2208)gtG>gtT	p.V736V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	736	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGCCCTGCTCCACATCCCGCT	0.667000													14	22					2.32078e-09	4.0058e-08	0.000308642	1	0
HDAC10	83933	broad.mit.edu	37	22	50686860	50686860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:50686860C>T	ENST00000216271.5	-	11	1300	c.948G>A	c.(946-948)atG>atA	p.M316I	HDAC10_ENST00000349505.4_Missense_Mutation_p.M296I|HDAC10_ENST00000448072.1_Missense_Mutation_p.M266I|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	316	Histone deacetylase.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCTGTACTGTCATGCACACTG	0.657000													27	10					0	0	0.000409698	0	0
HERC2	8924	broad.mit.edu	37	15	28538062	28538062	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:28538062C>A	ENST00000261609.7	-	4	402	c.294G>T	c.(292-294)ctG>ctT	p.L98L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	98					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCCAGCTGTCCAGAATTGACT	0.418000													15	28					1.45105e-14	3.42251e-13	0.00074312	1	0
MYCL	4610	broad.mit.edu	37	1	40363545	40363545	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:40363545G>T	ENST00000397332.2	-	3	808	c.684C>A	c.(682-684)ccC>ccA	p.P228P	MYCL_ENST00000372816.2_Silent_p.P198P|RP1-118J21.5_ENST00000418255.1_RNA	NM_001033081.2|NM_001033082.2	NP_001028253.1|NP_001028254.2			v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog																		GCTTCATGCAGGGATCCAGGG	0.522000													30	44					5.60225e-13	1.20182e-11	0.000279167	1	0
IGHE	3497	broad.mit.edu	37	14	106066360	106066360	+	RNA	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr14:106066360C>A	ENST00000412518.1	-	0	16				IGHE_ENST00000576077.1_RNA|IGHE_ENST00000577108.1_RNA																							CTCCCCACTGCACAGCTGGAT	0.602000													14	28					7.93312e-07	1.11336e-05	0.000219431	1	0
UBAC2	337867	broad.mit.edu	37	13	99896180	99896180	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr13:99896180G>T	ENST00000403766.3	+	3	389	c.254G>T	c.(253-255)aGa>aTa	p.R85I	UBAC2_ENST00000376440.2_Intron	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	85						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATATTTGAAAGAAGATATGGA	0.274000													3	1					6.4e-05	0.000783651	6.4e-05	1	0
INTS8	55656	broad.mit.edu	37	8	95835787	95835787	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:95835787C>A	ENST00000523731.1	+	1	261	c.128C>A	c.(127-129)cCg>cAg	p.P43Q	INTS8_ENST00000447247.1_Missense_Mutation_p.P43Q	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	43					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AAGCCCTGCCCGGGTGAGCGC	0.711000													16	21					6.33239e-15	1.53373e-13	0.000175454	1	0
TRAF3IP3	80342	broad.mit.edu	37	1	209953951	209953951	+	Splice_Site	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:209953951G>T	ENST00000367024.1	+	15	1965	c.1449_splice	c.e15+1	p.E483_splice	TRAF3IP3_ENST00000367026.3_Splice_Site_p.E463_splice|TRAF3IP3_ENST00000367025.3_Splice_Site_p.E483_splice|TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000010338.4_Splice_Site_p.E463_splice			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	483						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AGGAAAAGGAGGTGAGAGGGT	0.493000													10	56					4.68919e-08	7.28294e-07	0.000673444	1	0
ISX	91464	broad.mit.edu	37	22	35481452	35481452	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:35481452C>A	ENST00000308700.6	+	4	1456	c.504C>A	c.(502-504)ccC>ccA	p.P168P	ISX_ENST00000404699.2_Silent_p.P168P	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	168						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GACAGGGGCCCACGTGGACAT	0.597000													20	163					9.62636e-23	3.07566e-21	0.000295444	1	0
CYP4F12	66002	broad.mit.edu	37	19	15784502	15784502	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:15784502C>A	ENST00000550308.1	+	2	543	c.163C>A	c.(163-165)Cca>Aca	p.P55T	CYP4F12_ENST00000324632.9_Missense_Mutation_p.P55T	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)					CCCACAGCCCCCAAAACGGAA	0.587000													12	57					4.36969e-10	7.90581e-09	0.000151284	1	0
PLA2G4D	283748	broad.mit.edu	37	15	42362987	42362987	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:42362987G>T	ENST00000290472.3	-	18	2065	c.1971C>A	c.(1969-1971)ccC>ccA	p.P657P		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	657	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GGAACATGGAGGGAGAGCTGG	0.642000													6	6					8.12818e-05	0.000981702	8.12818e-05	1	0
CHST9	83539	broad.mit.edu	37	18	24496499	24496499	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr18:24496499C>A	ENST00000284224.8	-	6	1333	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N	AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.K352N|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	352					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GTTTGCTGACCTTTTCCCAGT	0.398000													39	62					2.47872e-24	8.39598e-23	0.000509022	1	0
KRT75	9119	broad.mit.edu	37	12	52827670	52827670	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:52827670G>T	ENST00000252245.5	-	1	639	c.419C>A	c.(418-420)cCc>cAc	p.P140H		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	140	Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CTGGATGGTGGGGTCGATTTG	0.597000													18	33					1.01871e-10	1.94462e-09	0.000132079	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90161731	90161731	+	RNA	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:90161731G>T	ENST00000564451.1	+	0	1084				TUBB8P7_ENST00000567960.1_RNA																							AGTAAGATCCGGGAGGAGTAC	0.577000													8	23					0.000274275	0.00316013	0.000274275	1	0
MYH11	4629	broad.mit.edu	37	16	15841937	15841937	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:15841937G>T	ENST00000338282.6	-	17	2253	c.2147C>A	c.(2146-2148)cCc>cAc	p.P716H	MYH11_ENST00000452625.2_Missense_Mutation_p.P723H|MYH11_ENST00000396324.3_Missense_Mutation_p.P723H|MYH11_ENST00000300036.5_Missense_Mutation_p.P716H|MYH11_ENST00000576790.1_Missense_Mutation_p.P716H	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	716	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GATCCGGTTGGGGAAGCCCTG	0.632000			T	CBFB	AML								9	26					3.86212e-05	0.00047799	0.000673444	1	0
SCAPER	49855	broad.mit.edu	37	15	76668513	76668513	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:76668513G>T	ENST00000538941.2	-	29	4046	c.3107C>A	c.(3106-3108)cCa>cAa	p.P1036Q	SCAPER_ENST00000324767.7_Missense_Mutation_p.P1282Q|SCAPER_ENST00000563290.1_Missense_Mutation_p.P1282Q	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1281						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CTGGTTATCTGGGTGGTTGAC	0.557000													13	36					4.93089e-13	1.07312e-11	0.000219431	1	0
DNAH2	146754	broad.mit.edu	37	17	7722560	7722560	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:7722560C>A	ENST00000572933.1	+	72	12309	c.10849C>A	c.(10849-10851)Ctg>Atg	p.L3617M	DNAH2_ENST00000389173.2_Missense_Mutation_p.L3617M			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3617					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)				GGCATCAATCCTGTTCTTCGT	0.582000													27	9					8.88839e-20	2.63436e-18	0.000339439	1	0
MED25	81857	broad.mit.edu	37	19	50333347	50333347	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:50333347G>T	ENST00000312865.6	+	7	744	c.691G>T	c.(691-693)Ggg>Tgg	p.G231W	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	231	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		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;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCTCTCAGTTGGGGGTGGCTC	0.622000													34	65					5.71845e-15	1.39252e-13	0.000191422	1	0
OR4C16	219428	broad.mit.edu	37	11	55340324	55340324	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:55340324C>A	ENST00000314634.3	+	1	721	c.721C>A	c.(721-723)Cac>Aac	p.H241N		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATGTGTCTCCCACATCATTGT	0.393000													24	24					2.98393e-07	4.36448e-06	0.000375601	1	0
HDAC10	83933	broad.mit.edu	37	22	50686181	50686181	+	Silent	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:50686181C>T	ENST00000216271.5	-	14	1714	c.1362G>A	c.(1360-1362)gaG>gaA	p.E454E	HDAC10_ENST00000349505.4_Silent_p.E434E|HDAC10_ENST00000448072.1_Silent_p.E404E|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	454					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGAGGGCCTCCTCCCGGGCCA	0.622000													6	24					0	0	0.000274275	0	0
COL11A2	1302	broad.mit.edu	37	6	33145910	33145910	+	Splice_Site	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:33145910G>T	ENST00000341947.2	-	21	2098	c.1872_splice	c.e21+1	p.P624_splice	COL11A2_ENST00000357486.1_Splice_Site_p.P603_splice|COL11A2_ENST00000374714.1_Splice_Site_p.P598_splice|COL11A2_ENST00000361917.1_Splice_Site_p.P517_splice|COL11A2_ENST00000374712.1_Splice_Site_p.P543_splice|COL11A2_ENST00000374713.1_Splice_Site_p.P577_splice|COL11A2_ENST00000374708.4_Splice_Site_p.P538_splice|COL11A2_ENST00000395197.1_Splice_Site_p.P564_splice	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	624	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GTCACTTACAGGGGGTCCAGG	0.577000													28	22					1.08312e-15	2.69583e-14	0.000279167	1	0
IGLV3-1	28809	broad.mit.edu	37	22	23223476	23223476	+	RNA	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:23223476C>T	ENST00000390319.2	+	0	298																											GATTCTCTGGCTCCAACTCTG	0.562000													8	46					0	0	0.000157383	0	0
ROS1	6098	broad.mit.edu	37	6	117609814	117609814	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:117609814C>A	ENST00000368508.3	-	43	7083	c.6885G>T	c.(6883-6885)caG>caT	p.Q2295H	ROS1_ENST00000368507.3_Missense_Mutation_p.Q2289H	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2295					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATTCAGATTCCTGGGAGCCTA	0.453000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								33	15					4.92203e-23	1.63042e-21	0.000228196	1	0
PCDH1	5097	broad.mit.edu	37	5	141236886	141236886	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:141236886G>T	ENST00000287008.3	-	4	3397	c.3250C>A	c.(3250-3252)Ctg>Atg	p.L1084M	PCDH1_ENST00000503492.1_Missense_Mutation_p.L352M	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCCTCAGGCAGGGCCAGGGGA	0.627000													10	22					1.08611e-07	1.63643e-06	6.40141e-05	1	0
UBAP2L	9898	broad.mit.edu	37	1	154227725	154227725	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:154227725C>A	ENST00000428931.1	+	17	2174	c.2007C>A	c.(2005-2007)acC>acA	p.T669T	UBAP2L_ENST00000343815.6_Silent_p.T669T|UBAP2L_ENST00000361546.2_Silent_p.T669T|UBAP2L_ENST00000271877.7_Silent_p.T680T	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	669					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGACGACAACCAATCAGCATT	0.502000													114	50					2.51308e-46	1.02922e-44	0.000781405	1	0
GRIN2A	2903	broad.mit.edu	37	16	9858428	9858428	+	Silent	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:9858428G>A	ENST00000396573.2	-	14	3282	c.2973C>T	c.(2971-2973)tcC>tcT	p.S991S	GRIN2A_ENST00000396575.2_Silent_p.S991S|GRIN2A_ENST00000562109.1_Silent_p.S991S|GRIN2A_ENST00000330684.3_Silent_p.S991S|GRIN2A_ENST00000404927.2_Silent_p.S991S|GRIN2A_ENST00000535259.1_Silent_p.S834S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	991					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGTTAGGGTTGGACTCATTGA	0.493000													11	47					0	0	0.000151284	0	0
CGA	1081	broad.mit.edu	37	6	87796111	87796111	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:87796111G>T	ENST00000369582.2	-	3	230	c.130C>A	c.(130-132)Cag>Aag	p.Q44K		NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	44					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		GCACCCGGCTGGGAGAAGAAT	0.448000													28	56					1.39806e-14	3.31486e-13	0.000227799	1	0
DNTT	1791	broad.mit.edu	37	10	98092351	98092351	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr10:98092351C>A	ENST00000419175.1	+	9	1527	c.1357C>A	c.(1357-1359)Cgg>Agg	p.R453R	DNTT_ENST00000371174.2_Silent_p.R453R	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	453	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GACTGGCTCCCGGGTAAGTGC	0.582000													28	65					3.90053e-15	9.54993e-14	0.000409698	1	0
KIAA1958	158405	broad.mit.edu	37	9	115336503	115336503	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:115336503G>T	ENST00000337530.6	+	2	439	c.143G>T	c.(142-144)tGg>tTg	p.W48L	KIAA1958_ENST00000536272.1_Missense_Mutation_p.W48L|KIAA1958_ENST00000374244.3_Missense_Mutation_p.W48L	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	48										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						ACAGCAATGTGGGGCTGTAGT	0.507000													13	18					1.49906e-05	0.000189698	0.000219431	1	0
ACTR3C	653857	broad.mit.edu	37	7	149981869	149981869	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:149981869G>T	ENST00000539352.1	-	6	788	c.537C>A	c.(535-537)ccC>ccA	p.P179P	ACTR3C_ENST00000252071.4_Silent_p.P179P	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN	ARP3 actin-related protein 3 homolog C (yeast)	179					regulation of actin filament polymerization	cytoskeleton	actin binding|ATP binding										GCACATCGATGGGGCAGTTCT	0.403000													15	25					5.3912e-06	7.06028e-05	0.00074312	1	0
MUC4	4585	broad.mit.edu	37	3	195492275	195492275	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:195492275G>T	ENST00000463781.3	-	9	14123	c.13664C>A	c.(13663-13665)cCc>cAc	p.P4555H	MUC4_ENST00000346145.4_Missense_Mutation_p.P319H|MUC4_ENST00000475231.1_Missense_Mutation_p.P4503H|MUC4_ENST00000349607.4_Missense_Mutation_p.P268H	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1312					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACGGTAGTTGGGCCTTTCTTC	0.652000													10	35					1.76689e-08	2.84281e-07	0.000442599	1	0
PTPRT	11122	broad.mit.edu	37	20	41385186	41385186	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:41385186G>T	ENST00000373198.3	-	6	1010	c.775C>A	c.(775-777)Cag>Aag	p.Q259K	PTPRT_ENST00000356100.2_Missense_Mutation_p.Q259K|PTPRT_ENST00000373187.1_Missense_Mutation_p.Q259K|PTPRT_ENST00000373190.1_Missense_Mutation_p.Q259K|PTPRT_ENST00000373193.3_Missense_Mutation_p.Q259K|PTPRT_ENST00000373184.1_Missense_Mutation_p.Q259K|PTPRT_ENST00000373201.1_Missense_Mutation_p.Q259K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	259	Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACGCTCCGCTGGGCAGTGTCT	0.602000													20	17					7.41877e-09	1.22873e-07	0.000229342	1	0
SHC3	53358	broad.mit.edu	37	9	91628367	91628367	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:91628367G>T	ENST00000375835.4	-	12	2086	c.1780C>A	c.(1780-1782)Cag>Aag	p.Q594K		NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	594				KQ -> NE (in Ref. 2).	central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CCAGGTCACTGCTTCCTCTCC	0.602000													21	28					5.26018e-13	1.13383e-11	0.000229342	1	0
HDAC3	8841	broad.mit.edu	37	5	141016144	141016144	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:141016144G>T	ENST00000305264.3	-	2	188	c.109C>A	c.(109-111)Ctg>Atg	p.L37M		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	37	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CCGTAATGCAGGACCAGGCTA	0.622000													10	16					3.07112e-06	4.06923e-05	6.40141e-05	1	0
GGT7	2686	broad.mit.edu	37	20	33442705	33442705	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:33442705G>T	ENST00000336431.5	-	9	1168	c.1124C>A	c.(1123-1125)cCa>cAa	p.P375Q		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	375					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GTGCGGAGGTGGGGGACTAAG	0.582000													13	21					4.3838e-07	6.30959e-06	0.000151284	1	0
PSD	5662	broad.mit.edu	37	10	104176550	104176550	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr10:104176550G>T	ENST00000020673.5	-	2	772	c.246C>A	c.(244-246)ccC>ccA	p.P82P	PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Silent_p.P82P	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	82	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGGGTGCCCAGGGTGAGGGAG	0.662000													24	30					3.28513e-13	7.18422e-12	0.000586117	1	0
ZNF300	91975	broad.mit.edu	37	5	150275222	150275222	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:150275222C>A	ENST00000446148.2	-	7	2054	c.1627G>T	c.(1627-1629)Ggg>Tgg	p.G543W	ZNF300_ENST00000274599.5_Missense_Mutation_p.G527W|ZNF300_ENST00000418587.2_Missense_Mutation_p.G491W|ZNF300_ENST00000394226.2_Missense_Mutation_p.G527W|ZNF300_ENST00000427179.1_3'UTR	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGGCTTTCCCACATTCAGTA	0.433000													16	25					1.02788e-11	2.04894e-10	0.000566183	1	0
IGHV3-20	28445	broad.mit.edu	37	14	106667806	106667806	+	RNA	SNP	T	T	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr14:106667806T>G	ENST00000390606.2	-	0	187																											ATCCAGAGGCTGCACAGGAGA	0.577000													18	44					0	0	0.000566183	0	0
C9	735	broad.mit.edu	37	5	39331858	39331858	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:39331858C>A	ENST00000263408.4	-	5	630	c.535G>T	c.(535-537)Gga>Tga	p.G179*	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	179	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTACAGAGTCCATTGTAGAAC	0.438000													55	280					1.17253e-29	4.25988e-28	0.000781405	1	0
PTGIS	5740	broad.mit.edu	37	20	48124461	48124461	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:48124461G>T	ENST00000244043.4	-	10	1528	c.1499C>A	c.(1498-1500)cCa>cAa	p.P500Q	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	500			P -> S (in dbSNP:rs5584).		hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	CCTGTGTCATGGGCGGATGCG	0.637000													22	28					1.88708e-17	5.03036e-16	0.000227799	1	0
ELFN2	114794	broad.mit.edu	37	22	37770177	37770177	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:37770177G>T	ENST00000402918.1	-	3	2183	c.1398C>A	c.(1396-1398)ccC>ccA	p.P466P	ELFN2_ENST00000349653.3_Silent_p.P466P|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	466						cell surface|integral to membrane		p.P466P(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGCGAGATACGGGCAGCACGG	0.647000													42	104					3.77016e-25	1.29653e-23	0.000680045	1	0
FOXN3	1112	broad.mit.edu	37	14	89628893	89628893	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr14:89628893G>T	ENST00000345097.4	-	7	1454	c.1338C>A	c.(1336-1338)ccC>ccA	p.P446P	FOXN3_ENST00000261302.5_Silent_p.P446P|FOXN3_ENST00000555353.1_Silent_p.P424P|FOXN3_ENST00000557258.1_Silent_p.P424P	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	446					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CATCGCTCTCGGGGGGCTTTT	0.582000													12	22					9.31168e-06	0.00012124	0.000151284	1	0
SPOCK3	50859	broad.mit.edu	37	4	167810285	167810285	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:167810285C>A	ENST00000357154.3	-	7	731	c.594G>T	c.(592-594)aaG>aaT	p.K198N	SPOCK3_ENST00000357545.4_Missense_Mutation_p.K195N|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512648.1_Missense_Mutation_p.K195N|SPOCK3_ENST00000506886.1_Missense_Mutation_p.K198N|SPOCK3_ENST00000421836.2_Missense_Mutation_p.K147N|SPOCK3_ENST00000512681.1_Missense_Mutation_p.K100N|SPOCK3_ENST00000511531.1_Missense_Mutation_p.K198N|SPOCK3_ENST00000541637.1_Missense_Mutation_p.K100N|SPOCK3_ENST00000511269.1_Missense_Mutation_p.K195N|SPOCK3_ENST00000541354.1_Missense_Mutation_p.K78N|SPOCK3_ENST00000504953.1_Missense_Mutation_p.K195N|SPOCK3_ENST00000502330.1_Missense_Mutation_p.K198N|SPOCK3_ENST00000534949.1_Missense_Mutation_p.K102N|SPOCK3_ENST00000535728.1_Missense_Mutation_p.K106N|SPOCK3_ENST00000510741.1_Missense_Mutation_p.K195N	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	198					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ACTTACCTCTCTTAACATTTC	0.333000													34	34					8.73648e-17	2.26195e-15	0.000814825	1	0
MYO18A	399687	broad.mit.edu	37	17	27442428	27442428	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:27442428C>A	ENST00000527372.1	-	13	2439	c.2259G>T	c.(2257-2259)gaG>gaT	p.E753D	MYO18A_ENST00000354329.4_Missense_Mutation_p.E753D|MYO18A_ENST00000533112.1_Missense_Mutation_p.E753D|MYO18A_ENST00000531253.1_Missense_Mutation_p.E753D	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	753	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCGCCATGCCCTCAAGGCACT	0.632000													16	32					7.45023e-12	1.50508e-10	0.000175454	1	0
TNIP1	10318	broad.mit.edu	37	5	150439957	150439957	+	Splice_Site	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:150439957C>A	ENST00000389378.2	-	5	946		c.e5-1		TNIP1_ENST00000523338.1_Splice_Site|TNIP1_ENST00000521591.1_Splice_Site|TNIP1_ENST00000522226.1_Splice_Site|TNIP1_ENST00000315050.7_Splice_Site|TNIP1_ENST00000518977.1_Splice_Site|TNIP1_ENST00000520931.1_Splice_Site|TNIP1_ENST00000524280.1_Splice_Site|TNIP1_ENST00000523200.1_Splice_Site	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1						defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGAGGTGCCCTGTGCAGAAA	0.577000													18	22					3.51602e-12	7.23272e-11	0.000132079	1	0
FLI1	2313	broad.mit.edu	37	11	128651878	128651878	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:128651878C>A	ENST00000344954.6	+	5	904	c.516C>A	c.(514-516)acC>acA	p.T172T	FLI1_ENST00000525560.1_Silent_p.T12T|FLI1_ENST00000281428.8_Silent_p.T139T|FLI1_ENST00000429175.2_Silent_p.T205T|FLI1_ENST00000534087.1_Silent_p.T172T			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	205	PNT.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		ATAATACAACCTCCCACACCG	0.423000			T	EWSR1	Ewing sarcoma								40	75					1.33152e-38	5.26184e-37	0.000781405	1	0
SMC1B	27127	broad.mit.edu	37	22	45795021	45795021	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:45795021T>G	ENST00000357450.4	-	6	1066	c.1067A>C	c.(1066-1068)gAa>gCa	p.E356A	SMC1B_ENST00000404354.3_Missense_Mutation_p.E356A	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	356					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TAAAATTTCTTCCTCAATCTG	0.373000													54	190					0	0	0.000781405	0	0
CRISP3	10321	broad.mit.edu	37	6	49701443	49701443	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:49701443G>T	ENST00000433368.2	-	5	534	c.465C>A	c.(463-465)ccC>ccA	p.P155P	CRISP3_ENST00000263045.4_Silent_p.P145P|CRISP3_ENST00000423399.2_Silent_p.P42P|CRISP3_ENST00000393666.1_Silent_p.P132P|CRISP3_ENST00000371159.4_Silent_p.P163P	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	132					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CCACTGCGTTGGGAGTCTTTG	0.403000													37	34					1.03484e-13	2.33097e-12	0.000191422	1	0
CDO1	1036	broad.mit.edu	37	5	115152014	115152014	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:115152014C>A	ENST00000250535.4	-	1	637	c.81G>T	c.(79-81)gaG>gaT	p.E27D	CDO1_ENST00000502631.1_Intron	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	27					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	CTACATTGACCTCATCGCCGG	0.607000													57	84					9.77497e-20	2.87819e-18	0.000781405	1	0
TAS2R39	259285	broad.mit.edu	37	7	142881285	142881285	+	Missense_Mutation	SNP	G	G	T	rs4103817		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:142881285G>T	ENST00000446620.1	+	1	774	c.774G>T	c.(772-774)atG>atT	p.M258I		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	258					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					AGGCTCACATGGGGGCCATCA	0.493000													36	50					2.05212e-20	6.24648e-19	0.000191422	1	0
MAP1S	55201	broad.mit.edu	37	19	17838339	17838339	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:17838339G>T	ENST00000324096.4	+	5	2297	c.2146G>T	c.(2146-2148)Ggg>Tgg	p.G716W	MAP1S_ENST00000544059.2_Missense_Mutation_p.G690W|MAP1S_ENST00000597681.1_3'UTR	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	716	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CAGTGAGGCTGGGCTGAGCCT	0.687000													8	12					1.76689e-08	2.84281e-07	0.000442599	1	0
GALNT15	117248	broad.mit.edu	37	3	16254193	16254193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:16254193C>T	ENST00000339732.5	+	6	1818	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	GALNT15_ENST00000437509.1_Missense_Mutation_p.R439C	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15									p.R439C(1)									GAACAGGGTTCGCATTGCTGA	0.547000													46	48					0	0	0.000781405	0	0
SPTBN4	57731	broad.mit.edu	37	19	41066343	41066343	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:41066343C>A	ENST00000595535.1	+	27	6035	c.5949C>A	c.(5947-5949)tcC>tcA	p.S1983S	SPTBN4_ENST00000598249.1_Intron|SPTBN4_ENST00000392023.1_Silent_p.S659S|SPTBN4_ENST00000392025.1_Intron|SPTBN4_ENST00000352632.3_Intron|SPTBN4_ENST00000338932.3_Intron			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	0					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCCTGCCTCCCCCTGGTGGC	0.632000													19	17					8.04996e-18	2.18464e-16	0.000229342	1	0
CNGB3	54714	broad.mit.edu	37	8	87680367	87680367	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:87680367C>A	ENST00000320005.5	-	5	570	c.523G>T	c.(523-525)Gaa>Taa	p.E175*		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	175					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						TCATCGCTTTCTTTTACTGGT	0.348000													32	49					2.61193e-14	6.06534e-13	0.000279167	1	0
ADCK5	203054	broad.mit.edu	37	8	145617999	145617999	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:145617999G>T	ENST00000308860.6	+	14	1573	c.1529G>T	c.(1528-1530)cGg>cTg	p.R510L		NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	510						integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGGGCTGTCCGGGGCTGGAGC	0.692000													5	6					1.23904e-05	0.000157236	0.000602214	1	0
TTN	7273	broad.mit.edu	37	2	179585273	179585273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:179585273C>T	ENST00000589042.1	-	80	23440	c.23216G>A	c.(23215-23217)cGa>cAa	p.R7739Q	TTN_ENST00000342992.6_Missense_Mutation_p.R6495Q|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R7422Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7422	Ig-like 59.						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)			AACCTGCTTTCGATCTTTAAC	0.388000													16	19					0	0	0.000308642	0	0
KRT83	3889	broad.mit.edu	37	12	52710738	52710738	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:52710738G>T	ENST00000293670.3	-	5	882	c.820C>A	c.(820-822)Ctg>Atg	p.L274M		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	274	Linker 12.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCATGTTCAGGTCCCGGCTG	0.572000													36	59					1.07637e-12	2.27654e-11	0.000953801	1	0
OR5M10	390167	broad.mit.edu	37	11	56344874	56344874	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:56344874C>A	ENST00000526812.2	-	1	389	c.324G>T	c.(322-324)gtG>gtT	p.V108V		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ACTCAGTGATCACTAGGGCGA	0.443000													27	46					2.41591e-17	6.36472e-16	0.000720815	1	0
MRPS35	60488	broad.mit.edu	37	12	27863869	27863869	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:27863869G>T	ENST00000081029.3	+	1	164	c.93G>T	c.(91-93)ccG>ccT	p.P31P	MRPS35_ENST00000538315.1_Silent_p.P31P	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	31					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					CGGCCACTCCGGTCCCGACAC	0.652000													11	12					6.40141e-05	0.000783651	6.40141e-05	1	0
FANCD2	2177	broad.mit.edu	37	3	10128860	10128860	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:10128860C>A	ENST00000287647.3	+	34	3471	c.3378C>A	c.(3376-3378)ccC>ccA	p.P1126P	FANCD2_ENST00000383807.1_Silent_p.P1126P|FANCD2_ENST00000383806.1_Silent_p.P1126P|FANCD2OS_ENST00000436517.1_5'UTR|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000419585.1_Silent_p.P1126P	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1126					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAAGCATTCCCAGTTTCCAGT	0.383000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				52	116					1.11015e-26	3.93797e-25	0.000781405	1	0
SNHG14	104472715	broad.mit.edu	37	15	25472092	25472092	+	RNA	SNP	T	T	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:25472092T>A	ENST00000453082.2	+	0	1134					NR_003343.1																						AAATTTGTGTTGGGCCCACTA	0.627000													4	3					0	0	0.00024832	0	0
MUC17	140453	broad.mit.edu	37	7	100687039	100687039	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:100687039C>A	ENST00000306151.4	+	3	12406	c.12342C>A	c.(12340-12342)ccC>ccA	p.P4114P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4114						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)					CCGCTGTCCCCACGAATACTA	0.483000													19	26					2.4624e-09	4.21791e-08	0.000132079	1	0
FGFR2	2263	broad.mit.edu	37	10	123278254	123278254	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr10:123278254G>T	ENST00000457416.2	-	8	1620	c.1029C>A	c.(1027-1029)tcC>tcA	p.S343S	FGFR2_ENST00000360144.3_Silent_p.S254S|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000478859.1_Intron|FGFR2_ENST00000351936.6_Intron|FGFR2_ENST00000346997.2_Intron|FGFR2_ENST00000358487.5_Intron|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369056.1_Silent_p.S343S|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000369059.1_Silent_p.S228S|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000357555.5_Intron	NM_022970.3	NP_075259.4	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	345	Ig-like C2-type 3.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CTATATAATTGGAGACCTTAC	0.443000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				25	34					2.41591e-17	6.36472e-16	0.000720815	1	0
APOD	347	broad.mit.edu	37	3	195300832	195300832	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:195300832C>A	ENST00000343267.3	-	3	495	c.134G>T	c.(133-135)aGa>aTa	p.R45I		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	45					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TTCGTACCATCTTCCGAGATA	0.488000													18	43					2.37509e-13	5.24499e-12	0.000175454	1	0
ATP8B2	57198	broad.mit.edu	37	1	154300326	154300326	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:154300326C>A	ENST00000368489.3	+	1	51	c.51C>A	c.(49-51)tcC>tcA	p.S17S	ATP8B2_ENST00000368487.3_Intron	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	0					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCCTCTTCTCCTTTCCCTACA	0.547000													34	173					6.53348e-20	1.94923e-18	0.000692331	1	0
ANKRD13A	88455	broad.mit.edu	37	12	110449912	110449912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:110449912G>A	ENST00000261739.4	+	2	365	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	67										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						TAAAGCAGATGTGACAAAAGA	0.433000													16	16					0	0	0.00074312	0	0
VPRBP	9730	broad.mit.edu	37	3	51475839	51475839	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:51475839G>T	ENST00000335891.5	-	6	597	c.588C>A	c.(586-588)ccC>ccA	p.P196P				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	196					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TCCGTGGACTGGGACGCTTGT	0.502000													101	112					2.18974e-44	8.88721e-43	0.000781405	1	0
OR13C9	286362	broad.mit.edu	37	9	107380171	107380171	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:107380171C>A	ENST00000259362.1	-	1	314	c.315G>T	c.(313-315)ttG>ttT	p.L105F		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TCCCCATGGCCAAGCCAAGGA	0.502000													43	55					1.15505e-17	3.11586e-16	0.000437636	1	0
NLRC3	197358	broad.mit.edu	37	16	3614431	3614431	+	RNA	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:3614431C>A	ENST00000301749.7	-	0	912				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCGAGAAGTCCTTGCCGACCT	0.657000													15	21					3.10358e-05	0.00038946	0.000295444	1	0
TCHH	7062	broad.mit.edu	37	1	152082741	152082741	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:152082741C>A	ENST00000368804.1	-	2	2951	c.2952G>T	c.(2950-2952)caG>caT	p.Q984H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	984	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tctcccgctcctggcgccttc	0.577000													85	44					1.81475e-65	7.56986e-64	0.000781405	1	0
HDAC10	83933	broad.mit.edu	37	22	50686332	50686332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:50686332C>T	ENST00000216271.5	-	13	1676	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	HDAC10_ENST00000349505.4_Missense_Mutation_p.E422K|HDAC10_ENST00000448072.1_Missense_Mutation_p.E392K|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	442					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCCAGGCTTCTGTCTCCTCC	0.632000													16	10					0	0	0.000375601	0	0
ANK3	288	broad.mit.edu	37	10	61834852	61834852	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr10:61834852G>T	ENST00000280772.1	-	37	5978	c.5787C>A	c.(5785-5787)ttC>ttA	p.F1929L	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1929					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTCAGGTTGGAATGGCTTCT	0.408000													14	26					3.27435e-08	5.15768e-07	0.000219431	1	0
CLP1	10978	broad.mit.edu	37	11	57427470	57427470	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:57427470C>A	ENST00000533682.1	+	2	1247	c.522C>A	c.(520-522)gtC>gtA	p.V174V	CLP1_ENST00000525602.1_Silent_p.V174V|CLP1_ENST00000302731.4_Intron|CLP1_ENST00000529430.1_Silent_p.V185V			Q92989	CLP1_HUMAN	cleavage and polyadenylation factor I subunit 1	174					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						CTGCAGATGTCGAAGAGGGTT	0.547000													11	13					1.58986e-06	2.19032e-05	0.000673444	1	0
OAS3	4940	broad.mit.edu	37	12	113405891	113405891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:113405891C>T	ENST00000228928.7	+	14	3195	c.3016C>T	c.(3016-3018)Cgc>Tgc	p.R1006C	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	1006	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CACCCAGTACCGCCAGCTCTG	0.567000													16	22					0	0	0.000566183	0	0
HMHA1	23526	broad.mit.edu	37	19	1084305	1084305	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:1084305G>T	ENST00000313093.2	+	22	3255	c.3024G>T	c.(3022-3024)gtG>gtT	p.V1008V	HMHA1_ENST00000543365.1_Silent_p.V891V|HMHA1_ENST00000590214.1_Silent_p.V1035V|HMHA1_ENST00000536472.1_Silent_p.V876V|HMHA1_ENST00000586866.1_Silent_p.V1012V|HMHA1_ENST00000539243.2_Silent_p.V1024V|HMHA1_ENST00000591169.1_3'UTR|HMHA1_ENST00000590577.1_Silent_p.V643V	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	1008					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GCGAGGCGGTGGTCTACCCGC	0.682000													23	36					3.62473e-10	6.63797e-09	0.000229342	1	0
ZBED6CL	113763	broad.mit.edu	37	7	150027647	150027647	+	Silent	SNP	T	T	C			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:150027647T>C	ENST00000343855.4	+	1	710	c.154T>C	c.(154-156)Ttg>Ctg	p.L52L	LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000323078.7_Intron	NM_138434.2	NP_612443.1			ZBED6 C-terminal like																		GGCTGAGGGGTTGGCCCGGCA	0.607000													36	68					0	0	0.000270559	0	0
HDAC10	83933	broad.mit.edu	37	22	50686482	50686482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:50686482C>T	ENST00000216271.5	-	13	1526	c.1174G>A	c.(1174-1176)Gca>Aca	p.A392T	HDAC10_ENST00000349505.4_Missense_Mutation_p.A372T|HDAC10_ENST00000448072.1_Missense_Mutation_p.A342T|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	392					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTGCAGATGCAGCTGCCTTA	0.652000													38	11					0	0	0.000814825	0	0
FCER1A	2205	broad.mit.edu	37	1	159275846	159275846	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:159275846G>T	ENST00000368115.1	+	5	499	c.400G>T	c.(400-402)Ggt>Tgt	p.G134C	FCER1A_ENST00000368114.1_Missense_Mutation_p.G101C	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	134	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CAGGTGCCATGGTTGGAGGAA	0.468000													19	56					1.00905e-13	2.2843e-12	0.000132079	1	0
WWP2	11060	broad.mit.edu	37	16	69875994	69875994	+	Silent	SNP	C	C	A	rs150363676		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:69875994C>A	ENST00000359154.2	+	6	647	c.546C>A	c.(544-546)ccC>ccA	p.P182P	WWP2_ENST00000542271.1_Silent_p.P66P|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Silent_p.P182P|WWP2_ENST00000569174.1_Silent_p.P182P|WWP2_ENST00000448661.1_Silent_p.P182P	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	182					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCAGCCCCCCAGCACAAACT	0.498000													10	10					1.08611e-07	1.63643e-06	6.40141e-05	1	0
APOA5	116519	broad.mit.edu	37	11	116661594	116661594	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:116661594C>A	ENST00000542499.1	-	4	423	c.351G>T	c.(349-351)ctG>ctT	p.L117L	APOA5_ENST00000227665.4_Silent_p.L117L	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	117					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TCCAGCCCACCAGCTCGTGCG	0.657000													86	138					2.5963e-48	1.07306e-46	0.000781405	1	0
TRIM69	140691	broad.mit.edu	37	15	45050916	45050916	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:45050916G>T	ENST00000558173.1	+	2	4810	c.65G>T	c.(64-66)cGg>cTg	p.R22L	TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000338264.4_Missense_Mutation_p.R67L|TRIM69_ENST00000559390.1_Missense_Mutation_p.R226L|TRIM69_ENST00000560442.1_Missense_Mutation_p.R22L|TRIM69_ENST00000329464.4_Missense_Mutation_p.R226L|TRIM69_ENST00000558329.1_Missense_Mutation_p.R22L			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	226	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		ACTGAGCTCCGGGAAGAGGGG	0.468000													20	31					5.35267e-07	7.65516e-06	0.000958276	1	0
SLC27A3	11000	broad.mit.edu	37	1	153748448	153748448	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:153748448G>T	ENST00000271857.2	+	1	1619	c.859G>T	c.(859-861)Gga>Tga	p.G287*	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Nonsense_Mutation_p.G206*			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	206					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGAGGTGGAGGAGCCGCCGC	0.726000													5	9					0.000602214	0.00683369	0.000602214	1	0
PROSER1	80209	broad.mit.edu	37	13	39587682	39587682	+	Silent	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr13:39587682C>T	ENST00000352251.3	-	11	2540	c.1707G>A	c.(1705-1707)acG>acA	p.T569T	PROSER1_ENST00000350125.3_Silent_p.T547T|PROSER1_ENST00000484434.2_Intron	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	569	Ser-rich.																CTGGCACTGACGTGGAAGCTG	0.572000													24	270					0	0	0.000375601	0	0
C10orf54	64115	broad.mit.edu	37	10	73511607	73511607	+	Missense_Mutation	SNP	C	C	T	rs141431398		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr10:73511607C>T	ENST00000394957.3	-	6	774	c.716G>A	c.(715-717)gGg>gAg	p.G239E	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	239						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GTTTTCAATCCCTTGAATGTT	0.587000													12	17					0	0	0.000308642	0	0
ARMCX1	51309	broad.mit.edu	37	X	100808228	100808228	+	Silent	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chrX:100808228G>A	ENST00000372829.3	+	4	686	c.315G>A	c.(313-315)gaG>gaA	p.E105E		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	105						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						GTGGCCTAGAGGCCAAGGCCA	0.567000													17	9					0	0	0.000958276	0	0
ASPG	374569	broad.mit.edu	37	14	104559928	104559928	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr14:104559928C>A	ENST00000551177.1	+	3	384	c.292C>A	c.(292-294)Cag>Aag	p.Q98K	ASPG_ENST00000455920.2_Missense_Mutation_p.Q98K|ASPG_ENST00000546892.2_Missense_Mutation_p.Q98K	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	98	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TTGCCTTGCCCAGACCATCAA	0.642000													17	45					5.35267e-07	7.65516e-06	0.000958276	1	0
GLI2	2736	broad.mit.edu	37	2	121736037	121736037	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:121736037G>T	ENST00000452319.1	+	10	1456	c.1396G>T	c.(1396-1398)Gag>Tag	p.E466*	GLI2_ENST00000314490.11_Nonsense_Mutation_p.E138*|GLI2_ENST00000361492.4_Nonsense_Mutation_p.E466*|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	466					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CATCCACGGGGAGAAGAAGGA	0.632000													34	65					3.33393e-15	8.20731e-14	0.000953801	1	0
KCNB1	3745	broad.mit.edu	37	20	47990039	47990039	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:47990039G>T	ENST00000371741.4	-	2	2224	c.2058C>A	c.(2056-2058)ccC>ccA	p.P686P		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	686					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCCCTAGAACGGGGAGGAGTG	0.557000													26	29					2.27525e-19	6.52867e-18	0.000586117	1	0
MARK1	4139	broad.mit.edu	37	1	220826477	220826477	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:220826477G>T	ENST00000402574.1	+	16	2368	c.1366G>T	c.(1366-1368)Gct>Tct	p.A456S	MARK1_ENST00000366917.4_Missense_Mutation_p.A591S|MARK1_ENST00000366918.4_Missense_Mutation_p.A569S	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	591					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTCCCCATCTGCTCACAGTAT	0.498000													15	60					2.23348e-06	3.02158e-05	0.000422831	1	0
ZNF514	84874	broad.mit.edu	37	2	95815421	95815421	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:95815421C>A	ENST00000295208.2	-	5	1271	c.809G>T	c.(808-810)aGc>aTc	p.S270I	ZNF514_ENST00000411425.1_Missense_Mutation_p.S270I	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						CGAACTCTGGCTGAAGGCTCT	0.428000													22	27					1.50039e-11	2.92609e-10	0.000229342	1	0
OSMR	9180	broad.mit.edu	37	5	38924539	38924539	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:38924539C>G	ENST00000274276.3	+	14	2288	c.1886C>G	c.(1885-1887)cCt>cGt	p.P629R		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	629	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TCAGACAACCCTCACGTGCTG	0.408000													18	92					0	0	0.000132079	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46388613	46388613	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:46388613C>A	ENST00000302165.3	-	1	763	c.420G>T	c.(418-420)ctG>ctT	p.L140L		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CCTCACGGCCCAGCCCATTGG	0.711000													9	11					1.12685e-05	0.000145457	0.000274275	1	0
FREM2	341640	broad.mit.edu	37	13	39266448	39266448	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr13:39266448C>A	ENST00000280481.7	+	1	5183	c.4967C>A	c.(4966-4968)cCc>cAc	p.P1656H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1656					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)		AACAGTGTCCCCCAAATCGCA	0.483000													30	393					3.57733e-08	5.61528e-07	0.000279167	1	0
KRT85	3891	broad.mit.edu	37	12	52756730	52756730	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:52756730C>A	ENST00000257901.3	-	6	1060	c.985G>T	c.(985-987)Ggg>Tgg	p.G329W	KRT85_ENST00000544265.1_Missense_Mutation_p.G117W	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	329	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGGTCTCCCCATGCCTGATC	0.597000													18	21					8.34094e-07	1.15975e-05	0.000132079	1	0
CLDN8	9073	broad.mit.edu	37	21	31587640	31587640	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr21:31587640G>T	ENST00000399899.1	-	1	751	c.604C>A	c.(604-606)Cat>Aat	p.H202N	CLDN8_ENST00000286809.1_Missense_Mutation_p.H202N	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	202					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						GTTGTGCGATGGGAAGGTATC	0.443000													30	67					3.03874e-20	9.12635e-19	0.00058488	1	0
RIBC1	158787	broad.mit.edu	37	X	53454997	53454997	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chrX:53454997G>T	ENST00000457095.1	+	4	368	c.164G>T	c.(163-165)cGg>cTg	p.R55L	RIBC1_ENST00000414955.2_Missense_Mutation_p.R55L|RIBC1_ENST00000375327.3_Missense_Mutation_p.R55L	NM_144968.2	NP_659405.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	55										lung(2)	2						CGAAAGCGTCGGGAAGCAGCA	0.562000													7	5					3.09899e-07	4.5181e-06	0.000274275	1	0
OGFOD3	79701	broad.mit.edu	37	17	80361888	80361888	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:80361888G>T	ENST00000313056.5	-	7	775	c.624C>A	c.(622-624)ccC>ccA	p.P208P	OGFOD3_ENST00000329197.5_Silent_p.P208P	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3			2-oxoglutarate and iron-dependent oxygenase domain containing 3																		AGAAGAAGGTGGGCTTGGTCA	0.622000													12	18					1.61879e-10	3.03861e-09	0.00010058	1	0
DNAJC25	548645	broad.mit.edu	37	9	114411942	114411942	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:114411942G>T	ENST00000313525.3	+	3	755	c.699G>T	c.(697-699)aaG>aaT	p.K233N	DNAJC25-GNG10_ENST00000374294.3_Intron|DNAJC25_ENST00000556107.1_Intron	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	233					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						TAGATATAAAGGGGGGCTATC	0.353000													11	26					2.27111e-07	3.33269e-06	0.00010058	1	0
FCGBP	8857	broad.mit.edu	37	19	40420122	40420122	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:40420122C>A	ENST00000221347.6	-	6	2879	c.2872G>T	c.(2872-2874)Ggg>Tgg	p.G958W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	958	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCACCTGCCCATCTGCTGCT	0.587000													9	22					2.27111e-07	3.33269e-06	0.00010058	1	0
CLDN17	26285	broad.mit.edu	37	21	31538470	31538470	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr21:31538470C>A	ENST00000286808.3	-	1	501	c.466G>T	c.(466-468)Ggt>Tgt	p.G156C		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	156					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						CGTTTCTGACCTATGTGGATG	0.517000													26	34					4.26978e-12	8.70378e-11	0.00047179	1	0
TERT	7015	broad.mit.edu	37	5	1278788	1278788	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:1278788G>T	ENST00000310581.5	-	6	2311	c.2254C>A	c.(2254-2256)Cat>Aat	p.H752N	TERT_ENST00000508104.2_Missense_Mutation_p.H752N|TERT_ENST00000334602.6_Missense_Mutation_p.H752N|TERT_ENST00000296820.5_Missense_Mutation_p.H752N	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	752	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACGTGCCCATGGGCGGCCTTC	0.572000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				72	362					1.69816e-31	6.42874e-30	0.000781405	1	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086528	46086528	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr21:46086528G>T	ENST00000360770.3	-	1	316	c.276C>A	c.(274-276)ccC>ccA	p.P92P	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	92	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						CACACACAATGGGCCTGCAGC	0.627000													19	34					1.01871e-10	1.94462e-09	0.000132079	1	0
GALNT13	114805	broad.mit.edu	37	2	155265526	155265526	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:155265526G>T	ENST00000392825.3	+	11	1894	c.1327G>T	c.(1327-1329)Gac>Tac	p.D443Y	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.D443Y	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	443	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCAGTGTTTAGACAACATGGG	0.368000													31	36					8.53417e-09	1.4083e-07	0.000491102	1	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254032	39254032	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:39254032G>T	ENST00000333822.4	-	1	361	c.305C>A	c.(304-306)cCc>cAc	p.P102H		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	102	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						acagcagctggggcggcagca	0.662000													8	19					1.76689e-08	2.84281e-07	0.000442599	1	0
NR3C2	4306	broad.mit.edu	37	4	149075847	149075847	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:149075847C>A	ENST00000355292.3	-	5	2594	c.2232G>T	c.(2230-2232)atG>atT	p.M744I	RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000344721.4_Missense_Mutation_p.M740I|NR3C2_ENST00000511528.1_Missense_Mutation_p.M744I|NR3C2_ENST00000358102.3_Missense_Mutation_p.M740I			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	740	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTTCAAGGACCATAACGGGGG	0.502000													47	97					6.08268e-21	1.87688e-19	0.000781405	1	0
EFCAB4A	283229	broad.mit.edu	37	11	828772	828772	+	Splice_Site	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:828772G>T	ENST00000450448.1	+	2	670	c.165_splice	c.e2+1	p.Q55_splice	EFCAB4A_ENST00000525077.1_Splice_Site_p.Q55_splice|EFCAB4A_ENST00000528542.2_Splice_Site_p.Q55_splice|AP006621.8_ENST00000532946.1_RNA	NM_173584.3	NP_775855.3	Q8N4Y2	EFC4A_HUMAN	EF-hand calcium binding domain 4A	55	EF-hand 1.				store-operated calcium entry		calcium ion binding			endometrium(1)|large_intestine(1)|lung(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGACCTGCAGGTGAGTCCCC	0.637000													18	40					2.94398e-08	4.70306e-07	0.000958276	1	0
CWH43	80157	broad.mit.edu	37	4	49030677	49030677	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:49030677G>T	ENST00000226432.4	+	10	1481	c.1298G>T	c.(1297-1299)tGg>tTg	p.W433L	CWH43_ENST00000513409.1_Missense_Mutation_p.W406L	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	433					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						GCTGCCATCTGGCCTTTCAGG	0.443000													21	64					3.7963e-18	1.04922e-16	0.00047179	1	0
CDH26	60437	broad.mit.edu	37	20	58571080	58571080	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:58571080C>A	ENST00000348616.4	+	12	2159	c.1859C>A	c.(1858-1860)cCt>cAt	p.P620H	CDH26_ENST00000244047.5_Missense_Mutation_p.P620H|CDH26_ENST00000497614.1_3'UTR	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	620					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GCCCTGTTCCCTGTCTGTGCA	0.592000													18	19					0.000229342	0.00267664	0.000229342	1	0
CCKBR	887	broad.mit.edu	37	11	6292680	6292680	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:6292680C>A	ENST00000525462.1	+	4	1461	c.1458C>A	c.(1456-1458)ccC>ccA	p.P486P	CCKBR_ENST00000532715.1_Silent_p.P333P|CCKBR_ENST00000334619.2_Silent_p.P417P			P32239	GASR_HUMAN	cholecystokinin B receptor	417					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GAGCTCGCCCCAGGGCTCTTC	0.642000													6	36					8.12818e-05	0.000981702	8.12818e-05	1	0
EFCAB6	64800	broad.mit.edu	37	22	44107483	44107483	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:44107483C>A	ENST00000262726.7	-	10	1156	c.903G>T	c.(901-903)aaG>aaT	p.K301N	EFCAB6_ENST00000358439.4_Missense_Mutation_p.K195N|EFCAB6_ENST00000396231.2_Missense_Mutation_p.K149N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	301	EF-hand 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCTTTTCAACCTTTTCATAAG	0.368000													15	11					3.45872e-05	0.00043282	0.000422831	1	0
NLRP3	114548	broad.mit.edu	37	1	247599359	247599359	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:247599359G>T	ENST00000336119.3	+	6	3332	c.2586G>T	c.(2584-2586)gtG>gtT	p.V862V	NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000366496.2_Intron|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391827.2_Silent_p.V805V|NLRP3_ENST00000391828.3_Silent_p.V862V	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	862					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GACTCTATGTGGGGGAGAATG	0.488000													30	73					7.72975e-29	2.7858e-27	0.000491102	1	0
EPHB2	2048	broad.mit.edu	37	1	23235514	23235514	+	Splice_Site	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:23235514G>T	ENST00000400191.3	+	13	2370		c.e13-1		EPHB2_ENST00000374632.3_Splice_Site|EPHB2_ENST00000374627.1_Splice_Site|EPHB2_ENST00000374630.3_Splice_Site	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2						axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CTGTCTCCCAGGGCGGAAAGA	0.592000													4	7					0.000602214	0.00683369	0.000602214	1	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53217458	53217458	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr13:53217458G>T	ENST00000342657.3	+	7	1904	c.831G>T	c.(829-831)aaG>aaT	p.K277N	HNRNPA1L2_ENST00000357495.2_Missense_Mutation_p.K277N|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.K277N	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	277	Gly-rich.|Nuclear targeting sequence (By similarity).				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding			cervix(1)|large_intestine(1)|lung(5)	7						GACCCATGAAGGGAGGAAATT	0.448000													31	15					9.9998e-32	3.81772e-30	0.000589545	1	0
OR51A4	401666	broad.mit.edu	37	11	4967462	4967462	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:4967462G>T	ENST00000380373.2	-	1	894	c.869C>A	c.(868-870)cCa>cAa	p.P290Q	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	290					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)		ATAAACAATTGGGTTCGTCAG	0.423000													14	110					2.32078e-09	4.0058e-08	0.000308642	1	0
FAHD1	81889	broad.mit.edu	37	16	1877845	1877845	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:1877845C>A	ENST00000382666.4	+	1	878	c.615C>A	c.(613-615)atC>atA	p.I205I	FAHD1_ENST00000427358.2_Silent_p.I205I|FAHD1_ENST00000382668.4_Silent_p.I205I	NM_001018104.2	NP_001018114.1	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing 1	205						mitochondrion	hydrolase activity|metal ion binding|protein binding			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						ACGATGAGATCGAGGCTGGCA	0.423000													21	39					4.72057e-08	7.28294e-07	0.000586117	1	0
TEX2	55852	broad.mit.edu	37	17	62291306	62291306	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:62291306G>A	ENST00000258991.3	-	2	356	c.272C>T	c.(271-273)tCg>tTg	p.S91L	TEX2_ENST00000583097.1_Missense_Mutation_p.S91L|TEX2_ENST00000584379.1_Missense_Mutation_p.S91L			Q8IWB9	TEX2_HUMAN	testis expressed 2	91					signal transduction|sphingolipid metabolic process	integral to membrane		p.S91L(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CAGGACAGGCGAGGCAGCAGG	0.592000													126	90					0	0	0.000781405	0	0
KANSL1	284058	broad.mit.edu	37	17	44111638	44111638	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:44111638C>A	ENST00000262419.6	-	11	3025	c.2555G>T	c.(2554-2556)aGg>aTg	p.R852M	KANSL1_ENST00000432791.1_Missense_Mutation_p.R852M|KANSL1_ENST00000393476.3_Missense_Mutation_p.R146M|KANSL1_ENST00000574590.1_Missense_Mutation_p.R852M|KANSL1_ENST00000572904.1_Missense_Mutation_p.R852M|KANSL1_ENST00000575318.1_Missense_Mutation_p.R788M	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	852						MLL1 complex	protein binding										CCTTCTCCTCCTTACTGGCTG	0.378000													12	63					1.61879e-10	3.03861e-09	0.00010058	1	0
VAT1L	57687	broad.mit.edu	37	16	77896747	77896747	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:77896747C>A	ENST00000302536.2	+	4	835	c.682C>A	c.(682-684)Ctc>Atc	p.L228I	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	228							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TGTGACCCACCTCTTTGACAG	0.473000													26	69					1.42536e-11	2.79184e-10	0.000720815	1	0
ZZEF1	23140	broad.mit.edu	37	17	3947527	3947527	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:3947527C>A	ENST00000381638.2	-	38	6281	c.6157G>T	c.(6157-6159)Gga>Tga	p.G2053*		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2053							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CCTGGAAGTCCTGTAGGTGGG	0.423000													28	11					3.03874e-20	9.12635e-19	0.00058488	1	0
ZNF462	58499	broad.mit.edu	37	9	109687519	109687519	+	Silent	SNP	C	C	A	rs144393411		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:109687519C>A	ENST00000277225.5	+	3	1615	c.1326C>A	c.(1324-1326)ccC>ccA	p.P442P	ZNF462_ENST00000457913.1_Silent_p.P442P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	442					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TCCAGTGCCCCTTTTGTCCTT	0.463000													16	90					1.40151e-16	3.58739e-15	0.000175454	1	0
HDAC10	83933	broad.mit.edu	37	22	50686864	50686864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:50686864C>T	ENST00000216271.5	-	11	1296	c.944G>A	c.(943-945)tGc>tAc	p.C315Y	HDAC10_ENST00000349505.4_Missense_Mutation_p.C295Y|HDAC10_ENST00000448072.1_Missense_Mutation_p.C265Y|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	315	Histone deacetylase.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TACTGTCATGCACACTGACTC	0.657000													27	10					0	0	0.000491102	0	0
IQGAP3	128239	broad.mit.edu	37	1	156513984	156513984	+	Missense_Mutation	SNP	C	C	A	rs147371313		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:156513984C>A	ENST00000361170.2	-	21	2430	c.2420G>T	c.(2419-2421)cGg>cTg	p.R807L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	807	IQ 3.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTATTGCCTCCGAGCTGCCCA	0.577000													6	176					0.000157383	0.00184159	0.000157383	1	0
FAM46C	54855	broad.mit.edu	37	1	118166425	118166425	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:118166425G>T	ENST00000369448.3	+	2	1182	c.935G>T	c.(934-936)aGg>aTg	p.R312M		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	312										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		ATCCTTCGCAGGGTGGTGAAC	0.537000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			18	23					3.32936e-07	4.83831e-06	0.00074312	1	0
NCAPH	23397	broad.mit.edu	37	2	97009953	97009953	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:97009953G>T	ENST00000455200.1	+	6	968	c.673G>T	c.(673-675)Gat>Tat	p.D225Y	NCAPH_ENST00000240423.4_Missense_Mutation_p.D236Y|NCAPH_ENST00000427946.1_Missense_Mutation_p.D100Y			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	236					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CTCCGAAGCAGATCGGAAGTG	0.468000													30	40					1.99505e-19	5.79852e-18	0.000409698	1	0
HDAC10	83933	broad.mit.edu	37	22	50686488	50686488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:50686488C>T	ENST00000216271.5	-	13	1520	c.1168G>A	c.(1168-1170)Gca>Aca	p.A390T	HDAC10_ENST00000349505.4_Missense_Mutation_p.A370T|HDAC10_ENST00000448072.1_Missense_Mutation_p.A340T|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	390					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GATGCAGCTGCCTTACACACT	0.652000													36	11					0	0	0.00058488	0	0
CREBBP	1387	broad.mit.edu	37	16	3778993	3778993	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:3778993C>A	ENST00000262367.5	-	31	6864	c.6055G>T	c.(6055-6057)Ggg>Tgg	p.G2019W	CREBBP_ENST00000382070.3_Missense_Mutation_p.G1981W	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2019					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)		TGCCACTGCCCGGGAGGCATG	0.726000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						5	5					8.12818e-05	0.000981702	8.12818e-05	1	0
GAD2	2572	broad.mit.edu	37	10	26508003	26508003	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr10:26508003C>A	ENST00000376261.3	+	4	821	c.318C>A	c.(316-318)ccC>ccA	p.P106P	GAD2_ENST00000376248.1_5'UTR|GAD2_ENST00000259271.3_Silent_p.P106P	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	106					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GAGAAAGGCCCACTTTGGCGT	0.358000													27	39					1.75199e-13	3.90727e-12	0.000184323	1	0
MYH10	4628	broad.mit.edu	37	17	8408088	8408088	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:8408088A>C	ENST00000360416.3	-	28	3661	c.3523T>G	c.(3523-3525)Ttg>Gtg	p.L1175V	MYH10_ENST00000269243.4_Missense_Mutation_p.L1144V|MYH10_ENST00000379980.4_Missense_Mutation_p.L1160V|MYH10_ENST00000396239.1_Missense_Mutation_p.L1165V	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1144					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCTCACTCAAGTCCCTTTTC	0.527000													31	29					0	0	0.000409698	0	0
FAM129A	116496	broad.mit.edu	37	1	184863270	184863270	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:184863270C>A	ENST00000367511.3	-	3	450	c.257G>T	c.(256-258)tGg>tTg	p.W86L		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	86					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCTCTCCTTCCACTTCTTTAT	0.353000													31	107					1.61788e-16	4.09469e-15	0.000409698	1	0
CPZ	8532	broad.mit.edu	37	4	8613821	8613821	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:8613821G>T	ENST00000429646.2	+	6	2912	c.119G>T	c.(118-120)aGg>aTg	p.R40M	CPZ_ENST00000360986.4_Missense_Mutation_p.R432M|CPZ_ENST00000315782.6_Missense_Mutation_p.R421M|CPZ_ENST00000382480.2_Missense_Mutation_p.R295M			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	432	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCGGAGAATAGGTGTGGAGGC	0.587000													8	37					5.18039e-06	6.80398e-05	0.000157383	1	0
NDC80	10403	broad.mit.edu	37	18	2577813	2577813	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr18:2577813C>A	ENST00000261597.4	+	4	430	c.248C>A	c.(247-249)cCg>cAg	p.P83Q		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	83	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						ATCAAGGACCCGAGACCACTT	0.363000													35	33					2.20474e-14	5.14629e-13	0.000692331	1	0
SI	6476	broad.mit.edu	37	3	164737442	164737442	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:164737442C>A	ENST00000264382.3	-	28	3433	c.3371G>T	c.(3370-3372)cGa>cTa	p.R1124L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1124	Sucrase.				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)	GTTCAGATCTCGCTTAAATGC	0.438000										HNSCC(35;0.089)			26	34					1.16021e-09	2.05777e-08	0.000184323	1	0
EPS8	2059	broad.mit.edu	37	12	15784514	15784514	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:15784514G>T	ENST00000281172.5	-	18	2342	c.1906C>A	c.(1906-1908)Ccc>Acc	p.P636T	EPS8_ENST00000542903.1_Missense_Mutation_p.P376T|EPS8_ENST00000540613.1_Missense_Mutation_p.P376T|EPS8_ENST00000543523.1_Missense_Mutation_p.P636T|EPS8_ENST00000543612.1_Missense_Mutation_p.P636T	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	636	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GGGGGAAGGGGAACAGGAACA	0.507000													16	44					1.67942e-08	2.74122e-07	0.00074312	1	0
TNRC6B	23112	broad.mit.edu	37	22	40704566	40704566	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:40704566G>T	ENST00000454349.2	+	16	4382	c.4171G>T	c.(4171-4173)Gga>Tga	p.G1391*	TNRC6B_ENST00000402203.1_Nonsense_Mutation_p.G587*|TNRC6B_ENST00000335727.8_Nonsense_Mutation_p.G1281*|TNRC6B_ENST00000301923.9_Nonsense_Mutation_p.G587*	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1391					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GAAGGAGGCTGGAACCGAGTC	0.498000													52	25					6.60958e-23	2.17344e-21	0.000781405	1	0
CSMD1	64478	broad.mit.edu	37	8	2820092	2820092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:2820092G>A	ENST00000602557.1	-	62	10082	c.9527C>T	c.(9526-9528)tCc>tTc	p.S3176F	CSMD1_ENST00000602723.1_Missense_Mutation_p.S2999F|CSMD1_ENST00000400186.3_Missense_Mutation_p.S2999F|CSMD1_ENST00000537824.1_Missense_Mutation_p.S3175F|CSMD1_ENST00000542608.1_Missense_Mutation_p.S2998F|CSMD1_ENST00000520002.1_Missense_Mutation_p.S3176F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3176	Sushi 26.					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)		GAAGACTTCGGACTTATAGGT	0.527000													13	19					0	0	0.00010058	0	0
NOTCH3	4854	broad.mit.edu	37	19	15276723	15276723	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:15276723G>T	ENST00000263388.2	-	30	5617	c.5542C>A	c.(5542-5544)Cgt>Agt	p.R1848S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1848					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGGGCATAACGGGCAGCCAGG	0.627000													12	14					0.00010058	0.00120189	0.00010058	1	0
RGR	5995	broad.mit.edu	37	10	86012746	86012746	+	Silent	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr10:86012746G>A	ENST00000359452.4	+	4	542	c.504G>A	c.(502-504)ctG>ctA	p.L168L	RGR_ENST00000358110.5_Silent_p.L164L	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	164					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						GCTGCACCCTGGACTACTCCA	0.587000													12	14					0	0	0.000308642	0	0
CMYA5	202333	broad.mit.edu	37	5	79030367	79030367	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:79030367G>T	ENST00000446378.2	+	2	5810	c.5779G>T	c.(5779-5781)Ggg>Tgg	p.G1927W		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1927						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)		GCTGAGGCCAGGGCAGCTCAA	0.498000													16	35					1.15088e-07	1.72249e-06	0.000422831	1	0
OR52J3	119679	broad.mit.edu	37	11	5067867	5067867	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:5067867C>A	ENST00000380370.1	+	1	112	c.112C>A	c.(112-114)Ctt>Att	p.L38I		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCTGTTTACCTTGTGGCTTT	0.488000													10	37					2.17888e-05	0.000274186	0.000442599	1	0
OR4M1	441670	broad.mit.edu	37	14	20248596	20248596	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr14:20248596C>A	ENST00000315957.4	+	1	196	c.115C>A	c.(115-117)Cta>Ata	p.L39I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTGTTCATCCTACCAGGAAA	0.423000													69	106					2.92363e-43	1.17598e-41	0.000781405	1	0
PCLO	27445	broad.mit.edu	37	7	82582386	82582386	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:82582386G>T	ENST00000423517.2	-	5	8220	c.7883C>A	c.(7882-7884)gCt>gAt	p.A2628D	PCLO_ENST00000333891.8_Missense_Mutation_p.A2628D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2559					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						AATTTCTACAGCTGTCACAGG	0.448000													14	74					3.27435e-08	5.15768e-07	0.000219431	1	0
PNKD	25953	broad.mit.edu	37	2	219204768	219204768	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:219204768C>A	ENST00000273077.4	+	4	420	c.369C>A	c.(367-369)ccC>ccA	p.P123P	AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000258362.3_Silent_p.P99P|PNKD_ENST00000436005.2_Silent_p.P63P	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	123						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTGCTTCCCATCCCTGTCC	0.647000													15	26					2.32078e-09	4.0058e-08	0.000308642	1	0
LILRA2	11027	broad.mit.edu	37	19	55098720	55098720	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:55098720G>T	ENST00000251377.3	+	9	1492	c.1359G>T	c.(1357-1359)atG>atT	p.M453I	LILRA2_ENST00000391738.3_Missense_Mutation_p.M453I|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.M436I|LILRA2_ENST00000391737.1_Missense_Mutation_p.M424I|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron					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)		TCATCCGCATGGGTGTGGCTG	0.582000													18	33					3.5997e-14	8.2738e-13	0.000295444	1	0
TRNAU1AP	54952	broad.mit.edu	37	1	28887878	28887878	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:28887878C>A	ENST00000373830.3	+	4	272	c.246C>A	c.(244-246)aaC>aaA	p.N82K	TRNAU1AP_ENST00000495995.1_3'UTR	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	82	RRM 1.				selenocysteine incorporation	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						TTAAACTGAACTATGCCACTT	0.378000													11	19					2.32078e-09	4.0058e-08	0.000308642	1	0
SLIT3	6586	broad.mit.edu	37	5	168180101	168180101	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:168180101A>C	ENST00000519560.1	-	18	2251	c.1832T>G	c.(1831-1833)aTg>aGg	p.M611R	SLIT3_ENST00000332966.8_Missense_Mutation_p.M611R|SLIT3_ENST00000404867.3_Missense_Mutation_p.M611R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	611					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)			ACTCCTCAGCATCCTACAGGG	0.527000													4	12					0	0	3.59834e-05	0	0
RELT	84957	broad.mit.edu	37	11	73101837	73101837	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:73101837C>A	ENST00000064780.2	+	4	419	c.158C>A	c.(157-159)cCa>cAa	p.P53Q	RELT_ENST00000393580.2_Missense_Mutation_p.P53Q	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	53						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CCCTGCCCCCCAGGCACCTTC	0.667000													27	27					1.88708e-17	5.03036e-16	0.000227799	1	0
GGT7	2686	broad.mit.edu	37	20	33444642	33444642	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:33444642G>T	ENST00000336431.5	-	8	1113	c.1069C>A	c.(1069-1071)Ctt>Att	p.L357I		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	357					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TTCTCCACAAGGGCGCTGTAA	0.597000													9	14					3.07112e-06	4.06923e-05	6.40141e-05	1	0
EIF3B	8662	broad.mit.edu	37	7	2418774	2418774	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:2418774G>T	ENST00000360876.4	+	17	2294	c.2238G>T	c.(2236-2238)ttG>ttT	p.L746F	EIF3B_ENST00000397011.2_Missense_Mutation_p.L746F	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	746					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATAGGAATTGGTGGAGAGAA	0.557000													7	14					2.52707e-12	5.24629e-11	0.000442599	1	0
CD163L1	283316	broad.mit.edu	37	12	7548983	7548983	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:7548983C>A	ENST00000313599.3	-	8	1815	c.1758G>T	c.(1756-1758)gtG>gtT	p.V586V	CD163L1_ENST00000396630.1_Silent_p.V586V|CD163L1_ENST00000416109.2_Silent_p.V596V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	586	SRCR 6.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCTGCCGCCCACCAGCCTCA	0.527000													5	13					1.23904e-05	0.000157236	0.000602214	1	0
PIWIL1	9271	broad.mit.edu	37	12	130831091	130831091	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:130831091G>T	ENST00000245255.3	+	5	765	c.493G>T	c.(493-495)Gga>Tga	p.G165*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	165					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGCTTTTGATGGAACGATATT	0.388000													19	26					2.21704e-12	4.62396e-11	0.000375601	1	0
TAB1	10454	broad.mit.edu	37	22	39811105	39811105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:39811105G>A	ENST00000216160.6	+	2	190	c.128G>A	c.(127-129)gGc>gAc	p.G43D	TAB1_ENST00000331454.3_Missense_Mutation_p.G43D	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	43					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GATGGCAAGGGCACTGAGAGC	0.612000													50	116					0	0	0.000781405	0	0
SUPT6H	6830	broad.mit.edu	37	17	27027482	27027482	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:27027482C>A	ENST00000314616.6	+	35	5041	c.4758C>A	c.(4756-4758)tcC>tcA	p.S1586S	SUPT6H_ENST00000347486.4_Silent_p.S1586S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1586					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AGTGGGCCTCCAGCCAGTACG	0.612000													26	62					4.11147e-35	1.61062e-33	0.000692331	1	0
USHBP1	83878	broad.mit.edu	37	19	17373625	17373625	+	Silent	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:17373625C>T	ENST00000252597.3	-	4	551	c.378G>A	c.(376-378)ctG>ctA	p.L126L	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Silent_p.L62L	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	126							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCAGGGAGCTCAGAGTGTGCT	0.652000													20	25					0	0	0.000132079	0	0
SNRPA	6626	broad.mit.edu	37	19	41269491	41269491	+	Splice_Site	SNP	G	G	A	rs112988221		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:41269491G>A	ENST00000243563.3	+	5	1150		c.e5-1			NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A							nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TACCCCCGCAGCTTTCTGAGA	0.542000													8	47					0	0	0.000442599	0	0
NWD1	284434	broad.mit.edu	37	19	16899890	16899890	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:16899890G>T	ENST00000524140.2	+	13	3247	c.2829G>T	c.(2827-2829)caG>caT	p.Q943H	NWD1_ENST00000552788.1_Missense_Mutation_p.Q943H|NWD1_ENST00000549814.1_Missense_Mutation_p.Q943H|NWD1_ENST00000523826.1_Missense_Mutation_p.Q737H|NWD1_ENST00000379808.3_Missense_Mutation_p.Q943H|NWD1_ENST00000339803.6_Missense_Mutation_p.Q808H	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	943							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCTCTGGCCAGGAGAAATTTA	0.473000													27	29					6.32553e-13	1.35055e-11	0.000720815	1	0
GH2	2689	broad.mit.edu	37	17	61958123	61958123	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:61958123C>A	ENST00000332800.7	-	4	598	c.465G>T	c.(463-465)gtG>gtT	p.V155V	GH2_ENST00000423893.2_Intron|GH2_ENST00000456543.2_Intron|GH2_ENST00000449787.2_Intron	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	154						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TCCCTGGTGCCACCCTCACCC	0.597000													28	69					1.74197e-06	2.39256e-05	0.000147802	1	0
TET3	200424	broad.mit.edu	37	2	74275057	74275057	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:74275057C>A	ENST00000409262.3	+	1	1608	c.1608C>A	c.(1606-1608)ccC>ccA	p.P536P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	536							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACCTAGTCCCTCCAGGGACA	0.647000													9	7					0.000274275	0.00316013	0.000274275	1	0
F3	2152	broad.mit.edu	37	1	94997946	94997946	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:94997946G>T	ENST00000334047.7	-	5	845	c.682C>A	c.(682-684)Cga>Aga	p.R228R	F3_ENST00000370207.4_Intron	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	228					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	TTAACTGTTCGGGAGGGAATC	0.463000													19	28					8.34094e-07	1.15975e-05	0.000132079	1	0
RNF20	56254	broad.mit.edu	37	9	104314989	104314989	+	Missense_Mutation	SNP	C	C	T	rs139776458	byFrequency	TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:104314989C>T	ENST00000389120.3	+	13	1945	c.1855C>T	c.(1855-1857)Cgg>Tgg	p.R619W		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	619					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TGATGATGGACGGAAAAAGGA	0.368000													27	25					0	0	0.000227799	0	0
PRSS21	10942	broad.mit.edu	37	16	2868943	2868943	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:2868943G>T	ENST00000455114.1	+	4	623	c.517G>T	c.(517-519)Ggc>Tgc	p.G173C	PRSS21_ENST00000450020.3_Missense_Mutation_p.G175C|PRSS21_ENST00000575739.1_3'UTR|PRSS21_ENST00000005995.3_Missense_Mutation_p.G175C	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	175	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity	p.G175C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						CTGGGTGACTGGCTGGGGGTA	0.557000													16	25					6.49762e-13	1.38074e-11	0.00074312	1	0
MYOC	4653	broad.mit.edu	37	1	171605569	171605569	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:171605569C>A	ENST00000037502.5	-	3	1070	c.1011G>T	c.(1009-1011)caG>caT	p.Q337H		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	337	Olfactomedin-like.		Q -> E (in GLC1A).|Q -> R (in GLC1A).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ACTCAGCGCCCTGGAAATAGA	0.537000													12	78					1.05317e-09	1.88275e-08	0.000219431	1	0
FCGR3B	2215	broad.mit.edu	37	1	161594326	161594326	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:161594326G>T	ENST00000294800.3	-	5	954	c.681C>A	c.(679-681)ttC>ttA	p.F227L	FCGR3B_ENST00000367964.2_Missense_Mutation_p.F227L|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.F263L|FCGR3A_ENST00000540048.1_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	227					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCTTCACAGAGAAATATAGTC	0.463000													87	45					2.78983e-34	1.0742e-32	0.000781405	1	0
CELSR3	1951	broad.mit.edu	37	3	48697877	48697877	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:48697877G>T	ENST00000544264.1	-	1	2471	c.2191C>A	c.(2191-2193)Cat>Aat	p.H731N	CELSR3_ENST00000164024.4_Missense_Mutation_p.H731N			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	731	Cadherin 4.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTGAGCCATGGTCTCGAGCC	0.552000													13	53					6.81908e-15	1.64278e-13	0.000219431	1	0
C1orf112	55732	broad.mit.edu	37	1	169790900	169790900	+	Splice_Site	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:169790900G>T	ENST00000286031.6	+	9	1483	c.783_splice	c.e9+1	p.K261_splice	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000413811.2_Splice_Site_p.K232_splice|C1orf112_ENST00000456684.1_Splice_Site_p.K319_splice|C1orf112_ENST00000359326.4_Splice_Site_p.K261_splice	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	261										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					actacgctaaggtaaggcttt	0.333000													21	60					2.4624e-09	4.21791e-08	0.000132079	1	0
GPR98	84059	broad.mit.edu	37	5	89933721	89933721	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:89933721T>G	ENST00000405460.2	+	11	2292	c.2196T>G	c.(2194-2196)gaT>gaG	p.D732E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	732	Calx-beta 5.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAAAGGTGATGACATACCGG	0.363000													15	39					0	0	0.00074312	0	0
LILRA2	11027	broad.mit.edu	37	19	55086037	55086037	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:55086037C>A	ENST00000251377.3	+	4	473	c.340C>A	c.(340-342)Ctg>Atg	p.L114M	LILRA2_ENST00000391738.3_Missense_Mutation_p.L114M|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.L114M|LILRA2_ENST00000391737.1_Missense_Mutation_p.L102M|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron					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)		CCCCCTGGAGCTGGTGGTGAC	0.602000													6	33					1.26484e-09	2.22583e-08	0.000157383	1	0
RIMS4	140730	broad.mit.edu	37	20	43399954	43399954	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:43399954G>T	ENST00000372851.3	-	2	264	c.198C>A	c.(196-198)tcC>tcA	p.S66S	RIMS4_ENST00000541604.2_Silent_p.S67S	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	66					exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TGTCCTCAATGGACTCGTGGC	0.647000													32	46					8.16721e-17	2.12678e-15	0.000339439	1	0
DNAH9	1770	broad.mit.edu	37	17	11593391	11593391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr17:11593391G>A	ENST00000262442.3	+	20	4320	c.4252G>A	c.(4252-4254)Gat>Aat	p.D1418N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D1418N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1418	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D1418Y(1)		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)		CCACTATGAGGATGAGGTCCG	0.562000													9	5					0	0	0.000274275	0	0
IGSF5	150084	broad.mit.edu	37	21	41165479	41165479	+	Missense_Mutation	SNP	C	C	A	rs148668253		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr21:41165479C>A	ENST00000380588.4	+	8	1170	c.1067C>A	c.(1066-1068)cCc>cAc	p.P356H		NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	356						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TCTCTCCCTCCCAAATCCTGT	0.423000													40	107					3.86236e-30	1.43801e-28	0.000781405	1	0
ACSM3	6296	broad.mit.edu	37	16	20781506	20781506	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:20781506C>A	ENST00000289416.5	+	2	625	c.150C>A	c.(148-150)ttC>ttA	p.F50L	ACSM3_ENST00000440284.2_Missense_Mutation_p.F50L|ACSM3_ENST00000450120.2_Missense_Mutation_p.F5L	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	50					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AACAGGACTTCAAACTGGGGA	0.443000													26	24					7.68411e-24	2.58335e-22	0.000227799	1	0
TUBGCP5	114791	broad.mit.edu	37	15	22864188	22864188	+	Splice_Site	SNP	T	T	C			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:22864188T>C	ENST00000283645.4	+	16	2276	c.2144_splice	c.e16-1	p.L716_splice	TUBGCP5_ENST00000453949.2_Splice_Site_p.L716_splice	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	716					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TCCATTCAGGTTGGTAGAATA	0.363000													22	31					0	0	0.00047179	0	0
TRPC4	7223	broad.mit.edu	37	13	38211448	38211448	+	Silent	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr13:38211448G>A	ENST00000379705.3	-	11	3383	c.2526C>T	c.(2524-2526)atC>atT	p.I842I	TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000338947.5_Silent_p.I669I|TRPC4_ENST00000379679.1_Silent_p.I669I|TRPC4_ENST00000379681.3_Silent_p.I847I|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000426868.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	842	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CAAAGTTTTTGATATCGGTCA	0.428000													21	125					0	0	0.000175454	0	0
DDX10	1662	broad.mit.edu	37	11	108594135	108594135	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:108594135G>T	ENST00000526794.1	+	13	1943	c.1911G>T	c.(1909-1911)aaG>aaT	p.K637N	DDX10_ENST00000322536.3_Missense_Mutation_p.K637N			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	637							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		ATTTCTTGAAGGTGAAGCGGC	0.433000			T	NUP98	AML*								19	23					4.63292e-17	1.21345e-15	0.000132079	1	0
C3orf27	23434	broad.mit.edu	37	3	128292485	128292485	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:128292485G>T	ENST00000356020.2	-	3	1054	c.88C>A	c.(88-90)Cag>Aag	p.Q30K		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	30										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		GGGGGTCCCTGGAGGCGGGAG	0.607000													10	18					2.27111e-07	3.33269e-06	0.00010058	1	0
ALK	238	broad.mit.edu	37	2	29443618	29443618	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:29443618G>A	ENST00000389048.3	-	23	4505	c.3599C>T	c.(3598-3600)gCg>gTg	p.A1200V	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1200	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.A1200V(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTCTCCCCCCGCCATGAGCTC	0.592000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				14	13					0	0	0.000151284	0	0
IGDCC4	57722	broad.mit.edu	37	15	65693168	65693168	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:65693168G>T	ENST00000352385.2	-	5	1026	c.817C>A	c.(817-819)Cct>Act	p.P273T		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	273	Ig-like C2-type 3.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GACACAAAAGGGGTGGGGTCA	0.617000											OREG0023196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	26					2.32078e-09	4.0058e-08	0.000308642	1	0
UFM1	51569	broad.mit.edu	37	13	38924142	38924142	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr13:38924142G>T	ENST00000239878.4	+	2	48	c.9G>T	c.(7-9)aaG>aaT	p.K3N	UFM1_ENST00000379649.1_5'UTR	NM_016617.2	NP_057701.1	P61960	UFM1_HUMAN	ubiquitin-fold modifier 1	3					protein ufmylation	cytoplasm|nucleus	protein binding			lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		TCAGGTCGAAGGTTTCCTTTA	0.577000													36	250					3.33393e-15	8.20731e-14	0.000953801	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84694036	84694036	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr15:84694036G>A	ENST00000286744.5	+	27	4728	c.4504G>A	c.(4504-4506)Gga>Aga	p.G1502R	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G1502R	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1502	TSP type-1 9.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGCGGTGAAGGATACCACAG	0.522000													13	27					0	0	0.000958276	0	0
FOXRED1	55572	broad.mit.edu	37	11	126142894	126142894	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:126142894G>T	ENST00000263578.5	+	3	411	c.337G>T	c.(337-339)Ggt>Tgt	p.G113C	FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000442061.2_5'UTR|FOXRED1_ENST00000532125.1_Missense_Mutation_p.G99C	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	113						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GCTCTCAGTAGGTGGGATTTG	0.463000													34	40					2.66277e-13	5.85159e-12	0.000270559	1	0
TTN	7273	broad.mit.edu	37	2	179633575	179633575	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr2:179633575G>T	ENST00000589042.1	-	38	9212	c.8988C>A	c.(8986-8988)ggC>ggA	p.G2996G	TTN_ENST00000360870.5_Silent_p.G2996G|TTN_ENST00000342992.6_Silent_p.G2996G|TTN_ENST00000460472.2_Silent_p.G2950G|TTN_ENST00000359218.5_Silent_p.G2950G|TTN_ENST00000342175.6_Silent_p.G2950G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.G2996G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2734	Ig-like 17.						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)			TGTAAGAGATGCCTTCATAGT	0.388000													12	32					2.27111e-07	3.33269e-06	0.00010058	1	0
KPRP	448834	broad.mit.edu	37	1	152732929	152732929	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:152732929G>T	ENST00000368773.1	+	2	923	c.865G>T	c.(865-867)Gaa>Taa	p.E289*	KPRP_ENST00000606109.1_Nonsense_Mutation_p.E289*	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	289	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGACCCTCTGAAGGTTTCCC	0.597000													19	61					9.7654e-05	0.00117629	0.000958276	1	0
SUGP2	10147	broad.mit.edu	37	19	19106039	19106039	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:19106039C>A	ENST00000601879.1	-	9	3339	c.3042G>T	c.(3040-3042)ctG>ctT	p.L1014L	SUGP2_ENST00000600377.1_Silent_p.L1028L|SUGP2_ENST00000456085.2_Silent_p.L783L|SUGP2_ENST00000337018.6_Silent_p.L1014L|SUGP2_ENST00000452918.2_Silent_p.L1014L			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	1014	G-patch.				mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCTGGAAGCCCAGGTTCTTAT	0.612000													5	19					5.9392e-07	8.44041e-06	3.59834e-05	1	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													5	100					0	0	0.000602214	0	0
C6orf15	29113	broad.mit.edu	37	6	31079834	31079834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr6:31079834G>A	ENST00000259870.3	-	2	305	c.302C>T	c.(301-303)tCg>tTg	p.S101L		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	101										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CAGCCCCCACGATGGAGGCCA	0.617000													23	44					0	0	0.000229342	0	0
FRAS1	80144	broad.mit.edu	37	4	79418010	79418010	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr4:79418010G>A	ENST00000264895.6	+	60	9450	c.9010G>A	c.(9010-9012)Gaa>Aaa	p.E3004K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2999	Calx-beta 4.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGAGCCAGAGGAACAGTTCAG	0.448000													121	88					0	0	0.000781405	0	0
NUP205	23165	broad.mit.edu	37	7	135302386	135302386	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:135302386C>A	ENST00000285968.6	+	27	3753	c.3727C>A	c.(3727-3729)Ctt>Att	p.L1243I		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1243					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGTAAATGCCCTTCAGGGTAT	0.398000													18	30					3.5997e-14	8.2738e-13	0.000295444	1	0
CTSS	1520	broad.mit.edu	37	1	150720281	150720281	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:150720281C>A	ENST00000368985.3	-	7	1128	c.868G>T	c.(868-870)Ggg>Tgg	p.G290W	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Missense_Mutation_p.G240W	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	290					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TATTCTTTCCCATTAAGATCA	0.358000													82	49					1.55521e-42	6.20019e-41	0.000781405	1	0
CERK	64781	broad.mit.edu	37	22	47086075	47086075	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr22:47086075A>G	ENST00000216264.8	-	12	1467	c.1355T>C	c.(1354-1356)gTt>gCt	p.V452A	CERK_ENST00000471929.1_5'UTR|CERK_ENST00000541677.1_Missense_Mutation_p.V254A	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	452					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GACGCGATAAACTTCAACAAA	0.517000													23	310					0	0	0.00047179	0	0
DMRTA1	63951	broad.mit.edu	37	9	22447217	22447217	+	Silent	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:22447217C>A	ENST00000325870.1	+	1	378	c.153C>A	c.(151-153)ccC>ccA	p.P51P		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	51					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		TGCGGCCGCCCAGCCTCTTTC	0.766000													4	14					0.000602214	0.00683369	0.000602214	1	0
TCERG1L	256536	broad.mit.edu	37	10	133106588	133106588	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr10:133106588G>T	ENST00000368642.4	-	3	641	c.556C>A	c.(556-558)Cat>Aat	p.H186N		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	186										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TCATGCCCATGGAAAAACCTT	0.493000													16	41					1.99824e-07	2.97097e-06	0.000566183	1	0
PCK2	5106	broad.mit.edu	37	14	24568320	24568320	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr14:24568320C>A	ENST00000545054.2	+	5	1243	c.325C>A	c.(325-327)Cag>Aag	p.Q109K	PCK2_ENST00000559250.1_Missense_Mutation_p.Q255K|PCK2_ENST00000396973.4_Missense_Mutation_p.Q243K|PCK2_ENST00000216780.4_Missense_Mutation_p.Q243K|PCK2_ENST00000561286.1_Missense_Mutation_p.Q109K|NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_Missense_Mutation_p.Q109K			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	243					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CGTGCCCGACCAGCGGGAGAT	0.642000													10	36					2.74318e-10	5.06476e-09	0.000442599	1	0
MECOM	2122	broad.mit.edu	37	3	168834350	168834350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:168834350C>T	ENST00000464456.1	-	7	1946	c.746G>A	c.(745-747)gGa>gAa	p.G249E	MECOM_ENST00000460814.1_Missense_Mutation_p.G249E|MECOM_ENST00000472280.1_Missense_Mutation_p.G250E|MECOM_ENST00000494292.1_Missense_Mutation_p.G437E|MECOM_ENST00000264674.3_Missense_Mutation_p.G314E|MECOM_ENST00000468789.1_Missense_Mutation_p.G249E|MECOM_ENST00000433243.2_Missense_Mutation_p.G250E|MECOM_ENST00000392736.3_Missense_Mutation_p.G249E	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						GCCAAAAAATCCACCTGCCGC	0.448000													24	72					0	0	0.000720815	0	0
EXOSC7	23016	broad.mit.edu	37	3	45052801	45052801	+	Silent	SNP	C	C	A	rs140279197		TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:45052801C>A	ENST00000265564.7	+	8	894	c.846C>A	c.(844-846)ccC>ccA	p.P282P	EXOSC7_ENST00000461361.1_3'UTR|CLEC3B_ENST00000490386.1_Intron	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	282					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		GCCTGGGGCCCAAGAGACAGA	0.473000													20	18					1.66031e-10	3.1036e-09	0.000586117	1	0
KCNJ1	3758	broad.mit.edu	37	11	128709265	128709265	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:128709265G>T	ENST00000392665.2	-	2	1018	c.874C>A	c.(874-876)Cgg>Agg	p.R292R	KCNJ1_ENST00000392666.1_Silent_p.R292R|KCNJ1_ENST00000324036.3_Silent_p.R292R|KCNJ1_ENST00000392664.2_Silent_p.R311R|KCNJ1_ENST00000440599.2_Silent_p.R292R	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	311					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	TAGGATGTCCGGACTTGGCAG	0.498000													11	29					4.68919e-08	7.28294e-07	0.000673444	1	0
ITGA7	3679	broad.mit.edu	37	12	56094079	56094079	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:56094079G>T	ENST00000257880.7	-	5	988	c.769C>A	c.(769-771)Cgc>Agc	p.R257S	ITGA7_ENST00000555728.1_Missense_Mutation_p.R257S|ITGA7_ENST00000452168.2_Missense_Mutation_p.R160S|ITGA7_ENST00000394230.2_Missense_Mutation_p.R257S|ITGA7_ENST00000257879.6_Intron|ITGA7_ENST00000394229.2_Intron|ITGA7_ENST00000553804.1_Missense_Mutation_p.R257S|ITGA7_ENST00000347027.6_Intron			Q13683	ITA7_HUMAN	integrin, alpha 7	257					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGGATGAGGCGGGGGTCCTGC	0.652000													8	10					0.000274275	0.00316013	0.000274275	1	0
MAN1B1	11253	broad.mit.edu	37	9	140000631	140000631	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr9:140000631G>T	ENST00000371589.4	+	9	1382	c.1309G>T	c.(1309-1311)Ggg>Tgg	p.G437W	MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Missense_Mutation_p.G140W	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	437					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GAAGAAGGATGGGCTGGTGCC	0.607000													9	13					3.86212e-05	0.00047799	0.000673444	1	0
ALG3	10195	broad.mit.edu	37	3	183966536	183966536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:183966536C>T	ENST00000397676.3	-	1	223	c.193G>A	c.(193-195)Gca>Aca	p.A65T	ALG3_ENST00000445626.2_Intron|ALG3_ENST00000418734.2_Missense_Mutation_p.G42D|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000455059.1_Intron	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	65					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACTCACATGCCACCCTGTGA	0.662000													11	25					0	0	6.40141e-05	0	0
SLC39A14	23516	broad.mit.edu	37	8	22265865	22265865	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:22265865G>T	ENST00000359741.5	+	3	488	c.313G>T	c.(313-315)Gag>Tag	p.E105*	SLC39A14_ENST00000240095.6_Nonsense_Mutation_p.E105*|SLC39A14_ENST00000381237.1_Nonsense_Mutation_p.E105*|SLC39A14_ENST00000289952.5_Nonsense_Mutation_p.E105*	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	105						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CAATTTCAGCGAGCAGTCGCG	0.592000													24	41					1.42536e-11	2.79184e-10	0.000720815	1	0
RP11-252A24.2	0	broad.mit.edu	37	16	74382776	74382776	+	RNA	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:74382776C>A	ENST00000429810.2	-	0	1074																											AAAGTGATCCCAGTCCCCTGT	0.408000													7	7					5.4927e-09	9.19875e-08	0.000274275	1	0
PCDHB4	56131	broad.mit.edu	37	5	140503919	140503919	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:140503919G>T	ENST00000194152.1	+	1	2339	c.2339G>T	c.(2338-2340)aGg>aTg	p.R780M		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		780					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)			GACACCGGGAGGGAAGTTAAG	0.448000													23	29					1.55469e-16	3.957e-15	0.00047179	1	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066631	46066631	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr21:46066631C>A	ENST00000334670.8	+	1	301	c.256C>A	c.(256-258)Cag>Aag	p.Q86K	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	86	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						GTCTAGCTGCCAGCCGGCTTG	0.662000													25	46					8.24728e-16	2.06411e-14	0.000720815	1	0
PRR23C	389152	broad.mit.edu	37	3	138762971	138762971	+	Silent	SNP	C	C	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr3:138762971C>T	ENST00000413199.1	-	1	763	c.492G>A	c.(490-492)ccG>ccA	p.P164P	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Silent_p.P164P	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	164										breast(2)|lung(7)|skin(2)	11						TCCAGAGCTCCGGGAACTCAG	0.657000													4	4					0	0	0.000602214	0	0
LRP1	4035	broad.mit.edu	37	12	57566963	57566963	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:57566963C>A	ENST00000243077.3	+	21	3642	c.3176C>A	c.(3175-3177)cCt>cAt	p.P1059H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1059					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)	ACGAGGCCCCCTGGTGGCTGC	0.672000											OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	16					1.61879e-10	3.03861e-09	0.00010058	1	0
CCDC78	124093	broad.mit.edu	37	16	773117	773117	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:773117C>A	ENST00000293889.6	-	12	1283	c.1178G>T	c.(1177-1179)cGg>cTg	p.R393L		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	393								p.R393Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GGAGAAGTCCCGGAGCTTCTG	0.642000													4	24					0.000602214	0.00683369	0.000602214	1	0
CNGB3	54714	broad.mit.edu	37	8	87738864	87738864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:87738864G>A	ENST00000320005.5	-	3	280	c.233C>T	c.(232-234)tCc>tTc	p.S78F	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	78					signal transduction|visual perception	integral to membrane	cGMP binding	p.S78F(1)		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						ATCTCCAGAGGAATTTTTCTT	0.428000													73	142					0	0	0.000781405	0	0
FAF1	11124	broad.mit.edu	37	1	51323654	51323654	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:51323654C>A	ENST00000396153.2	-	2	512	c.61G>T	c.(61-63)Gaa>Taa	p.E21*	FAF1_ENST00000371778.4_Nonsense_Mutation_p.E21*	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	21					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(5)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TCAATGTTTTCAATGCCAGTA	0.279000													19	32					7.45023e-12	1.50508e-10	0.000175454	1	0
KANSL2	54934	broad.mit.edu	37	12	49061513	49061513	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr12:49061513G>T	ENST00000550347.1	-	6	1528	c.1485C>A	c.(1483-1485)tcC>tcA	p.S495S	KANSL2_ENST00000420613.2_Silent_p.S312S|KANSL2_ENST00000553086.1_Silent_p.S312S|KANSL2_ENST00000357861.3_Silent_p.S117S			Q9H9L4	CL041_HUMAN	KAT8 regulatory NSL complex subunit 2	312																	GAGACTGATTGGAACAACGAA	0.443000													39	54					2.47872e-24	8.39598e-23	0.000509022	1	0
ELN	2006	broad.mit.edu	37	7	73452041	73452041	+	Silent	SNP	G	G	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr7:73452041G>T	ENST00000252034.7	+	4	567	c.168G>T	c.(166-168)ctG>ctT	p.L56L	ELN_ENST00000358929.4_Silent_p.L56L|ELN_ENST00000357036.5_Silent_p.L56L|ELN_ENST00000429192.1_Silent_p.L56L|ELN_ENST00000380576.5_Silent_p.L56L|ELN_ENST00000458204.1_Silent_p.L46L|ELN_ENST00000445912.1_Silent_p.L56L|ELN_ENST00000380584.4_Silent_p.L56L|ELN_ENST00000414324.1_Silent_p.L46L|ELN_ENST00000320399.6_Silent_p.L56L|ELN_ENST00000380562.4_Silent_p.L56L|ELN_ENST00000380575.4_Silent_p.L46L|ELN_ENST00000380553.4_Silent_p.L56L|ELN_ENST00000320492.7_Silent_p.L56L	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	56					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTGCAGCGCTGGGGCCTGGAG	0.592000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						10	14					6.40141e-05	0.000783651	6.40141e-05	1	0
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr1:155886422_155886423delCT	ENST00000368320.3	-	12	1571_1572	c.1546_1547delAG	c.(1546-1548)gfs	p.R516fs	KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs			Q7Z7F0	K0907_HUMAN	KIAA0907	516								p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396													7	404	---	---	---	---					
AP3B1	8546	broad.mit.edu	37	5	77536740	77536741	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr5:77536740_77536741insT	ENST00000255194.6	-	3	399_400	c.224_225insA	c.(223-225)agcfs	p.S75fs	AP3B1_ENST00000519295.1_Frame_Shift_Ins_p.S26fs	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	75					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GTTCAGATGCATTTTTCCCTTT	0.297									Hermansky-Pudlak syndrome				93	123	---	---	---	---					
MATN2	4147	broad.mit.edu	37	8	99028877	99028877	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr8:99028877delA	ENST00000254898.5	+	11	1914	c.1683delA	c.(1681-1683)ggfs	p.G561fs	MATN2_ENST00000524308.1_Frame_Shift_Del_p.G520fs|MATN2_ENST00000522025.2_Frame_Shift_Del_p.G277fs|MATN2_ENST00000521689.1_Frame_Shift_Del_p.G561fs|MATN2_ENST00000520016.1_Frame_Shift_Del_p.G561fs	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	561	EGF-like 8.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GTGAAGATGGAAAAACCTGCA	0.453													3	4	---	---	---	---					
ANO1	55107	broad.mit.edu	37	11	69934084	69934084	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr11:69934084delC	ENST00000355303.5	+	2	640	c.335delC	c.(334-336)tgfs	p.S112fs	ANO1_ENST00000398543.2_5'UTR|ANO1_ENST00000316296.5_Frame_Shift_Del_p.S84fs|ANO1_ENST00000538023.1_Frame_Shift_Del_p.S112fs|ANO1_ENST00000530676.1_5'UTR	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	112					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GATGCAGGCTCGGGGGAGCCC	0.701													2	4	---	---	---	---					
LOC101060604	101060604	broad.mit.edu	37	16	21469994	21469994	+	RNA	DEL	A	A	-			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr16:21469994delA	ENST00000520823.2	-	0	749																											ACTGTACATTAAAAAAAAAAA	0.294													2	4	---	---	---	---					
SYMPK	8189	broad.mit.edu	37	19	46330795	46330797	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EE-A184-06A-11D-A196-08	TCGA-EE-A184-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d1833d8-7e02-4331-97b7-6e2fb956975f	a40649f4-7c99-409c-9951-3121476deb04	g.chr19:46330795_46330797delGAG	ENST00000245934.7	-	16	2396_2398	c.2152_2154delCTC	c.(2152-2154)del	p.L718del		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	718					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGCTGAGGTCGAGGAGGACATGC	0.581													8	33	---	---	---	---