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
RNF213	57674	broad.mit.edu	37	17	78321620	78321620	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:78321620C>T	ENST00000582970.1	+	29	9628	c.9485C>T	c.(9484-9486)cCc>cTc	p.P3162L	RNF213_ENST00000508628.2_Missense_Mutation_p.P3211L|RNF213_ENST00000336301.6_Missense_Mutation_p.P1235L	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)			AAACACTTTCCCATCCCCCTC	0.547000													7	61					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125963	12125963	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr6:12125963G>T	ENST00000379388.2	+	4	6267	c.5935G>T	c.(5935-5937)Ggt>Tgt	p.G1979C		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1979					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAATCCACTCGGTTTGCCCAC	0.418000													60	55					6.176e-18	9.14695e-18	1	1	0
CRHR1	1394	broad.mit.edu	37	17	43912021	43912021	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:43912021G>T	ENST00000314537.5	+	13	1364	c.1139G>T	c.(1138-1140)cGg>cTg	p.R380L	CRHR1_ENST00000339069.5_Missense_Mutation_p.G234C|CRHR1_ENST00000293493.7_Missense_Mutation_p.R205L|CRHR1_ENST00000577353.1_Missense_Mutation_p.R366L|CRHR1_ENST00000352855.5_Missense_Mutation_p.R340L|CRHR1_ENST00000398285.3_Missense_Mutation_p.R409L	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	409					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		AGGTGGCACCGGTGGCAGGAC	0.657000													13	37					0.0167234	0.0172322	1	1	0
HRNR	388697	broad.mit.edu	37	1	152192519	152192519	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:152192519C>A	ENST00000368801.2	-	3	1661	c.1586G>T	c.(1585-1587)gGa>gTa	p.G529V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	529					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCGGCTGTGTCCCAAAGATTG	0.567000													20	410					1.15919e-05	1.31151e-05	1	1	0
C7orf33	202865	broad.mit.edu	37	7	148288075	148288075	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:148288075C>A	ENST00000307003.2	+	1	419	c.58C>A	c.(58-60)Ccc>Acc	p.P20T		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	20										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACTTCCAGGCCCCCAATGTGA	0.562000													11	61					2.80697e-09	3.60087e-09	1	1	0
ITGB6	3694	broad.mit.edu	37	2	160964351	160964351	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:160964351G>A	ENST00000283249.2	-	14	2344	c.2107C>T	c.(2107-2109)Ccg>Tcg	p.P703S	ITGB6_ENST00000428609.2_Missense_Mutation_p.P661S|ITGB6_ENST00000409967.2_Missense_Mutation_p.P596S|ITGB6_ENST00000409872.1_Missense_Mutation_p.P703S			P18564	ITB6_HUMAN	integrin, beta 6	703					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GGAGGCTTCGGACAATCTGCA	0.403000													10	56					0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47360146	47360146	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:47360146C>T	ENST00000399249.2	-	22	2287	c.2233G>A	c.(2233-2235)Gat>Aat	p.D745N	MYBPC3_ENST00000256993.4_Missense_Mutation_p.D744N|MYBPC3_ENST00000545968.1_Missense_Mutation_p.D745N			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	744	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		ACGCCCTCATCTTCCTTCTCT	0.647000													13	25					0	0	1	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55246763	55246763	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:55246763C>A	ENST00000291860.1	+	6	1011	c.993C>A	c.(991-993)gtC>gtA	p.V331V	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	331						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CCTCAGTGGTCATCATCCCCT	0.478000													39	80					1.61572e-30	2.58924e-30	1	1	0
RPTN	126638	broad.mit.edu	37	1	152127445	152127445	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:152127445G>T	ENST00000316073.3	-	3	2194	c.2130C>A	c.(2128-2130)ggC>ggA	p.G710G		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	710	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AAGTTTGATGGCCCTGCTCTT	0.567000													194	196					4.35673e-71	7.23273e-71	1	1	0
CDH26	60437	broad.mit.edu	37	20	58571591	58571591	+	Translation_Start_Site	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr20:58571591A>T	ENST00000350849.6	+	0	163				CDH26_ENST00000244047.5_Intron|CDH26_ENST00000497614.1_Intron|CDH26_ENST00000244049.3_De_novo_Start_OutOfFrame|CDH26_ENST00000348616.4_Intron	NM_021810.4	NP_068582.2	Q8IXH8	CAD26_HUMAN	cadherin 26						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)			ttgccAGTTCATGACTGAGTT	0.408000													17	117					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612644	20612644	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr14:20612644G>T	ENST00000333629.1	+	1	750	c.750G>T	c.(748-750)atG>atT	p.M250I		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TATTTCTCATGTTTGGACCTG	0.438000													140	201					9.15414e-77	1.52469e-76	1	1	0
CLCN6	1185	broad.mit.edu	37	1	11866328	11866328	+	Silent	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:11866328G>A	ENST00000346436.6	+	1	61	c.9G>A	c.(7-9)ggG>ggA	p.G3G	CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Silent_p.G3G|CLCN6_ENST00000376497.3_Silent_p.G3G|CLCN6_ENST00000312413.6_Silent_p.G3G|CLCN6_ENST00000376487.3_Silent_p.G3G	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	3					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGGCGGGGTGCAGGGGGT	0.677000													3	19					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58471883	58471883	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr14:58471883C>A	ENST00000267485.7	-	7	2333	c.2139G>T	c.(2137-2139)ggG>ggT	p.G713G		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	713						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GCACCAGCATCCCAGACATGT	0.517000													13	60					9.05144e-12	1.20056e-11	1	1	0
OR6K6	128371	broad.mit.edu	37	1	158724731	158724731	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:158724731C>G	ENST00000368144.2	+	1	222	c.126C>G	c.(124-126)ttC>ttG	p.F42L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					AGTTCCTCTTCTCTATGTTCC	0.428000													17	238					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158627350	158627350	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:158627350G>T	ENST00000368148.3	-	19	2902	c.2722C>A	c.(2722-2724)Ctg>Atg	p.L908M	SPTA1_ENST00000368147.3_Missense_Mutation_p.L908M	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	908					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.L908M(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTTCATGCAGGTCAGCCAGG	0.483000													25	246					1.55469e-16	2.26299e-16	1	1	0
ITGB6	3694	broad.mit.edu	37	2	160964353	160964353	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:160964353C>A	ENST00000283249.2	-	14	2342	c.2105G>T	c.(2104-2106)tGt>tTt	p.C702F	ITGB6_ENST00000428609.2_Missense_Mutation_p.C660F|ITGB6_ENST00000409967.2_Missense_Mutation_p.C595F|ITGB6_ENST00000409872.1_Missense_Mutation_p.C702F			P18564	ITB6_HUMAN	integrin, beta 6	702					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AGGCTTCGGACAATCTGCAGA	0.413000													10	55					2.74318e-10	3.58235e-10	1	1	0
NLGN4X	57502	broad.mit.edu	37	X	5821840	5821840	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chrX:5821840C>A	ENST00000381095.3	-	5	1506	c.879G>T	c.(877-879)ccG>ccT	p.P293P	NLGN4X_ENST00000381092.1_Silent_p.P293P|NLGN4X_ENST00000275857.6_Silent_p.P293P|NLGN4X_ENST00000538097.1_Silent_p.P293P|NLGN4X_ENST00000381093.2_Silent_p.P313P	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	293					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGTACTTGGCCGGCTGGTAGT	0.542000													12	29					1.08611e-07	1.30128e-07	1	1	0
KIAA2018	205717	broad.mit.edu	37	3	113374705	113374705	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr3:113374705T>A	ENST00000316407.4	-	7	6234	c.5824A>T	c.(5824-5826)Aac>Tac	p.N1942Y	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.N1942Y	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1942					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CCATGCATGTTGGTTGTGACT	0.502000													5	57					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31534710	31534710	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr22:31534710T>A	ENST00000215885.3	-	2	842	c.590A>T	c.(589-591)aAc>aTc	p.N197I		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	197	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GATGCCATAGTTGTACTGCAA	0.607000													60	52					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100523444	100523444	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr8:100523444G>C	ENST00000358544.2	+	29	4523	c.4412G>C	c.(4411-4413)cGa>cCa	p.R1471P	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.R1446P	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1471					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGAAATGAGCGAAGAAGTTTT	0.373000													33	117					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974768	20974768	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr16:20974768G>A	ENST00000261383.3	-	53	10437	c.10438C>T	c.(10438-10440)Cgg>Tgg	p.R3480W	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3480					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGTCAGGCCGCAAACATCGA	0.522000													4	34					0	0	1	0	0
NAT1	9	broad.mit.edu	37	8	18080399	18080399	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr8:18080399C>A	ENST00000539092.1	+	5	1534	c.843C>A	c.(841-843)ccC>ccA	p.P281P	NAT1_ENST00000535084.1_Silent_p.P281P|NAT1_ENST00000545197.1_Silent_p.P343P|NAT1_ENST00000541942.1_Silent_p.P281P|NAT1_ENST00000520546.1_Silent_p.P281P|NAT1_ENST00000518029.1_Silent_p.P281P|NAT1_ENST00000517492.1_Silent_p.P281P|NAT1_ENST00000307719.4_Silent_p.P281P	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	281					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		AGCTTGTGCCCAAACATGGTG	0.333000													8	24					1.12685e-05	1.27777e-05	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70504893	70504893	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:70504893C>G	ENST00000310961.5	+	22	3705	c.3287C>G	c.(3286-3288)cCa>cGa	p.P1096R	LRRC7_ENST00000035383.5_Missense_Mutation_p.P1091R|LRRC7_ENST00000415775.2_Missense_Mutation_p.P375R			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1091						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTTTCTCAGCCATCTGTGAAT	0.532000													42	72					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	T	rs121913530		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:25398285C>T	ENST00000311936.3	-	2	225	c.34G>A	c.(34-36)Ggt>Agt	p.G12S	KRAS_ENST00000556131.1_Missense_Mutation_p.G12S|KRAS_ENST00000256078.4_Missense_Mutation_p.G12S|KRAS_ENST00000557334.1_Missense_Mutation_p.G12S	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			19	11					0	0	1	0	0
WWOX	51741	broad.mit.edu	37	16	78198109	78198109	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr16:78198109C>T	ENST00000566780.1	+	5	805	c.439C>T	c.(439-441)Cat>Tat	p.H147Y	WWOX_ENST00000565791.1_3'UTR|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000355860.3_Missense_Mutation_p.H147Y|WWOX_ENST00000406884.2_Missense_Mutation_p.H147Y|WWOX_ENST00000408984.3_Missense_Mutation_p.H147Y	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	147	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTTTGCCCTCCATGGTGCACA	0.443000													11	15					0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36430711	36430711	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:36430711C>T	ENST00000588831.1	+	3	1438	c.384C>T	c.(382-384)cgC>cgT	p.R128R	LRFN3_ENST00000246529.3_Silent_p.R128R			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	128					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCAGCTGCGCGGCCTGGTCA	0.706000													5	38					0	0	1	0	0
MOK	5891	broad.mit.edu	37	14	102717268	102717268	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr14:102717268C>A	ENST00000361847.2	-	7	702	c.471G>T	c.(469-471)ccG>ccT	p.P157P	MOK_ENST00000524214.1_Silent_p.P127P|MOK_ENST00000522874.1_Silent_p.P156P|MOK_ENST00000193029.6_5'UTR	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	157	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding										ATTCCGTGTACGGCTGCTTGG	0.552000													9	124					6.40141e-05	7.1314e-05	1	1	0
EEF1A2	1917	broad.mit.edu	37	20	62126415	62126415	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr20:62126415C>A	ENST00000217182.3	-	4	529	c.364G>T	c.(364-366)Gag>Tag	p.E122*	EEF1A2_ENST00000298049.7_Nonsense_Mutation_p.E122*	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	122						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GCCTCGAACTCGCCCACGCCC	0.682000													12	79					6.53275e-17	9.53632e-17	1	1	0
MAP4	4134	broad.mit.edu	37	3	47957762	47957762	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr3:47957762C>A	ENST00000426837.2	-	8	1693	c.1606G>T	c.(1606-1608)Gat>Tat	p.D536Y	MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Missense_Mutation_p.D519Y|MAP4_ENST00000395734.3_Missense_Mutation_p.D519Y			P27816	MAP4_HUMAN	microtubule-associated protein 4	519	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GGAGTCACATCCTTGCCCAGA	0.517000													15	89					1.05317e-09	1.36831e-09	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134072556	134072556	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr4:134072556C>A	ENST00000264360.4	+	1	2087	c.1261C>A	c.(1261-1263)Ctg>Atg	p.L421M		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	421	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGAAGCCCCCCTGGACCGAGA	0.592000													41	183					2.64894e-19	3.99306e-19	1	1	0
OR4C15	81309	broad.mit.edu	37	11	55322292	55322292	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:55322292C>T	ENST00000314644.2	+	1	510	c.510C>T	c.(508-510)gcC>gcT	p.A170A		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCCTCACAGCCATGGCCTATG	0.493000										HNSCC(20;0.049)			8	131					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585212	82585212	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:82585212T>C	ENST00000423517.2	-	5	5394	c.5057A>G	c.(5056-5058)cAg>cGg	p.Q1686R	PCLO_ENST00000333891.8_Missense_Mutation_p.Q1686R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1617					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						TGTTTTTTTCTGTGATGACTC	0.418000													19	53					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43373130	43373130	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:43373130C>T	ENST00000244296.2	-	4	903	c.766G>A	c.(766-768)Gat>Aat	p.D256N	PSG1_ENST00000312439.6_Missense_Mutation_p.D256N|PSG1_ENST00000436291.2_Missense_Mutation_p.D256N|PSG1_ENST00000403380.3_Missense_Mutation_p.D163N|PSG1_ENST00000595356.1_Missense_Mutation_p.D256N|PSG1_ENST00000595124.1_Missense_Mutation_p.D163N	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TTTAAGACATCCTTATTCTCC	0.493000													14	280					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771910	143771910	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:143771910G>T	ENST00000408898.2	+	1	636	c.598G>T	c.(598-600)Gca>Tca	p.A200S		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					AATGGTTTTGGCAGGGGCAGT	0.443000													26	165					1.64293e-13	2.24358e-13	1	1	0
NEK4	6787	broad.mit.edu	37	3	52800267	52800267	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr3:52800267A>G	ENST00000233027.5	-	3	687	c.485T>C	c.(484-486)aTg>aCg	p.M162T	NEK4_ENST00000383721.4_Missense_Mutation_p.M162T|NEK4_ENST00000535191.1_Missense_Mutation_p.M73T	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	162	Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		GGTGCTAGCCATGTCACAGTG	0.448000													24	32					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55922555	55922555	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr6:55922555C>A	ENST00000244728.5	-	30	3171	c.2774G>T	c.(2773-2775)gGa>gTa	p.G925V	COL21A1_ENST00000370808.2_Missense_Mutation_p.G291V|COL21A1_ENST00000535941.1_Missense_Mutation_p.G925V|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Missense_Mutation_p.G922V	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	925					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCCTTGGATTCCAGGTTTTCC	0.517000													7	10					0.00198382	0.00208219	1	1	0
SLC26A3	1811	broad.mit.edu	37	7	107431532	107431532	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:107431532C>A	ENST00000340010.5	-	5	715	c.531G>T	c.(529-531)gcG>gcT	p.A177A	SLC26A3_ENST00000422236.2_Silent_p.A142A	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	177					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATGCCGCCGCCGCCACCCTCA	0.483000													16	21					4.7546e-09	6.05348e-09	1	1	0
SPDL1	54908	broad.mit.edu	37	5	169015423	169015423	+	Translation_Start_Site	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:169015423G>T	ENST00000265295.4	+	2	282	c.3G>T	c.(1-3)atG>atT	p.M1I	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		AAAAGAACATGGAGGCAGATA	0.343000													8	34					0.00448238	0.00467567	1	1	0
KRTAP1-5	83895	broad.mit.edu	37	17	39182995	39182995	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:39182995C>A	ENST00000361883.5	-	1	459	c.413G>T	c.(412-414)tGc>tTc	p.C138F		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	138	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGGGGCGTGCAGCTCACCAC	0.667000													5	44					0.014758	0.0152379	1	1	0
PRIM2	5558	broad.mit.edu	37	6	57246828	57246828	+	Splice_Site	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr6:57246828G>T	ENST00000607273.1	+	7	642		c.e7-1		PRIM2_ENST00000389488.2_Splice_Site	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TCTTAATTCAGATCCCTTTTG	0.363000													5	43					3.59834e-05	4.02633e-05	1	1	0
ITGB2	3689	broad.mit.edu	37	21	46323351	46323351	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr21:46323351A>G	ENST00000397850.2	-	6	880	c.428T>C	c.(427-429)cTc>cCc	p.L143P	ITGB2_ENST00000397854.3_Intron|ITGB2_ENST00000355153.4_Missense_Mutation_p.L143P|ITGB2_ENST00000397857.1_Missense_Mutation_p.L143P|ITGB2_ENST00000302347.5_Missense_Mutation_p.L143P|ITGB2_ENST00000397852.1_Missense_Mutation_p.L143P			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	143	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GACATTCCTGAGGTCATCAAG	0.607000													6	81					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125547612	125547612	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:125547612C>G	ENST00000431078.1	+	18	3247	c.2883C>G	c.(2881-2883)agC>agG	p.S961R		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	961	EGF-like 2.			PGHCSS -> SIKKLK (in Ref. 4; BAB71205).	cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCCACTGCAGCAGCTACGGCA	0.547000													17	30					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595447	55595447	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:55595447C>T	ENST00000378397.1	+	1	753	c.753C>T	c.(751-753)tcC>tcT	p.S251S		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCACTGTCTCCCATGGAACAA	0.498000										HNSCC(27;0.073)			18	78					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559961	140559961	+	Silent	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:140559961A>T	ENST00000239444.2	+	1	2591	c.2346A>T	c.(2344-2346)ccA>ccT	p.P782P		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		782					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTTGGGCCAGAAATGGAAC	0.378000													38	38					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133759423	133759423	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:133759423C>A	ENST00000318560.5	+	11	2127	c.1746C>A	c.(1744-1746)ggC>ggA	p.G582G		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	582					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CCCCGGAGGGCGGCCTGAATG	0.557000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								50	129					5.7616e-29	9.20407e-29	1	1	0
OR10G3	26533	broad.mit.edu	37	14	22037988	22037988	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr14:22037988C>T	ENST00000303532.1	-	1	887	c.888G>A	c.(886-888)gtG>gtA	p.V296V		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GGGCCAGCTTCACCTCTTGGT	0.522000													12	55					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187708	37187708	+	RNA	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:37187708G>T	ENST00000425901.2	+	0	1550					NR_033753.2																						CAGCGTTACAGCTCAACCTTT	0.498000													46	137					6.61955e-31	1.06753e-30	1	1	0
MYT1L	23040	broad.mit.edu	37	2	1890352	1890352	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:1890352T>G	ENST00000399161.2	-	18	3417	c.2670A>C	c.(2668-2670)aaA>aaC	p.K890N	MYT1L_ENST00000428368.2_Missense_Mutation_p.K888N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	890					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTCGAATGCTTTTGTCCGCCA	0.458000													6	39					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98015199	98015199	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:98015199C>A	ENST00000370192.3	-	12	1541	c.1441G>T	c.(1441-1443)Gat>Tat	p.D481Y		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	481					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CCAACGACATCACCACCTGCA	0.428000													23	78					1.10513e-12	1.49709e-12	1	1	0
COL21A1	81578	broad.mit.edu	37	6	55922556	55922556	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr6:55922556C>A	ENST00000244728.5	-	30	3170	c.2773G>T	c.(2773-2775)Gga>Tga	p.G925*	COL21A1_ENST00000370808.2_Nonsense_Mutation_p.G291*|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.G925*|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Nonsense_Mutation_p.G922*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	925					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCTTGGATTCCAGGTTTTCCA	0.512000													6	9					0.0215528	0.0220298	1	1	0
GLRA2	2742	broad.mit.edu	37	X	14625333	14625333	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chrX:14625333C>A	ENST00000218075.4	+	6	1188	c.658C>A	c.(658-660)Cag>Aag	p.Q220K	GLRA2_ENST00000355020.4_Missense_Mutation_p.Q220K|GLRA2_ENST00000443437.2_Missense_Mutation_p.Q131K	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	220					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	GACCCTGCCCCAGTTTATTTT	0.388000													44	41					2.26627e-22	3.53149e-22	1	1	0
OR6F1	343169	broad.mit.edu	37	1	247875588	247875588	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:247875588G>C	ENST00000302084.2	-	1	517	c.470C>G	c.(469-471)gCa>gGa	p.A157G	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGTGGGCACTGCAATGGCCAC	0.597000													29	83					0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180419848	180419848	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:180419848C>A	ENST00000342868.6	+	2	269	c.85C>A	c.(85-87)Cag>Aag	p.Q29K		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	29					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CAAGTTTGTCCAGGCCTTGGT	0.542000													36	57					6.97489e-18	1.02703e-17	1	1	0
RPL3L	6123	broad.mit.edu	37	16	1994846	1994846	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr16:1994846C>A	ENST00000268661.7	-	10	1310	c.1216G>T	c.(1216-1218)Gac>Tac	p.D406Y		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	406					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCTACAAGTCTCCCGAGGTC	0.592000													34	127					4.14481e-20	6.26656e-20	1	1	0
PRRC2C	23215	broad.mit.edu	37	1	171505341	171505341	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:171505341G>T	ENST00000367742.3	+	14	2459	c.2217G>T	c.(2215-2217)tgG>tgT	p.W739C	PRRC2C_ENST00000426496.2_Missense_Mutation_p.W737C|PRRC2C_ENST00000338920.4_Missense_Mutation_p.W737C|PRRC2C_ENST00000392078.3_Missense_Mutation_p.W739C			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	737	Pro-rich.						protein C-terminus binding										ATCCAAGGTGGCTCATGATGC	0.473000													12	12					7.03913e-09	8.89521e-09	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185802849	185802849	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:185802849A>T	ENST00000302277.6	+	4	3320	c.2726A>T	c.(2725-2727)gAt>gTt	p.D909V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	909						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAATTGTCAGATGTTTCCAAT	0.413000													12	88					0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	138011928	138011928	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:138011928C>T	ENST00000252854.4	+	6	1495	c.1308C>T	c.(1306-1308)taC>taT	p.Y436Y	OLFM1_ENST00000371793.3_Silent_p.Y454Y|OLFM1_ENST00000371796.3_Silent_p.Y427Y	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	454	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TGCTGGACTACAACCCCAAGG	0.537000													17	90					0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47590270	47590270	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:47590270A>T	ENST00000172229.3	+	6	1308	c.1183A>T	c.(1183-1185)Agc>Tgc	p.S395C	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.S301C	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	395	Death.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CACCCAGGACAGCGCCACACT	0.687000													3	22					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100933199	100933199	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:100933199T>A	ENST00000325455.5	-	4	3644	c.2191A>T	c.(2191-2193)Aag>Tag	p.K731*	PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Nonsense_Mutation_p.K137*	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	731	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TTAGACCACTTGACTACTGAA	0.333000													60	144					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858403	9858403	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr16:9858403C>T	ENST00000396573.2	-	14	3307	c.2998G>A	c.(2998-3000)Gtg>Atg	p.V1000M	GRIN2A_ENST00000404927.2_Missense_Mutation_p.V1000M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V1000M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V1000M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V843M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V1000M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1000					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)	TCTGTGCTCACGGCCACCTCC	0.512000													13	82					0	0	1	0	0
CACTIN	58509	broad.mit.edu	37	19	3623819	3623819	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:3623819C>A	ENST00000429344.2	-	2	561	c.509G>T	c.(508-510)cGg>cTg	p.R170L	CACTIN_ENST00000221899.3_Missense_Mutation_p.R102L|CACTIN_ENST00000248420.5_Missense_Mutation_p.R170L	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		CTTGGCCAGCCGCCGTGCGCG	0.657000													6	14					0.217242	0.217242	1	1	0
RAB3GAP1	22930	broad.mit.edu	37	2	135893295	135893295	+	Silent	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:135893295A>T	ENST00000264158.8	+	17	1759	c.1716A>T	c.(1714-1716)ggA>ggT	p.G572G	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Silent_p.G528G|RAB3GAP1_ENST00000442034.1_Silent_p.G572G	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	572						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GAGAGGTAGGAAAATCTTGGG	0.408000													17	31					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74274191	74274191	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:74274191C>G	ENST00000409262.3	+	1	742	c.742C>G	c.(742-744)Ccc>Gcc	p.P248A		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	248							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						GGCTTCTTGCCCCCTTCCTGA	0.592000													33	56					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222838929	222838929	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:222838929G>C	ENST00000344922.5	+	28	5717	c.5692G>C	c.(5692-5694)Gac>Cac	p.D1898H	MIA3_ENST00000344441.6_Missense_Mutation_p.D1898H|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.D776H	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1898					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CACTAGCCAGGACTGTTCACA	0.478000													9	170					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197070480	197070480	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:197070480T>C	ENST00000367409.4	-	18	8157	c.7901A>G	c.(7900-7902)cAt>cGt	p.H2634R	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2634	IQ 28.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GGCTTTACAATGCTTCTGAAT	0.378000													20	36					0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86199740	86199740	+	Splice_Site	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:86199740T>C	ENST00000361228.3	-	2	416	c.47_splice	c.e2-1	p.R16_splice		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	16					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TAGTTGGAGATCTGAAAGAAA	0.378000													8	50					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2830736	2830736	+	Silent	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr8:2830736G>C	ENST00000602557.1	-	58	9384	c.8829C>G	c.(8827-8829)ctC>ctG	p.L2943L	CSMD1_ENST00000542608.1_Silent_p.L2884L|CSMD1_ENST00000602723.1_Silent_p.L2885L|CSMD1_ENST00000520002.1_Silent_p.L2943L|CSMD1_ENST00000537824.1_Silent_p.L2942L|CSMD1_ENST00000400186.3_Silent_p.L2885L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2943	Sushi 22.					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)		AGGAGAAGCGGAGAAGACTCT	0.537000													28	79					0	0	1	0	0
DDX55	57696	broad.mit.edu	37	12	124097728	124097728	+	Silent	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:124097728A>T	ENST00000238146.4	+	8	803	c.753A>T	c.(751-753)gcA>gcT	p.A251A	DDX55_ENST00000538744.1_Silent_p.A251A	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	251							ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TATGCAAGGCAGATGAGAAAT	0.378000													13	69					0	0	1	0	0
MAP2K6	5608	broad.mit.edu	37	17	67532289	67532289	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:67532289C>A	ENST00000590474.1	+	11	1202	c.915C>A	c.(913-915)taC>taA	p.Y305*	MAP2K6_ENST00000589647.1_Nonsense_Mutation_p.Y249*	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	305	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|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|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					GGCCTACATACCCAGAGCTAA	0.318000													21	153					3.8784e-16	5.56562e-16	1	1	0
PKD1L1	168507	broad.mit.edu	37	7	47913531	47913531	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:47913531G>T	ENST00000289672.2	-	24	3912	c.3862C>A	c.(3862-3864)Cgc>Agc	p.R1288S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1288	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCATGGTAGCGGGGCAGCACA	0.512000													5	50					0.014758	0.0152379	1	1	0
SLC12A5	57468	broad.mit.edu	37	20	44673636	44673636	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr20:44673636G>T	ENST00000454036.1	+	12	1571	c.1495G>T	c.(1495-1497)Gtg>Ttg	p.V499L	SLC12A5_ENST00000243964.3_Missense_Mutation_p.V476L|SLC12A5_ENST00000539566.1_Intron	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	499					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAACCTCGTGGTGGGCACTCT	0.602000													36	138					3.76114e-14	5.23468e-14	1	1	0
OR10X1	128367	broad.mit.edu	37	1	158549373	158549373	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:158549373C>T	ENST00000368150.1	-	1	316	c.317G>A	c.(316-318)aGa>aAa	p.R106K		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TGAAATGCTTCTGTCCTTGGC	0.478000													8	112					0	0	1	0	0
MOAP1	64112	broad.mit.edu	37	14	93649946	93649946	+	Silent	SNP	T	T	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr14:93649946T>G	ENST00000556883.1	-	2	1126	c.642A>C	c.(640-642)gcA>gcC	p.A214A	MOAP1_ENST00000298894.4_Silent_p.A214A			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	214					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		taacatcaagtgctgggcctc	0.453000													11	147					0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39726903	39726903	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr20:39726903G>C	ENST00000361337.2	+	11	1151	c.901G>C	c.(901-903)Gat>Cat	p.D301H		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	301					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	AAGCAAATGTGATTTTACCCA	0.368000			T	NUP98	AML*								24	57					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41599626	41599626	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:41599626C>A	ENST00000330436.3	+	6	923	c.923C>A	c.(922-924)aCc>aAc	p.T308N		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	308					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	ACCGTGAGCACCACCCTGCGC	0.562000													9	65					0.000274275	0.000295821	1	1	0
TOR1B	27348	broad.mit.edu	37	9	132571214	132571214	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:132571214G>T	ENST00000259339.2	+	4	732	c.672G>T	c.(670-672)acG>acT	p.T224T		NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	224					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				TAACTAAGACGGCTCTTGACT	0.463000													38	71					1.60099e-16	2.32372e-16	1	1	0
KCNS3	3790	broad.mit.edu	37	2	18112790	18112790	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:18112790G>T	ENST00000403915.1	+	3	966	c.515G>T	c.(514-516)tGg>tTg	p.W172L	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.W172L			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	172					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAGAAAATCTGGATTAGAATG	0.512000													5	55					0.0293803	0.0299102	1	1	0
RIMBP2	23504	broad.mit.edu	37	12	130912804	130912804	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:130912804C>T	ENST00000261655.4	-	12	2444	c.2281G>A	c.(2281-2283)Gag>Aag	p.E761K		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	761						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGCTCCTCCTCGTCCTCCTCC	0.617000													8	67					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332456	22332456	+	RNA	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr15:22332456C>A	ENST00000558896.1	+	0	263																											TTCTTCTGGGCCTATCATCTT	0.368000													27	128					5.61819e-17	8.2249e-17	1	1	0
PLS1	5357	broad.mit.edu	37	3	142430746	142430746	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr3:142430746C>G	ENST00000337777.3	+	16	2000	c.1787C>G	c.(1786-1788)gCc>gGc	p.A596G	PLS1_ENST00000457734.2_Missense_Mutation_p.A596G|PLS1_ENST00000497002.1_Missense_Mutation_p.A596G	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	596	Actin-binding 2.|CH 4.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AAGATCGGTGCCCGGATATAT	0.378000													47	99					0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310129	124310129	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:124310129G>T	ENST00000328064.2	-	1	925	c.853C>A	c.(853-855)Ctc>Atc	p.L285I		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AATGGGTTGAGCATGGGCACC	0.423000													31	62					1.13719e-10	1.49275e-10	1	1	0
CD163	9332	broad.mit.edu	37	12	7639341	7639341	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:7639341C>T	ENST00000359156.4	-	10	2414	c.2212G>A	c.(2212-2214)Ggc>Agc	p.G738S	CD163_ENST00000396620.3_Missense_Mutation_p.G771S|CD163_ENST00000541972.1_Missense_Mutation_p.G726S|CD163_ENST00000432237.2_Missense_Mutation_p.G738S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	738	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCCCAGGAGCCCTCATGATAG	0.517000													41	107					0	0	1	0	0
RAB28	9364	broad.mit.edu	37	4	13378210	13378210	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr4:13378210G>A	ENST00000288723.4	-	6	746	c.532C>T	c.(532-534)Ctt>Ttt	p.L178F	RAB28_ENST00000338176.4_Missense_Mutation_p.L178F|RAB28_ENST00000330852.5_Missense_Mutation_p.L178F	NM_004249.3	NP_004240.2	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	178					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TTGATCCCAAGGATTTCAGCA	0.299000													14	54					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70171605	70171605	+	Splice_Site	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:70171605G>T	ENST00000253925.7	+	5	746		c.e5-1		PPFIA1_ENST00000389547.3_Splice_Site|CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1						cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTTATTTTCAGGTGAGAGAGC	0.328000													48	72					6.23363e-37	1.02151e-36	1	1	0
NTRK3	4916	broad.mit.edu	37	15	88669511	88669511	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr15:88669511C>A	ENST00000394480.1	-	13	1708	c.1387G>T	c.(1387-1389)Gga>Tga	p.G463*	NTRK3_ENST00000360948.2_Nonsense_Mutation_p.G463*|NTRK3_ENST00000355254.2_Nonsense_Mutation_p.G463*|NTRK3_ENST00000542733.2_Nonsense_Mutation_p.G365*|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000557856.1_Nonsense_Mutation_p.G455*|NTRK3_ENST00000357724.2_Nonsense_Mutation_p.G455*|NTRK3_ENST00000317501.3_Nonsense_Mutation_p.G463*|NTRK3_ENST00000558676.1_Nonsense_Mutation_p.G455*|NTRK3_ENST00000540489.2_Nonsense_Mutation_p.G463*	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	463					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCCTTCATTCCAAATTTGGAC	0.443000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			7	24					0.00307968	0.00321909	1	1	0
CDHR1	92211	broad.mit.edu	37	10	85968063	85968063	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr10:85968063C>A	ENST00000372117.3	+	11	1200	c.1097C>A	c.(1096-1098)tCc>tAc	p.S366Y	CDHR1_ENST00000332904.3_Missense_Mutation_p.S366Y|CDHR1_ENST00000440770.2_Missense_Mutation_p.S125Y	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	366	Cadherin 4.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TTTGAGCTGTCCATGAATGAG	0.597000													5	52					0.000602214	0.000641352	1	1	0
NEUROD6	63974	broad.mit.edu	37	7	31378046	31378046	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:31378046C>T	ENST00000297142.3	-	2	1159	c.837G>A	c.(835-837)ttG>ttA	p.L279L		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	279					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TACCATAGTCCAAGGTTTCTT	0.507000													5	57					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55033135	55033135	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:55033135C>A	ENST00000417545.2	+	3	605	c.519C>A	c.(517-519)aaC>aaA	p.N173K		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	157						intracellular	zinc ion binding	p.N173K(1)|p.N157K(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ATCAGAGAAACCTGAATGTGG	0.408000													6	29					0.000157383	0.000173053	1	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107459800	107459800	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:107459800C>T	ENST00000409382.3	-	2	1244	c.634G>A	c.(634-636)Gtc>Atc	p.V212I	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.V212I|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.V212I	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	212					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTGGAAGAGACGTTCCCCTTC	0.637000													14	41					0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80717571	80717571	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr6:80717571C>T	ENST00000509894.1	+	3	1014	c.185C>T	c.(184-186)cCa>cTa	p.P62L	TTK_ENST00000369798.2_Missense_Mutation_p.P62L|TTK_ENST00000230510.3_Missense_Mutation_p.P62L			P33981	TTK_HUMAN	TTK protein kinase	62					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GCAAACAACCCAGAGGACTGG	0.348000													11	36					0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12186294	12186294	+	Splice_Site	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:12186294G>A	ENST00000263932.2	+	12	1531		c.e12+1		TNFRSF8_ENST00000479933.2_Splice_Site|TNFRSF8_ENST00000417814.2_Splice_Site|TNFRSF8_ENST00000413146.2_Splice_Site	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8						cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTTGTGGGTGAGTGTCCA	0.657000													8	69					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82786069	82786069	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:82786069G>A	ENST00000265077.3	+	3	788	c.223G>A	c.(223-225)Gga>Aga	p.G75R	VCAN_ENST00000513984.1_Missense_Mutation_p.G75R|VCAN_ENST00000343200.5_Missense_Mutation_p.G75R|VCAN_ENST00000512590.2_Missense_Mutation_p.G27R|VCAN_ENST00000502527.2_Missense_Mutation_p.G75R|VCAN_ENST00000342785.4_Missense_Mutation_p.G75R	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	75	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGACAAAAATGGAAAAGATTT	0.433000													7	105					0	0	1	0	0
HERC2P4	100289574	broad.mit.edu	37	16	32163507	32163507	+	RNA	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr16:32163507C>A	ENST00000564145.1	-	0	65																											TTTTGCCCTTCGGGGTGATGC	0.542000													7	79					1.06961e-07	1.28455e-07	1	1	0
POTED	317754	broad.mit.edu	37	21	14982875	14982875	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr21:14982875G>A	ENST00000299443.5	+	1	378	c.326G>A	c.(325-327)tGc>tAc	p.C109Y		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	109						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						TTCCCCTGCTGCAGGGGGAGC	0.582000													6	18					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3779703	3779703	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:3779703C>A	ENST00000310132.6	-	9	1233	c.835G>T	c.(835-837)Gtc>Ttc	p.V279F	MATK_ENST00000395045.2_Missense_Mutation_p.V280F|MATK_ENST00000395040.2_Missense_Mutation_p.V238F|MATK_ENST00000585778.1_Missense_Mutation_p.V279F	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	279	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGTCATGACGGCCGTCTCG	0.667000													8	26					0.000157383	0.000173053	1	1	0
ACOT8	10005	broad.mit.edu	37	20	44470570	44470570	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr20:44470570C>T	ENST00000217455.4	-	6	957	c.867G>A	c.(865-867)ggG>ggA	p.G289G	SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Intron	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	289					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				GCCACAGCCGCCCATGGACCA	0.567000													4	16					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168281113	168281113	+	Silent	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr6:168281113A>T	ENST00000366806.2	+	6	955	c.813A>T	c.(811-813)acA>acT	p.T271T	MLLT4_ENST00000392108.3_Silent_p.T271T|MLLT4_ENST00000400822.3_Silent_p.T270T|MLLT4_ENST00000392112.1_Silent_p.T270T|MLLT4_ENST00000351017.4_Silent_p.T271T|MLLT4_ENST00000447894.2_Silent_p.T271T|MLLT4_ENST00000344191.4_Silent_p.T271T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	271	Ras-associating 2.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TGTCTACTACAGATCCTGCAG	0.393000			T	MLL	AL								36	128					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111594504	111594504	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:111594504C>T	ENST00000304987.3	+	15	2605	c.2432C>T	c.(2431-2433)gCt>gTt	p.A811V		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	811					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CCCCGGGCTGCTCCTCCTCTG	0.657000													12	142					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5054741	5054741	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:5054741T>G	ENST00000381652.3	+	7	1287	c.793T>G	c.(793-795)Ttc>Gtc	p.F265V	JAK2_ENST00000544510.1_Missense_Mutation_p.F116V|JAK2_ENST00000539801.1_Missense_Mutation_p.F265V	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	265	FERM.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GCAGTCTGCCTTCTACACAGA	0.393000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				14	50					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32140239	32140239	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:32140239A>C	ENST00000312561.4	+	5	5483	c.5069A>C	c.(5068-5070)aAa>aCa	p.K1690T	KIAA1551_ENST00000535596.1_3'UTR	NM_018169.3	NP_060639.3			KIAA1551																		AGGACACAGAAAGACAGCCAA	0.299000													7	46					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677809	73677809	+	Silent	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:73677809A>G	ENST00000264448.6	+	8	4263	c.4152A>G	c.(4150-4152)acA>acG	p.T1384T	ALMS1_ENST00000409009.1_Silent_p.T1342T|ALMS1_ENST00000377715.1_Silent_p.T1384T	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1384	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CACAACATACAGAGAAGCCGA	0.468000													64	125					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5054743	5054743	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:5054743C>G	ENST00000381652.3	+	7	1289	c.795C>G	c.(793-795)ttC>ttG	p.F265L	JAK2_ENST00000544510.1_Missense_Mutation_p.F116L|JAK2_ENST00000539801.1_Missense_Mutation_p.F265L	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	265	FERM.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		AGTCTGCCTTCTACACAGAGA	0.393000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				15	50					0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322778	5322778	+	Silent	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:5322778A>T	ENST00000380224.1	-	1	448	c.399T>A	c.(397-399)ctT>ctA	p.L133L	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGAATTGGTAAGAATGCAGT	0.433000													9	115					0	0	1	0	0
SLC35A2	7355	broad.mit.edu	37	X	48762204	48762204	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chrX:48762204C>A	ENST00000376521.1	-	4	1303	c.982G>T	c.(982-984)Gct>Tct	p.A328S	SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000247138.5_Missense_Mutation_p.A328S|SLC35A2_ENST00000413561.2_Missense_Mutation_p.A267S|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000452555.2_Missense_Mutation_p.A356S|SLC35A2_ENST00000445167.2_Intron	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	328					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity	p.A328T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						ACGAGTCCAGCGCCAAGGGCA	0.592000													3	16					0.115264	0.116874	1	1	0
ADORA3	140	broad.mit.edu	37	1	112045664	112045664	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:112045664C>T	ENST00000241356.4	-	1	718	c.313G>A	c.(313-315)Gct>Act	p.A105T	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000486342.1_5'UTR|ADORA3_ENST00000369716.4_Missense_Mutation_p.A105T	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	105			A -> T (in a colorectal cancer sample; somatic mutation).		activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.A105T(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	CGGTCCACAGCGATGGCCAGC	0.552000													7	36					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8219340	8219340	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:8219340C>T	ENST00000361926.3	+	9	1688	c.1578C>T	c.(1576-1578)gaC>gaT	p.D526D	ARHGEF15_ENST00000421050.1_Silent_p.D526D	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	526	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TCTGCAGGGACACCAACGTGC	0.687000													6	21					0	0	1	0	0
CCR10	2826	broad.mit.edu	37	17	40832577	40832577	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:40832577G>A	ENST00000332438.4	-	2	102	c.83C>T	c.(82-84)cCg>cTg	p.P28L	CCR10_ENST00000591765.1_5'UTR|CTD-3193K9.4_ENST00000593139.1_RNA	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	28						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCAAAGCTCCGGCAGTGGCTC	0.612000													6	50					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21970206	21970206	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:21970206C>A	ENST00000261200.4	-	31	3806	c.3807G>T	c.(3805-3807)ttG>ttT	p.L1269F	ABCC9_ENST00000345162.2_Missense_Mutation_p.L1233F|ABCC9_ENST00000261201.4_Missense_Mutation_p.L1269F	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1269	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCAGGTCAGCCAAGTTCCTCA	0.383000													15	196					0.000422831	0.000454119	1	1	0
F13B	2165	broad.mit.edu	37	1	197026189	197026189	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:197026189C>T	ENST00000367412.1	-	7	1168	c.1125G>A	c.(1123-1125)gaG>gaA	p.E375E		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	375	Sushi 6.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TACAAGTTATCTCATTCGATC	0.368000													22	67					0	0	1	0	0
NKD2	85409	broad.mit.edu	37	5	1037950	1037950	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:1037950C>T	ENST00000296849.5	+	10	1047	c.818C>T	c.(817-819)cCc>cTc	p.P273L	NKD2_ENST00000382730.2_Intron|NKD2_ENST00000274150.4_3'UTR	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	273					exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			AAGCAGGAGCCCCAGGGCAGG	0.657000													4	27					0	0	1	0	0
GPBAR1	151306	broad.mit.edu	37	2	219128429	219128429	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:219128429G>A	ENST00000522678.1	+	2	1850	c.982G>A	c.(982-984)Gac>Aac	p.D328N	GPBAR1_ENST00000479077.1_Missense_Mutation_p.D328N|GPBAR1_ENST00000521462.1_Missense_Mutation_p.D328N|GPBAR1_ENST00000519574.1_Missense_Mutation_p.D328N	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	328						integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCGACCTGGACTTGAACTA	0.622000													6	70					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153225260	153225260	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chrX:153225260C>G	ENST00000310441.7	-	8	2403	c.1437G>C	c.(1435-1437)agG>agC	p.R479S	HCFC1_ENST00000354233.3_Missense_Mutation_p.R410S|HCFC1_ENST00000369984.4_Missense_Mutation_p.R479S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	479					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCTTGAGTCCTGGCTGCGG	0.677000													13	9					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204924038	204924038	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:204924038C>A	ENST00000367172.4	+	7	822	c.494C>A	c.(493-495)cCg>cAg	p.P165Q	NFASC_ENST00000360049.4_Missense_Mutation_p.P159Q|NFASC_ENST00000401399.1_Missense_Mutation_p.P165Q|NFASC_ENST00000404907.1_Missense_Mutation_p.P159Q|NFASC_ENST00000513543.1_Missense_Mutation_p.P159Q|NFASC_ENST00000404076.1_Missense_Mutation_p.P159Q|NFASC_ENST00000367169.4_Missense_Mutation_p.P165Q|NFASC_ENST00000338515.6_Missense_Mutation_p.P165Q|NFASC_ENST00000339876.6_Missense_Mutation_p.P165Q|NFASC_ENST00000367171.4_Missense_Mutation_p.P165Q|NFASC_ENST00000367170.4_Missense_Mutation_p.P165Q|NFASC_ENST00000539706.1_Missense_Mutation_p.P159Q|NFASC_ENST00000403080.1_Missense_Mutation_p.P165Q|NFASC_ENST00000338586.6_Missense_Mutation_p.P165Q			O94856	NFASC_HUMAN	neurofascin	165	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGCAACCCCCCGCCTGGACTT	0.567000													49	149					2.29192e-23	3.5935e-23	1	1	0
CD1A	909	broad.mit.edu	37	1	158225078	158225078	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:158225078G>A	ENST00000289429.5	+	2	796	c.263G>A	c.(262-264)cGt>cAt	p.R88H		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	88					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACATTATTCCGTATACGCACC	0.488000													24	102					0	0	1	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14950843	14950843	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr10:14950843C>T	ENST00000453695.2	-	14	1727	c.1283G>A	c.(1282-1284)aGt>aAt	p.S428N	DCLRE1C_ENST00000378254.1_Missense_Mutation_p.S428N|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.S433N|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.S433N|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.S428N|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.S428N|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.S433N|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.S201N|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.S428N|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.S548N	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	548					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CCAGCCTTGACTTCCTTGTTC	0.443000								Non-homologous end-joining					15	83					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738905	176738905	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:176738905C>T	ENST00000367662.3	+	16	5650	c.4486C>T	c.(4486-4488)Cca>Tca	p.P1496S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1496	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTCCCACCAGCCAAGCT	0.512000													42	154					0	0	1	0	0
FYTTD1	84248	broad.mit.edu	37	3	197505313	197505313	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr3:197505313A>C	ENST00000428395.2	+	9	996	c.563A>C	c.(562-564)gAc>gCc	p.D188A	FYTTD1_ENST00000241502.3_Missense_Mutation_p.D279A|FYTTD1_ENST00000424384.2_Missense_Mutation_p.D212A|FYTTD1_ENST00000415708.2_Missense_Mutation_p.D253A|FYTTD1_ENST00000492360.1_3'UTR	NM_001011537.2	NP_001011537.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	279					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		CTGCAGTTTGACATAAACAGT	0.353000													6	47					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78225320	78225320	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:78225320C>A	ENST00000397909.2	+	1	252	c.79C>A	c.(79-81)Cca>Aca	p.P27T	NAV3_ENST00000228327.6_Missense_Mutation_p.P27T|NAV3_ENST00000266692.7_Missense_Mutation_p.P27T|NAV3_ENST00000536525.2_Missense_Mutation_p.P27T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	27						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCTTCCGATACCAAATCTTGG	0.458000										HNSCC(70;0.22)			75	142					1.68946e-44	2.78651e-44	1	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14851707	14851707	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr18:14851707C>T	ENST00000358984.4	+	36	3587	c.3407C>T	c.(3406-3408)aCa>aTa	p.T1136I		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1221										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAACAGAAAACAGTAACAAAA	0.358000													13	45					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040515	107040515	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:107040515G>C	ENST00000409886.3	-	20	3995	c.3908C>G	c.(3907-3909)tCt>tGt	p.S1303C	RGPD3_ENST00000304514.7_Missense_Mutation_p.S1303C	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1303					intracellular transport		binding	p.K1304fs*5(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AGGAGACTTAGATAGACTCAA	0.403000													83	141					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573763	140573763	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:140573763G>T	ENST00000239446.4	+	1	1822	c.1638G>T	c.(1636-1638)ctG>ctT	p.L546L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		546	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAGGCGCTGGTGCGCGTGC	0.711000													20	30					9.04412e-07	1.06599e-06	1	1	0
FCRLA	84824	broad.mit.edu	37	1	161681009	161681009	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:161681009C>T	ENST00000540926.1	+	4	555	c.262C>T	c.(262-264)Ctc>Ttc	p.L88F	FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000236938.6_Missense_Mutation_p.L99F|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000349527.4_Missense_Mutation_p.L82F|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.L88F|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367959.2_Missense_Mutation_p.L105F|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000350710.3_Intron			Q7L513	FCRLA_HUMAN	Fc receptor-like A	82	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGGCTGATCCTCCAAGGTCC	0.587000													30	31					0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68404942	68404942	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr16:68404942G>C	ENST00000219334.5	-	3	1746	c.1143C>G	c.(1141-1143)taC>taG	p.Y381*	SMPD3_ENST00000568373.1_Nonsense_Mutation_p.Y381*|SMPD3_ENST00000563226.1_Nonsense_Mutation_p.Y381*	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	381					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TGTACTCGAAGTAGCCGTGCA	0.597000													8	37					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587721	247587721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:247587721G>T	ENST00000366497.2	+	4	1756	c.976G>T	c.(976-978)Gag>Tag	p.E326*	NLRP3_ENST00000336119.3_Nonsense_Mutation_p.E326*|NLRP3_ENST00000348069.2_Nonsense_Mutation_p.E326*|NLRP3_ENST00000366496.2_Nonsense_Mutation_p.E326*|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Nonsense_Mutation_p.E326*|NLRP3_ENST00000391828.3_Nonsense_Mutation_p.E326*	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	326	NACHT.				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)			GCAGAAGGCCGAGCGGGGAGA	0.572000													7	109					0.00198382	0.00208219	1	1	0
GOLGA2	2801	broad.mit.edu	37	9	131023512	131023512	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:131023512T>A	ENST00000421699.2	-	16	1290	c.1278A>T	c.(1276-1278)gaA>gaT	p.E426D		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	426						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCATGCTACATTCCTTCTCCT	0.597000													13	126					0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46976208	46976208	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:46976208C>A	ENST00000371956.4	+	2	245	c.230C>A	c.(229-231)gCg>gAg	p.A77E	DMBX1_ENST00000360032.3_Missense_Mutation_p.A72E	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	77	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGCCGCACAGCGTTCACGGCT	0.587000													11	27					3.07112e-06	3.55382e-06	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105412058	105412058	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr14:105412058G>C	ENST00000333244.5	-	7	9849	c.9730C>G	c.(9730-9732)Ccc>Gcc	p.P3244A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3244						nucleus		p.P3244T(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTATCTGGGGGCCCTTGCGA	0.612000													67	123					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53617317	53617317	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr13:53617317C>A	ENST00000219022.2	+	4	726	c.648C>A	c.(646-648)atC>atA	p.I216I		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	216					cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GCCGAGAAATCGTGGCTCTGA	0.443000													22	60					5.26018e-13	7.164e-13	1	1	0
FRMD6	122786	broad.mit.edu	37	14	52186968	52186968	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr14:52186968G>T	ENST00000395718.2	+	11	1481	c.1196G>T	c.(1195-1197)gGg>gTg	p.G399V	FRMD6_ENST00000554167.1_Missense_Mutation_p.G330V|FRMD6_ENST00000553556.1_Missense_Mutation_p.G49V|FRMD6_ENST00000344768.5_Missense_Mutation_p.G407V|FRMD6_ENST00000356218.4_Missense_Mutation_p.G399V	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	407						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CGGGACACGGGGCCAGAAGAC	0.612000													6	50					5.18039e-06	5.95393e-06	1	1	0
POPDC2	64091	broad.mit.edu	37	3	119373406	119373406	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr3:119373406G>T	ENST00000493094.1	-	2	1005	c.546C>A	c.(544-546)ttC>ttA	p.F182L	POPDC2_ENST00000264231.3_Missense_Mutation_p.F182L|POPDC2_ENST00000538678.1_Missense_Mutation_p.F182L|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000468801.1_Missense_Mutation_p.F182L			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	182						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		GAGAGTCCATGAACTGGTATG	0.547000													16	39					4.7546e-09	6.05348e-09	1	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84533044	84533044	+	RNA	SNP	T	T	C	rs530720	by1000genomes	TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:84533044T>C	ENST00000527857.1	+	0	3066					NR_026851.1																						TTTTCTGATATTGACCATGAC	0.458000													4	33					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201777944	201777944	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:201777944C>A	ENST00000367296.4	+	20	4572	c.4152C>A	c.(4150-4152)cgC>cgA	p.R1384R	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Silent_p.R1324R|NAV1_ENST00000367295.1_Silent_p.R990R|NAV1_ENST00000367297.4_Silent_p.R1376R|NAV1_ENST00000295624.6_Silent_p.R1381R|NAV1_ENST00000367302.1_Silent_p.R1337R	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1384					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CTTCCCCACGCCGCTCCCTAG	0.567000													14	121					9.05144e-12	1.20056e-11	1	1	0
TAS1R2	80834	broad.mit.edu	37	1	19166739	19166739	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:19166739G>A	ENST00000375371.3	-	6	1895	c.1874C>T	c.(1873-1875)cCc>cTc	p.P625L		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	625					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGAGACCTTGGGCGGCCCCAC	0.622000													15	82					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37210634	37210634	+	Silent	SNP	G	G	T	rs117657033	by1000genomes	TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:37210634G>T	ENST00000585696.1	+	3	2145	c.915G>T	c.(913-915)tcG>tcT	p.S305S	ZNF567_ENST00000536254.2_Silent_p.S336S|ZNF567_ENST00000360729.4_Silent_p.S305S|ZNF567_ENST00000588311.1_Silent_p.S305S|ZNF567_ENST00000392163.2_Silent_p.S305S|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGGAGAAATCGTATGAATGTC	0.453000													6	47					0.0215528	0.0220298	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141242913	141242913	+	Splice_Site	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:141242913C>A	ENST00000389484.3	-	59	10395	c.9425_splice	c.e59+1	p.G3142_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3142					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTACAAACCCAGCTTGAGGA	0.333000										TSP Lung(27;0.18)			14	42					3.27435e-08	4.00812e-08	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11038940	11038940	+	RNA	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr21:11038940G>T	ENST00000470054.1	-	0	1263									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCTTATGTCTGCTGATAATGA	0.423000													23	501					2.21704e-12	2.97951e-12	1	1	0
EPHB6	2051	broad.mit.edu	37	7	142562249	142562249	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:142562249A>T	ENST00000392957.2	+	7	1478	c.691A>T	c.(691-693)Acc>Tcc	p.T231S	EPHB6_ENST00000442129.1_Missense_Mutation_p.T231S|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	231	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTTCTCCTACACCTGCCCTGC	0.672000													33	137					0	0	1	0	0
THEM4	117145	broad.mit.edu	37	1	151860831	151860831	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:151860831T>C	ENST00000368814.3	-	4	824	c.475A>G	c.(475-477)Atg>Gtg	p.M159V	THEM4_ENST00000477437.1_5'UTR	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	159					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane				endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCATCAATCATGGTTGCAATG	0.398000													56	45					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318981	79318981	+	Silent	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:79318981T>C	ENST00000428286.1	-	9	7671	c.6471A>G	c.(6469-6471)gaA>gaG	p.E2157E	PRUNE2_ENST00000376718.3_Silent_p.E2516E			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2516					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAATTGTTTTTTCTTCTTCCA	0.368000													49	103					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151366116	151366116	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chrX:151366116C>A	ENST00000370314.4	-	8	1158	c.920G>T	c.(919-921)cGt>cTt	p.R307L	GABRA3_ENST00000370311.1_Missense_Mutation_p.R307L|GABRA3_ENST00000535043.1_Missense_Mutation_p.R307L	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	307					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAAGACTGTACGGGCAGGAAC	0.463000													27	15					9.39395e-14	1.28629e-13	1	1	0
KCNQ2	3785	broad.mit.edu	37	20	62078122	62078122	+	Nonsense_Mutation	SNP	G	G	T	rs118192194		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr20:62078122G>T	ENST00000354587.3	-	2	541	c.365C>A	c.(364-366)tCg>tAg	p.S122*	KCNQ2_ENST00000370221.1_Nonsense_Mutation_p.S122*|KCNQ2_ENST00000370226.1_Nonsense_Mutation_p.S122*|KCNQ2_ENST00000344425.5_Nonsense_Mutation_p.S122*|KCNQ2_ENST00000370224.1_Nonsense_Mutation_p.S122*|KCNQ2_ENST00000430658.1_Nonsense_Mutation_p.S122*|KCNQ2_ENST00000359125.2_Nonsense_Mutation_p.S122*|KCNQ2_ENST00000360480.3_Nonsense_Mutation_p.S122*|KCNQ2_ENST00000370222.3_Nonsense_Mutation_p.S122*|KCNQ2_ENST00000359689.1_Nonsense_Mutation_p.S122*|KCNQ2_ENST00000344462.3_Nonsense_Mutation_p.S122*|KCNQ2_ENST00000357249.2_Nonsense_Mutation_p.S122*			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	122					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.S122L(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GGCCCCCTCCGAGCTCTTCTC	0.632000													25	83					2.79863e-10	3.6454e-10	1	1	0
SLC16A14	151473	broad.mit.edu	37	2	230911413	230911413	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:230911413C>A	ENST00000295190.4	-	4	887	c.429G>T	c.(427-429)ctG>ctT	p.L143L		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	143						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CCACCGCTGGCAGGTAGGCCA	0.602000													7	56					0.00198382	0.00208219	1	1	0
KCNK7	10089	broad.mit.edu	37	11	65360612	65360612	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:65360612C>T	ENST00000340313.4	-	3	1011	c.788G>A	c.(787-789)cGt>cAt	p.R263H	KCNK7_ENST00000394216.2_3'UTR|KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000342202.4_3'UTR	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	263						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						CCCCATGGCACGGACCTGCGG	0.617000													4	21					0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139303	142139303	+	RNA	SNP	T	T	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:142139303T>G	ENST00000390374.3	-	0	366																											CAGCGATACATGGCCGAGTCC	0.572000													8	76					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142562250	142562250	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:142562250C>A	ENST00000392957.2	+	7	1479	c.692C>A	c.(691-693)aCc>aAc	p.T231N	EPHB6_ENST00000442129.1_Missense_Mutation_p.T231N|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	231	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TTCTCCTACACCTGCCCTGCC	0.672000													33	143					4.39465e-27	6.9765e-27	1	1	0
WDR47	22911	broad.mit.edu	37	1	109524457	109524457	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:109524457C>T	ENST00000357672.3	-	12	2587	c.2212G>A	c.(2212-2214)Ggc>Agc	p.G738S	WDR47_ENST00000369965.4_Missense_Mutation_p.G767S|WDR47_ENST00000361054.3_Missense_Mutation_p.G738S|WDR47_ENST00000400794.3_Missense_Mutation_p.G774S|WDR47_ENST00000369962.3_Missense_Mutation_p.G766S			O94967	WDR47_HUMAN	WD repeat domain 47	766										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATCATCCAGCCACTCCAGGTA	0.383000													10	132					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73461370	73461370	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:73461370C>A	ENST00000377110.2	-	4	843	c.600G>T	c.(598-600)aaG>aaT	p.K200N	TRPM3_ENST00000377106.1_Missense_Mutation_p.K47N|TRPM3_ENST00000361823.5_Missense_Mutation_p.K47N|TRPM3_ENST00000423814.3_Missense_Mutation_p.K202N|TRPM3_ENST00000358082.3_Missense_Mutation_p.K47N|TRPM3_ENST00000357533.2_Missense_Mutation_p.K202N|TRPM3_ENST00000408909.2_Missense_Mutation_p.K47N|TRPM3_ENST00000396283.1_Missense_Mutation_p.K47N|TRPM3_ENST00000377111.2_Missense_Mutation_p.K200N|TRPM3_ENST00000396280.5_Missense_Mutation_p.K47N|TRPM3_ENST00000396285.1_Missense_Mutation_p.K47N|TRPM3_ENST00000396292.4_Missense_Mutation_p.K47N|TRPM3_ENST00000377105.1_Missense_Mutation_p.K47N|TRPM3_ENST00000360823.2_Missense_Mutation_p.K47N|TRPM3_ENST00000377101.1_Missense_Mutation_p.K47N|TRPM3_ENST00000377097.3_Missense_Mutation_p.K47N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	200						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CAAAGACTTGCTTGAGTTTTG	0.483000													48	149					4.18559e-23	6.54239e-23	1	1	0
ADCY2	108	broad.mit.edu	37	5	7820694	7820694	+	Silent	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:7820694T>A	ENST00000338316.4	+	24	3104	c.3015T>A	c.(3013-3015)ccT>ccA	p.P1005P	ADCY2_ENST00000537121.1_Silent_p.P825P	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1005					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACCATGGACCTGTGATAGCTG	0.428000													5	41					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171954	207171954	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:207171954A>C	ENST00000374423.3	+	5	3088	c.2702A>C	c.(2701-2703)cAg>cCg	p.Q901P		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	901							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAAGAAGAGCAGGTACACTTA	0.368000													8	52					0	0	1	0	0
PUS1	80324	broad.mit.edu	37	12	132416843	132416843	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:132416843G>T	ENST00000542167.2	+	2	1021	c.268G>T	c.(268-270)Gcc>Tcc	p.A90S	PUS1_ENST00000443358.2_Missense_Mutation_p.A115S|PUS1_ENST00000535067.1_Missense_Mutation_p.A115S|PUS1_ENST00000440818.2_Missense_Mutation_p.A115S|PUS1_ENST00000376649.3_Missense_Mutation_p.A143S			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	143						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CCAGCGCTGCGCCCGGACAGA	0.562000													8	27					0.00307968	0.00321909	1	1	0
FSCN3	29999	broad.mit.edu	37	7	127235724	127235724	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:127235724G>A	ENST00000265825.5	+	2	727	c.508G>A	c.(508-510)Gca>Aca	p.A170T	FSCN3_ENST00000420086.2_Missense_Mutation_p.A36T	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	170						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	p.A170T(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CTGGGTGGACGCAGCAGTTCC	0.607000													8	67					0	0	1	0	0
SLC22A23	63027	broad.mit.edu	37	6	3410527	3410527	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr6:3410527A>G	ENST00000436008.2	-	3	1270	c.808T>C	c.(808-810)Ttt>Ctt	p.F270L	SLC22A23_ENST00000406686.3_Missense_Mutation_p.F270L|SLC22A23_ENST00000380298.2_Missense_Mutation_p.F270L|SLC22A23_ENST00000380302.4_5'UTR|SLC22A23_ENST00000490273.1_5'UTR			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	270					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				GTCAGTCCAAAGATCAGAATG	0.463000													12	28					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21201777	21201777	+	Silent	SNP	C	C	G	rs145057136		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:21201777C>G	ENST00000342679.4	+	2	351	c.102C>G	c.(100-102)ccC>ccG	p.P34P	MAP2K3_ENST00000361818.5_Silent_p.P5P|MAP2K3_ENST00000316920.6_Silent_p.P5P	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	34					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCAAGCCACCCGCACCCAACC	0.562000													19	123					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87968813	87968813	+	Silent	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr6:87968813A>G	ENST00000369577.3	+	8	5509	c.5466A>G	c.(5464-5466)aaA>aaG	p.K1822K	ZNF292_ENST00000339907.4_Silent_p.K1817K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGCCAACAAAAAGTAACATTC	0.333000													20	13					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283771	159283771	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:159283771G>T	ENST00000332217.5	-	1	678	c.679C>A	c.(679-681)Ctt>Att	p.L227I		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GCAATCTTAAGAATGGTGGAG	0.488000													86	73					1.16018e-38	1.90735e-38	1	1	0
C2CD3	26005	broad.mit.edu	37	11	73820134	73820134	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:73820134C>A	ENST00000334126.7	-	12	2133	c.1907G>T	c.(1906-1908)tGg>tTg	p.W636L	C2CD3_ENST00000313663.7_Missense_Mutation_p.W636L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	636						centrosome		p.W636*(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGAATTCCACCAGTGCTCTAT	0.438000													32	42					3.80469e-20	5.76951e-20	1	1	0
DNM1	1759	broad.mit.edu	37	9	131008720	131008720	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:131008720G>T	ENST00000341179.7	+	16	1811	c.1719G>T	c.(1717-1719)cgG>cgT	p.R573R	DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000486160.1_Silent_p.R573R|DNM1_ENST00000393594.3_Silent_p.R573R|DNM1_ENST00000372923.3_Silent_p.R573R|DNM1_ENST00000475805.1_Silent_p.R573R	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	573	PH.				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TCAAGCTGCGGGACGTGGAGA	0.562000													17	49					1.33834e-09	1.72996e-09	1	1	0
CCDC80	151887	broad.mit.edu	37	3	112357658	112357658	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr3:112357658C>T	ENST00000206423.3	-	2	2048	c.1095G>A	c.(1093-1095)acG>acA	p.T365T	CCDC80_ENST00000439685.2_Silent_p.T365T	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	365	Thr-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CCGCCCGGGACGTGGACCGAG	0.642000													8	44					0	0	1	0	0
TRAV30	28652	broad.mit.edu	37	14	22636775	22636775	+	RNA	SNP	G	G	T	rs111804729		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr14:22636775G>T	ENST00000557168.1	+	0	228																											GAGAACAGAAGGGTCATGAAA	0.458000													10	42					2.17888e-05	2.45426e-05	1	1	0
CLEC4C	170482	broad.mit.edu	37	12	7882323	7882323	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:7882323C>A	ENST00000542353.1	-	7	1001	c.511G>T	c.(511-513)Ggt>Tgt	p.G171C	CLEC4C_ENST00000354629.5_Missense_Mutation_p.G140C|CLEC4C_ENST00000540085.1_Missense_Mutation_p.G140C|CLEC4C_ENST00000360345.3_Missense_Mutation_p.G171C	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	171	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TTGGGTTCACCTGAGTGCCAG	0.448000													28	139					6.07407e-21	9.29406e-21	1	1	0
EHMT1	79813	broad.mit.edu	37	9	140729340	140729340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:140729340G>T	ENST00000460843.1	+	27	3859	c.3832G>T	c.(3832-3834)Gcc>Tcc	p.A1278S		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1278					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GGCCAGCGCGGCCCAGGAGGC	0.746000													8	13					0.000274275	0.000295821	1	1	0
C1orf63	57035	broad.mit.edu	37	1	25573269	25573269	+	Silent	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:25573269G>A	ENST00000243189.7	-	2	462	c.186C>T	c.(184-186)tcC>tcT	p.S62S	C1orf63_ENST00000417642.2_Silent_p.S55S|C1orf63_ENST00000431849.2_Silent_p.S62S	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	62	Arg-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AACGGGACCTGGACTTGCTCC	0.652000													19	75					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196438174	196438174	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:196438174G>T	ENST00000367433.5	-	6	510	c.409C>A	c.(409-411)Cga>Aga	p.R137R	KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Silent_p.R137R|KCNT2_ENST00000367431.4_Silent_p.R137R			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	137						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						AAGGGTATTCGTAAAATCTGT	0.333000													6	24					1.06961e-07	1.28455e-07	1	1	0
CRB2	286204	broad.mit.edu	37	9	126133381	126133381	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:126133381G>T	ENST00000373631.3	+	8	1961	c.1960G>T	c.(1960-1962)Gcc>Tcc	p.A654S	CRB2_ENST00000359999.3_Missense_Mutation_p.A654S|CRB2_ENST00000373629.2_Missense_Mutation_p.A322S	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	654	Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTTGGGAGGCGCCCCAAGCTC	0.617000													62	128					1.80625e-27	2.87642e-27	1	1	0
DNAH3	55567	broad.mit.edu	37	16	20975261	20975261	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr16:20975261C>A	ENST00000261383.3	-	53	9944	c.9945G>T	c.(9943-9945)gaG>gaT	p.E3315D	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3315					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGTACATCGGCTCGATGTTGG	0.502000													13	104					9.31168e-06	1.05824e-05	1	1	0
PCLO	27445	broad.mit.edu	37	7	82451886	82451886	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:82451886G>C	ENST00000423517.2	-	20	15053	c.14716C>G	c.(14716-14718)Cag>Gag	p.Q4906E	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.Q4906E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4768					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						AGGTGGGTCTGAGTGACGCTG	0.498000													30	216					0	0	1	0	0
MIR645	693230	broad.mit.edu	37	20	49202373	49202373	+	RNA	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr20:49202373G>C	ENST00000385283.1	+	0	51					NR_030375.1																						tgggggttgaggacccctgCT	0.572000													4	41					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8115719	8115719	+	Silent	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr10:8115719T>A	ENST00000379328.3	+	6	1636	c.1068T>A	c.(1066-1068)acT>acA	p.T356T	GATA3_ENST00000346208.3_Silent_p.T355T|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	355					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.M357fs*14(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GACCCCTGACTATGAAGAAGG	0.398000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						6	40					0	0	1	0	0
TCF23	150921	broad.mit.edu	37	2	27375636	27375636	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:27375636C>A	ENST00000296096.5	+	3	676	c.546C>A	c.(544-546)agC>agA	p.S182R		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	182					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACCCCCAGCCAAAGAACAA	0.557000													33	67					8.4185e-14	1.16212e-13	1	1	0
IGF2BP1	10642	broad.mit.edu	37	17	47120823	47120823	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:47120823G>T	ENST00000290341.3	+	10	1445	c.1111G>T	c.(1111-1113)Gct>Tct	p.A371S	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A232S	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	371	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCTGAACCTGGCTGCTGTAGG	0.597000													36	54					6.97489e-18	1.02703e-17	1	1	0
CCDC132	55610	broad.mit.edu	37	7	92987717	92987717	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:92987717C>A	ENST00000544910.1	+	29	2994	c.2774C>A	c.(2773-2775)gCt>gAt	p.A925D	CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.A675D|CCDC132_ENST00000305866.5_Missense_Mutation_p.A955D	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	955										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTCTAGCAGCTATAGATGAT	0.388000													25	125					7.92952e-12	1.05727e-11	1	1	0
FERD3L	222894	broad.mit.edu	37	7	19184873	19184873	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:19184873G>C	ENST00000275461.3	-	1	171	c.113C>G	c.(112-114)tCc>tGc	p.S38C	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	38					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GTCCCCCAAGGAGACCCCGGG	0.662000													14	36					0	0	1	0	0
ADIG	149685	broad.mit.edu	37	20	37214727	37214727	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr20:37214727C>A	ENST00000537425.1	+	2	236	c.165C>A	c.(163-165)ggC>ggA	p.G55G		NM_001018082.1	NP_001018092.1	Q0VDE8	ADIG_HUMAN	adipogenin	60					brown fat cell differentiation|positive regulation of fat cell differentiation|white fat cell differentiation	cytoplasm|integral to membrane|nucleus				endometrium(1)|kidney(1)	2		Myeloproliferative disorder(115;0.00878)				GGAGCAAAGGCCCAGCTGAGT	0.592000													5	11					0.217242	0.217242	1	1	0
SEMA6A	57556	broad.mit.edu	37	5	115782666	115782666	+	Silent	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:115782666G>A	ENST00000343348.6	-	19	3523	c.2736C>T	c.(2734-2736)taC>taT	p.Y912Y	SEMA6A_ENST00000257414.8_Silent_p.Y929Y|SEMA6A_ENST00000282394.6_Silent_p.Y389Y|SEMA6A_ENST00000503865.1_Silent_p.Y291Y|SEMA6A_ENST00000510263.1_Silent_p.Y912Y|SEMA6A_ENST00000513137.1_Silent_p.Y339Y	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	912					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		AGTCAACCCCGTAGGAAGAGG	0.577000													36	63					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659540	176659540	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:176659540C>T	ENST00000367662.3	+	5	3569	c.2405C>T	c.(2404-2406)cCg>cTg	p.P802L	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P802L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	802					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCAGGGGCTCCGTTCACCAAC	0.567000													8	115					0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164761873	164761873	+	Silent	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:164761873T>C	ENST00000420696.2	+	3	596	c.408T>C	c.(406-408)tcT>tcC	p.S136S	PBX1_ENST00000367897.1_Silent_p.S136S|PBX1_ENST00000401534.1_Silent_p.S136S|PBX1_ENST00000540236.1_Silent_p.S136S|PBX1_ENST00000559240.1_Silent_p.S136S|PBX1_ENST00000540246.1_Silent_p.S31S|PBX1_ENST00000560641.1_Silent_p.S31S	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	136					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						cggcggcTTCTGGAGGGGCAG	0.607000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								5	41					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9051430	9051430	+	Splice_Site	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:9051430C>G	ENST00000457346.2	-	19	2578		c.e19+1		RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Splice_Site|SCUBE2_ENST00000450649.2_Splice_Site|SCUBE2_ENST00000309263.3_Splice_Site			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2							extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GAGGGACCTACTTTTACACTG	0.478000													9	155					0	0	1	0	0
C14orf177	283598	broad.mit.edu	37	14	99182651	99182651	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr14:99182651C>G	ENST00000325812.2	+	3	542	c.123C>G	c.(121-123)tgC>tgG	p.C41W		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	41										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				AAGGGAAATGCCCAAGTTCTC	0.542000													8	39					0	0	1	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60036664	60036664	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr18:60036664C>T	ENST00000586569.1	+	9	1552	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	TNFRSF11A_ENST00000269485.7_Intron	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	505					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCAAGCTCAGCGAGGGCAGGT	0.632000													5	45					0	0	1	0	0
ZPBP	11055	broad.mit.edu	37	7	50070791	50070791	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:50070791C>A	ENST00000046087.2	-	5	672	c.603G>T	c.(601-603)ctG>ctT	p.L201L	ZPBP_ENST00000419417.1_Silent_p.L200L|ZPBP_ENST00000491129.1_Intron	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	201					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GGTCAAGAAGCAGTTTGCTTA	0.333000													22	89					2.52088e-20	3.83415e-20	1	1	0
NLRP2	55655	broad.mit.edu	37	19	55494735	55494735	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:55494735T>A	ENST00000543010.1	+	6	1812	c.1669T>A	c.(1669-1671)Tcc>Acc	p.S557T	NLRP2_ENST00000537859.1_Missense_Mutation_p.S535T|NLRP2_ENST00000448584.2_Missense_Mutation_p.S557T|NLRP2_ENST00000538819.1_Missense_Mutation_p.S533T|NLRP2_ENST00000427260.2_Missense_Mutation_p.S534T|NLRP2_ENST00000339757.7_Missense_Mutation_p.S535T|NLRP2_ENST00000263437.6_Missense_Mutation_p.S554T|NLRP2_ENST00000391721.4_Missense_Mutation_p.S533T	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	557					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGGCTACTACTCCTTTGGCCT	0.557000													11	65					0	0	1	0	0
PRCP	5547	broad.mit.edu	37	11	82549566	82549566	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:82549566C>T	ENST00000313010.3	-	8	1331	c.1137G>A	c.(1135-1137)atG>atA	p.M379I	PRCP_ENST00000535099.1_Missense_Mutation_p.M274I|PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000393399.2_Missense_Mutation_p.M400I	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	379					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GAGGTTCAAACATGTCATCGA	0.428000													13	47					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248262885	248262885	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:248262885C>T	ENST00000366478.2	+	3	545	c.208C>T	c.(208-210)Ctg>Ttg	p.L70L	OR2L13_ENST00000358120.2_Silent_p.L70L	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCTTATGGACCTGATGTACAT	0.547000													41	218					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171262116	171262116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:171262116C>A	ENST00000334231.6	+	21	2520	c.2520C>A	c.(2518-2520)tgC>tgA	p.C840*	MYO3B_ENST00000408978.4_Nonsense_Mutation_p.C831*|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Nonsense_Mutation_p.C831*			Q8WXR4	MYO3B_HUMAN	myosin IIIB	831	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGGAACTGTGCTTTGGCATTC	0.413000													16	68					4.14922e-12	5.54685e-12	1	1	0
CGNL1	84952	broad.mit.edu	37	15	57734609	57734609	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr15:57734609A>G	ENST00000281282.5	+	4	1814	c.1736A>G	c.(1735-1737)aAc>aGc	p.N579S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	579						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGGAAAGTCAACTTGGTCTTT	0.408000													9	35					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66034066	66034066	+	Silent	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr15:66034066T>C	ENST00000443035.3	-	5	833	c.618A>G	c.(616-618)gtA>gtG	p.V206V	DENND4A_ENST00000431932.2_Silent_p.V206V	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	206	UDENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTTTGTAAGATACAGTGTTCG	0.318000													17	47					0	0	1	0	0
C7orf69	80099	broad.mit.edu	37	7	47857769	47857769	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:47857769T>A	ENST00000418326.2	+	3	310	c.197T>A	c.(196-198)aTg>aAg	p.M66K	PKD1L1_ENST00000289672.2_Intron|C7orf69_ENST00000258776.4_Missense_Mutation_p.M85K			Q9H7B7	CG069_HUMAN	chromosome 7 open reading frame 69	85						extracellular region				lung(2)	2						AGAACACAGATGGAGACAGAG	0.488000													4	42					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81624961	81624961	+	Missense_Mutation	SNP	G	G	T	rs115607037	by1000genomes	TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr15:81624961G>T	ENST00000558726.1	-	22	3240	c.3105C>A	c.(3103-3105)ttC>ttA	p.F1035L	TMC3_ENST00000359440.5_Missense_Mutation_p.F1034L|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	1034						integral to membrane		p.F1038F(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGGATGGCTCGAACCTGGGCT	0.607000													4	22					0.00909568	0.00946845	1	1	0
SORBS2	8470	broad.mit.edu	37	4	186544784	186544784	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr4:186544784G>C	ENST00000431808.1	-	14	2350	c.1787C>G	c.(1786-1788)tCc>tGc	p.S596C	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.S696C|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.S500C|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.S596C|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	596						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GTCGCTGTCGGAAAACTCCAC	0.587000													7	48					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686347	100686347	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:100686347A>G	ENST00000306151.4	+	3	11714	c.11650A>G	c.(11650-11652)Aca>Gca	p.T3884A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3884						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)					TGTCAGCACCACACTTCCAAC	0.478000													14	160					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553848	140553848	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:140553848A>T	ENST00000231137.3	+	1	1606	c.1432A>T	c.(1432-1434)Aga>Tga	p.R478*		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		478	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCACAGACAGAGACTCGGG	0.642000													37	81					0	0	1	0	0
CYP3A5	1577	broad.mit.edu	37	7	99264642	99264642	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:99264642T>A	ENST00000343703.5	-	6	721	c.335A>T	c.(334-336)gAg>gTg	p.E112V	CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000222982.4_Missense_Mutation_p.E122V					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					TTCTTCATCCTCAGCTAAAGA	0.393000													8	77					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136282	55136282	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:55136282C>A	ENST00000314706.3	+	1	923	c.923C>A	c.(922-924)cCc>cAc	p.P308H		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTTATAACTCCCATGCTGAAC	0.383000													49	159					4.21674e-32	6.82198e-32	1	1	0
OPHN1	4983	broad.mit.edu	37	X	67433734	67433734	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chrX:67433734C>A	ENST00000355520.5	-	7	1208	c.567G>T	c.(565-567)caG>caT	p.Q189H	OPHN1_ENST00000540071.1_Missense_Mutation_p.Q189H	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	189					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TCTTGGACTCCTGAACTTCCT	0.373000													5	9					0.184627	0.185724	1	1	0
OPTC	26254	broad.mit.edu	37	1	203468946	203468946	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:203468946C>A	ENST00000367222.2	+	5	815	c.699C>A	c.(697-699)ctC>ctA	p.L233L		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	233						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			TAAATCGGCTCCAGAGCTCGG	0.582000													27	87					6.12954e-19	9.21244e-19	1	1	0
FCRLA	84824	broad.mit.edu	37	1	161681008	161681008	+	Silent	SNP	C	C	A	rs142998045		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:161681008C>A	ENST00000540926.1	+	4	554	c.261C>A	c.(259-261)atC>atA	p.I87I	FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000236938.6_Silent_p.I98I|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000349527.4_Silent_p.I81I|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Silent_p.I87I|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367959.2_Silent_p.I104I|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000350710.3_Intron			Q7L513	FCRLA_HUMAN	Fc receptor-like A	81	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ACTGGCTGATCCTCCAAGGTC	0.592000													30	31					9.65021e-13	1.31078e-12	1	1	0
HUS1B	135458	broad.mit.edu	37	6	656832	656832	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr6:656832C>A	ENST00000380907.2	-	1	131	c.113G>T	c.(112-114)aGc>aTc	p.S38I	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	38										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GAAGCACAGGCTGTCAGGGCG	0.672000													6	16					3.59834e-05	4.02633e-05	1	1	0
KRT82	3888	broad.mit.edu	37	12	52797629	52797629	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:52797629C>T	ENST00000257974.2	-	2	553	c.476G>A	c.(475-477)aGg>aAg	p.R159K		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	159	Linker 1.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CTGGCAGCACCTCTGCTGCTG	0.582000													8	48					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39227571	39227571	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr3:39227571C>T	ENST00000340369.3	-	2	3594	c.3366G>A	c.(3364-3366)agG>agA	p.R1122R	XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1122							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTTGCTCTTCCCTACTGACCT	0.607000													5	65					0	0	1	0	0
CTSO	1519	broad.mit.edu	37	4	156850800	156850800	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr4:156850800T>C	ENST00000433477.3	-	6	801	c.732A>G	c.(730-732)atA>atG	p.I244M		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	244					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CTGCATCTACTATGACTACCA	0.388000													8	72					0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27077157	27077157	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:27077157G>T	ENST00000263182.3	+	3	548	c.180G>T	c.(178-180)gtG>gtT	p.V60V	BBOX1_ENST00000525090.1_Silent_p.V60V|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000528583.1_Silent_p.V60V|BBOX1_ENST00000529202.1_Silent_p.V60V|BBOX1_ENST00000527505.1_3'UTR	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	60					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	CTCTTGATGTGAACATTGGAA	0.408000													12	33					2.61681e-11	3.44389e-11	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103471818	103471818	+	Splice_Site	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:103471818C>A	ENST00000358392.2	-	16	2090	c.1773_splice	c.e16+1	p.R591_splice	COL11A1_ENST00000370096.3_Splice_Site_p.R579_splice|COL11A1_ENST00000353414.4_Splice_Site_p.R540_splice|COL11A1_ENST00000512756.1_Splice_Site_p.R463_splice|COL11A1_ENST00000461720.1_5'UTR	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	579	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TAAGCCATACCCTTTTTCCAG	0.353000													14	69					8.60227e-14	1.18427e-13	1	1	0
ABL1	25	broad.mit.edu	37	9	133759424	133759424	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:133759424G>A	ENST00000318560.5	+	11	2128	c.1747G>A	c.(1747-1749)Ggc>Agc	p.G583S		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	583					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CCCGGAGGGCGGCCTGAATGA	0.552000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								49	125					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5054660	5054660	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:5054660C>A	ENST00000381652.3	+	7	1206	c.712C>A	c.(712-714)Cag>Aag	p.Q238K	JAK2_ENST00000544510.1_Missense_Mutation_p.Q89K|JAK2_ENST00000539801.1_Missense_Mutation_p.Q238K	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	238	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		CAGATTTATTCAGCAATTCAG	0.368000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				15	93					1.37285e-15	1.95902e-15	1	1	0
THBS2	7058	broad.mit.edu	37	6	169622404	169622404	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr6:169622404G>T	ENST00000366787.3	-	20	3410	c.3161C>A	c.(3160-3162)cCc>cAc	p.P1054H	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1054	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGCCCGCGTGGGCTGGTCCTC	0.627000													19	15					2.94398e-08	3.63879e-08	1	1	0
RHOH	399	broad.mit.edu	37	4	40245386	40245386	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr4:40245386G>T	ENST00000381799.4	+	3	1104	c.380G>T	c.(379-381)aGg>aTg	p.R127M	RHOH_ENST00000505618.1_Missense_Mutation_p.R127M	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	127					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						GGGCCCCACAGGGCCTCCTGC	0.582000													17	36					9.16793e-09	1.14995e-08	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238245021	238245021	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:238245021C>T	ENST00000295550.4	-	40	9174	c.8722G>A	c.(8722-8724)Gcc>Acc	p.A2908T	COL6A3_ENST00000409809.1_Missense_Mutation_p.A2702T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2707T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2702T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2708T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A2301T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2908	Ala-rich.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTTGCAGCGGCTGGCTTCACA	0.577000													10	186					0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76356386	76356386	+	Silent	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:76356386A>T	ENST00000263187.3	+	17	2336	c.2232A>T	c.(2230-2232)gcA>gcT	p.A744A		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	744					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ttCAGATAGCATATATTCTAC	0.308000								Mismatch excision repair (MMR)					6	24					0	0	1	0	0
OR1A2	26189	broad.mit.edu	37	17	3101695	3101695	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:3101695A>T	ENST00000381951.1	+	1	883	c.883A>T	c.(883-885)Atg>Ttg	p.M295L		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						AAATTGGGATATGAAGGCAGC	0.453000													57	51					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25457247	25457247	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr20:25457247C>A	ENST00000278886.6	-	17	2753	c.2680G>T	c.(2680-2682)Gcc>Tcc	p.A894S	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	894					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGGGCAGGGGCGGGGGCCGGG	0.687000													7	14					5.18039e-06	5.95393e-06	1	1	0
BCLAF1	9774	broad.mit.edu	37	6	136599608	136599608	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr6:136599608C>T	ENST00000531224.1	-	4	663	c.411G>A	c.(409-411)agG>agA	p.R137R	BCLAF1_ENST00000527536.1_Silent_p.R137R|BCLAF1_ENST00000527759.1_Silent_p.R135R|BCLAF1_ENST00000392348.2_Silent_p.R135R|BCLAF1_ENST00000530767.1_Silent_p.R137R|BCLAF1_ENST00000353331.4_Silent_p.R135R	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	137					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATCTTGGAGACCTAGAAGATC	0.443000													53	308					0	0	1	0	0
EVI2B	2124	broad.mit.edu	37	17	29631427	29631427	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:29631427G>A	ENST00000330927.4	-	2	1355	c.1201C>T	c.(1201-1203)Ctt>Ttt	p.L401F	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.L401F|EVI2B_ENST00000544462.1_Missense_Mutation_p.L416F	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	401						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		GGCAAGTTAAGTGAGTCAAGC	0.418000													45	72					0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153473647	153473647	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:153473647A>C	ENST00000288670.9	+	13	1622	c.1255A>C	c.(1255-1257)Aag>Cag	p.K419Q		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	419	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AGCCATGTCCAAGATTGTGGA	0.443000													12	53					0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57662237	57662237	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:57662237G>A	ENST00000402412.1	-	18	2269	c.1879C>T	c.(1879-1881)Cca>Tca	p.P627S	R3HDM2_ENST00000546843.1_5'UTR|R3HDM2_ENST00000358907.2_Missense_Mutation_p.P613S|R3HDM2_ENST00000347140.3_Missense_Mutation_p.P613S|R3HDM2_ENST00000393811.2_Missense_Mutation_p.P340S|R3HDM2_ENST00000403821.2_Missense_Mutation_p.P647S|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Missense_Mutation_p.P308S|R3HDM2_ENST00000413953.2_Missense_Mutation_p.P340S			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	613	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTACCCACTGGAACCTGGGTG	0.532000													12	45					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179659191	179659191	+	Missense_Mutation	SNP	C	C	T	rs142414432	byFrequency	TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:179659191C>T	ENST00000589042.1	-	8	1557	c.1333G>A	c.(1333-1335)Gct>Act	p.A445T	TTN_ENST00000342992.6_Missense_Mutation_p.A445T|TTN_ENST00000359218.5_Missense_Mutation_p.A445T|TTN_ENST00000460472.2_Missense_Mutation_p.A445T|TTN_ENST00000591111.1_Missense_Mutation_p.A445T|TTN_ENST00000360870.5_Missense_Mutation_p.A445T|TTN_ENST00000342175.6_Missense_Mutation_p.A445T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	445							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)			TGCTCTACAGCGCTGATCACT	0.532000													9	164					0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125281709	125281709	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:125281709G>T	ENST00000340750.1	+	1	290	c.290G>T	c.(289-291)tGt>tTt	p.C97F		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TATGCAGGGTGTGTAACTCAG	0.423000													75	162					1.07363e-35	1.74809e-35	1	1	0
DDR2	4921	broad.mit.edu	37	1	162740157	162740157	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:162740157G>C	ENST00000367922.2	+	13	1797	c.1359G>C	c.(1357-1359)atG>atC	p.M453I	DDR2_ENST00000367921.3_Missense_Mutation_p.M453I	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	453					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ATTCTAGCATGTTCAACAATA	0.517000													25	193					0	0	1	0	0
LINC00922	283867	broad.mit.edu	37	16	65397156	65397156	+	RNA	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr16:65397156G>T	ENST00000569736.1	-	0	524				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1																						AGTAGAGAATGCTGATGGTAA	0.423000													28	28					3.73988e-18	5.55515e-18	1	1	0
OR2F1	26211	broad.mit.edu	37	7	143657479	143657479	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:143657479G>T	ENST00000392899.1	+	1	453	c.416G>T	c.(415-417)gGg>gTg	p.G139V		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ATGCATGGAGGGCTGTGTGCT	0.557000													7	117					2.7689e-08	3.43073e-08	1	1	0
TOR1AIP2	163590	broad.mit.edu	37	1	179833976	179833976	+	Silent	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:179833976T>C	ENST00000553856.1	-	1	335	c.336A>G	c.(334-336)ttA>ttG	p.L112L	TOR1AIP2_ENST00000482587.1_5'UTR|TOR1AIP2_ENST00000367612.3_Intron	NM_022347.3	NP_071742.1																					AGATTAACTGTAATGCAGGGT	0.383000													38	140					0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56412910	56412910	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr18:56412910G>A	ENST00000348428.3	+	16	2182	c.1924G>A	c.(1924-1926)Gat>Aat	p.D642N	MALT1_ENST00000345724.3_Missense_Mutation_p.D631N|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	642					activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TCTAGATATTGATCCAAAAGA	0.348000			T	BIRC3	MALT								3	25					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126329632	126329632	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr4:126329632A>T	ENST00000394329.3	+	4	5616	c.5603A>T	c.(5602-5604)gAt>gTt	p.D1868V	FAT4_ENST00000335110.5_Missense_Mutation_p.D166V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1868	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCACGGATGATGACTCTGGT	0.328000													7	81					0	0	1	0	0
CASP2	835	broad.mit.edu	37	7	142997328	142997328	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:142997328C>T	ENST00000310447.5	+	8	1149	c.908C>T	c.(907-909)gCc>gTc	p.A303V	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	303					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					TTTGACAACGCCAACTGCCCA	0.527000													7	79					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554054	140554054	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:140554054G>T	ENST00000231137.3	+	1	1812	c.1638G>T	c.(1636-1638)ctG>ctT	p.L546L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		546	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGAGGCGCTGGTGCGCGTGC	0.711000													5	64					0.217242	0.217242	1	1	0
ZBED6CL	113763	broad.mit.edu	37	7	150027807	150027807	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:150027807A>G	ENST00000343855.4	+	1	870	c.314A>G	c.(313-315)tAc>tGc	p.Y105C	LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron	NM_138434.2	NP_612443.1			ZBED6 C-terminal like																		GTCCTCGTGTACAAGGTGAAG	0.577000													10	73					0	0	1	0	0
CLNK	116449	broad.mit.edu	37	4	10542121	10542121	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr4:10542121G>T	ENST00000226951.6	-	11	838	c.599C>A	c.(598-600)cCc>cAc	p.P200H	CLNK_ENST00000442825.2_Missense_Mutation_p.P158H|CLNK_ENST00000507719.1_Missense_Mutation_p.P158H	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	200					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						CTCTCACCTGGGCATTCTCTG	0.522000													6	34					0.0293803	0.0299102	1	1	0
AGBL5	60509	broad.mit.edu	37	2	27278943	27278943	+	Silent	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:27278943T>C	ENST00000360131.4	+	7	1461	c.1302T>C	c.(1300-1302)caT>caC	p.H434H	AGBL5_ENST00000323064.8_Silent_p.H434H	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	434					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGACCTGCATGGACATGCTT	0.512000													30	239					0	0	1	0	0
SLC23A1	9963	broad.mit.edu	37	5	138716250	138716250	+	Missense_Mutation	SNP	C	C	A	rs142534689		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:138716250C>A	ENST00000353963.3	-	5	507	c.469G>T	c.(469-471)Ggt>Tgt	p.G157C	SLC23A1_ENST00000348729.3_Intron	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	156					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	ACATGCAAACCCACCTCCCGT	0.572000													12	42					1.61879e-10	2.11945e-10	1	1	0
KLHL32	114792	broad.mit.edu	37	6	97562130	97562130	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr6:97562130A>G	ENST00000369261.4	+	7	1462	c.1099A>G	c.(1099-1101)Act>Gct	p.T367A	KLHL32_ENST00000536676.1_Missense_Mutation_p.T331A|KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Missense_Mutation_p.T298A	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	367										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TGCTGTGAGGACTGCCTGTCG	0.572000													23	28					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7059831	7059831	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:7059831C>T	ENST00000299481.4	+	2	360	c.14C>T	c.(13-15)tCa>tTa	p.S5L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	5	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCAGATTCATCATCATCTTCT	0.368000													11	96					0	0	1	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185390392	185390392	+	Silent	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr3:185390392G>A	ENST00000382199.2	-	10	1232	c.1137C>T	c.(1135-1137)tcC>tcT	p.S379S	IGF2BP2_ENST00000421047.2_Silent_p.S322S|IGF2BP2_ENST00000346192.3_Intron|IGF2BP2_ENST00000494906.1_Intron|IGF2BP2_ENST00000457616.2_Silent_p.S385S	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	379					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GAGATAGCACGGACAGTCCTG	0.552000													13	15					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47042821	47042821	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr3:47042821G>A	ENST00000450053.3	+	29	4716	c.4537G>A	c.(4537-4539)Gtg>Atg	p.V1513M	NBEAL2_ENST00000292309.5_Missense_Mutation_p.V1329M|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1513							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGAGGCCCCCGTGGGGGTCCT	0.607000													25	33					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20070445	20070445	+	Silent	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:20070445G>A	ENST00000396085.1	+	15	4435	c.4074G>A	c.(4072-4074)aaG>aaA	p.K1358K	NAV2_ENST00000533917.1_Silent_p.K444K|NAV2_ENST00000396087.3_Silent_p.K1381K|NAV2_ENST00000360655.4_Silent_p.K1294K|NAV2_ENST00000527559.2_Silent_p.K1310K|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000540292.1_Silent_p.K1312K|NAV2_ENST00000311043.8_Silent_p.K444K|NAV2_ENST00000349880.4_Silent_p.K1358K	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1381						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCTACAGCAAGAATGTGGACC	0.612000													18	86					0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99366022	99366022	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:99366022T>C	ENST00000354593.2	-	2	278	c.175A>G	c.(175-177)Aag>Gag	p.K59E	CYP3A4_ENST00000336411.2_Missense_Mutation_p.K209E			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	209					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CTTAAAAGCTTCTTGGTGTTT	0.373000													14	100					0	0	1	0	0
CC2D2B	387707	broad.mit.edu	37	10	97773580	97773580	+	Silent	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr10:97773580T>C	ENST00000344386.3	+	5	518	c.354T>C	c.(352-354)ttT>ttC	p.F118F	RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.F118F|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000371198.2_Intron	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	118										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TGATTCCTTTTGTGCCTAATA	0.308000													19	26					0	0	1	0	0
RPS16	6217	broad.mit.edu	37	19	39924275	39924275	+	Missense_Mutation	SNP	T	T	C	rs11555713		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:39924275T>C	ENST00000339471.4	-	3	317	c.277A>G	c.(277-279)Agg>Ggg	p.R93G	RPS16_ENST00000599539.1_Intron|RPS16_ENST00000251453.3_Intron|RPS16_ENST00000601655.1_Intron			P62249	RS16_HUMAN	ribosomal protein S16	0					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2)	7	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGAGCCACCTCCTCCATGCG	0.567000													18	55					0	0	1	0	0
SMARCD2	6603	broad.mit.edu	37	17	61911557	61911557	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:61911557C>G	ENST00000448276.2	-	8	1318	c.1053G>C	c.(1051-1053)gaG>gaC	p.E351D	SMARCD2_ENST00000225742.9_Missense_Mutation_p.E276D|SMARCD2_ENST00000323347.10_Missense_Mutation_p.E303D	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	351	SWIB.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						AGTTGATGTACTCCCGCTCGT	0.602000											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	7					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28666625	28666625	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr18:28666625C>A	ENST00000280904.6	-	7	1299	c.856G>T	c.(856-858)Ggg>Tgg	p.G286W	DSC2_ENST00000251081.6_Missense_Mutation_p.G286W	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	286	Cadherin 2.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GGCACCTGCCCAATGATGGAG	0.473000													24	77					7.87624e-14	1.09321e-13	1	1	0
INTS4	92105	broad.mit.edu	37	11	77702195	77702195	+	Missense_Mutation	SNP	C	C	T	rs144227709		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:77702195C>T	ENST00000534064.1	-	2	239	c.205G>A	c.(205-207)Gta>Ata	p.V69I	INTS4_ENST00000529807.1_Missense_Mutation_p.V69I|INTS4_ENST00000527522.1_Missense_Mutation_p.V69I	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	69					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			ACTCCCTCTACGCTTTCCGCC	0.463000													14	88					0	0	1	0	0
REG3A	5068	broad.mit.edu	37	2	79385590	79385590	+	Splice_Site	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:79385590C>T	ENST00000393878.1	-	3	450		c.e3-1		REG3A_ENST00000409839.3_Splice_Site|REG3A_ENST00000305165.2_Splice_Site|AC011754.1_ENST00000415201.1_RNA	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha						acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.?(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GGCAGGCCAGCTTTGAGGGCA	0.567000													7	76					0	0	1	0	0
CKAP2	26586	broad.mit.edu	37	13	53049190	53049190	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr13:53049190A>T	ENST00000378037.5	+	9	2056	c.1966A>T	c.(1966-1968)Acg>Tcg	p.T656S	CKAP2_ENST00000490903.1_Missense_Mutation_p.T607S|CKAP2_ENST00000258607.5_Missense_Mutation_p.T655S	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	656					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		GGAACAGCTAACGGAGTTGGG	0.423000													23	90					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47955083	47955083	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:47955083C>G	ENST00000289672.2	-	8	1224	c.1174G>C	c.(1174-1176)Gaa>Caa	p.E392Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	392					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						tctgagtcttccaggcagctg	0.393000													17	88					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192250719	192250719	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:192250719A>G	ENST00000392318.3	+	16	1710	c.1463A>G	c.(1462-1464)cAt>cGt	p.H488R	MYO1B_ENST00000392316.1_Missense_Mutation_p.H488R|MYO1B_ENST00000339514.4_Missense_Mutation_p.H488R|MYO1B_ENST00000304164.4_Missense_Mutation_p.H488R	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	488	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ACCCACCAGCATTTTGAGAGC	0.522000													45	208					0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12186282	12186282	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:12186282T>G	ENST00000263932.2	+	12	1520	c.1298T>G	c.(1297-1299)cTa>cGa	p.L433R	TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000417814.2_Missense_Mutation_p.L322R|TNFRSF8_ENST00000413146.2_5'UTR	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	433					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCCCAAGCTAGAGCTTGTG	0.657000													11	75					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174447	207174447	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:207174447T>G	ENST00000374423.3	+	5	5581	c.5195T>G	c.(5194-5196)cTa>cGa	p.L1732R		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1732							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CGTTCGAAGCTAAAACATAGA	0.448000													6	64					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84659957	84659957	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr15:84659957C>A	ENST00000286744.5	+	23	4188	c.3964C>A	c.(3964-3966)Cct>Act	p.P1322T	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P1322T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1322	Ig-like C2-type 3.					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)			AATCCGATGTCCTGTAAAAGG	0.502000													75	99					8.27458e-37	1.3516e-36	1	1	0
ZNF618	114991	broad.mit.edu	37	9	116811305	116811305	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:116811305C>A	ENST00000288466.7	+	14	1543	c.1444C>A	c.(1444-1446)Cac>Aac	p.H482N	ZNF618_ENST00000374126.5_Missense_Mutation_p.H575N|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CGAGGGCAACCACATCAAGAG	0.597000													10	22					4.68919e-08	5.71249e-08	1	1	0
CPZ	8532	broad.mit.edu	37	4	8621184	8621184	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr4:8621184C>A	ENST00000429646.2	+	9	3416	c.623C>A	c.(622-624)cCc>cAc	p.P208H	CPZ_ENST00000360986.4_Missense_Mutation_p.P600H|CPZ_ENST00000382480.2_Missense_Mutation_p.P463H|CPZ_ENST00000315782.6_Missense_Mutation_p.P589H			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	600					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						AGGACTGGGCCCCACGACCCA	0.677000													15	27					1.2644e-06	1.48685e-06	1	1	0
CNR2	1269	broad.mit.edu	37	1	24202088	24202088	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:24202088G>T	ENST00000536471.1	-	3	278	c.20C>A	c.(19-21)aCa>aAa	p.T7K	CNR2_ENST00000374472.4_Missense_Mutation_p.T7K			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	7					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GGCTATCTCTGTCACCCAGCA	0.483000													41	93					9.39024e-22	1.45879e-21	1	1	0
OR2G2	81470	broad.mit.edu	37	1	247752559	247752559	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:247752559G>C	ENST00000320065.1	+	1	898	c.898G>C	c.(898-900)Gtg>Ctg	p.V300L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GATCAAGGAGGTGAAAGGGGC	0.368000													42	118					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114386709	114386709	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:114386709C>A	ENST00000545145.2	-	10	1283	c.1205G>T	c.(1204-1206)gGa>gTa	p.G402V	RBM19_ENST00000261741.5_Missense_Mutation_p.G402V|RBM19_ENST00000392561.3_Missense_Mutation_p.G402V	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	402	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					AAAGAGCCTTCCGGATTCGGC	0.582000													14	85					2.62699e-14	3.66624e-14	1	1	0
PCDHB3	56132	broad.mit.edu	37	5	140481673	140481673	+	Silent	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:140481673A>T	ENST00000231130.2	+	1	1440	c.1440A>T	c.(1438-1440)tcA>tcT	p.S480S	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		480	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGAGACTCAGGCACCAACG	0.647000													56	201					0	0	1	0	0
CEP78	84131	broad.mit.edu	37	9	80858483	80858483	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:80858483A>T	ENST00000424347.2	+	5	998	c.709A>T	c.(709-711)Aac>Tac	p.N237Y	CEP78_ENST00000415759.2_Missense_Mutation_p.N237Y|CEP78_ENST00000376597.4_Missense_Mutation_p.N237Y|CEP78_ENST00000376598.2_Missense_Mutation_p.N237Y|CEP78_ENST00000277082.5_Missense_Mutation_p.N237Y			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	237				CN -> GY (in Ref. 3; BAB14190).	G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						ACTGAATTGCAACACACTTAT	0.443000													12	51					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21201776	21201776	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:21201776C>G	ENST00000342679.4	+	2	350	c.101C>G	c.(100-102)cCc>cGc	p.P34R	MAP2K3_ENST00000361818.5_Missense_Mutation_p.P5R|MAP2K3_ENST00000316920.6_Missense_Mutation_p.P5R	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	34					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TCCAAGCCACCCGCACCCAAC	0.562000													19	122					0	0	1	0	0
PACS2	23241	broad.mit.edu	37	14	105814896	105814896	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr14:105814896G>T	ENST00000447393.1	+	2	361	c.186G>T	c.(184-186)gtG>gtT	p.V62V	PACS2_ENST00000458164.2_Silent_p.V62V|PACS2_ENST00000325438.8_Silent_p.V62V|PACS2_ENST00000430725.2_5'UTR|PACS2_ENST00000547217.1_Silent_p.V62V	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	62					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TGATCTCCGTGGTGATCGCTG	0.612000													15	49					0.000422831	0.000454119	1	1	0
ZNF733P	643955	broad.mit.edu	37	7	62751996	62751996	+	RNA	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:62751996C>G	ENST00000331425.6	-	0	1439					NR_003952.1																						TGTAGGGTTTCTCTCCAGTAT	0.398000													8	90					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655749	40655749	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:40655749C>A	ENST00000406785.1	-	2	1861	c.1672G>T	c.(1672-1674)Gtg>Ttg	p.V558L	SLC8A1_ENST00000542756.1_Missense_Mutation_p.V558L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.V558L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.V558L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V558L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.V558L|SLC8A1_ENST00000403092.1_Missense_Mutation_p.V558L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.V558L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.V558L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.V558L			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	558	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AATACTTTCACCTCCATGATG	0.458000													14	130					1.49906e-05	1.69227e-05	1	1	0
TMEM131	23505	broad.mit.edu	37	2	98409004	98409004	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:98409004G>A	ENST00000186436.5	-	31	4217	c.3989C>T	c.(3988-3990)tCc>tTc	p.S1330F		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1330	Pro-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTCTGGGTGGGAAGGGTGTGC	0.647000													4	27					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95081052	95081052	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr14:95081052C>T	ENST00000553947.1	+	5	1237	c.349C>T	c.(349-351)Cat>Tat	p.H117Y	SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393078.3_Missense_Mutation_p.H92Y|SERPINA3_ENST00000467132.1_Missense_Mutation_p.H92Y|SERPINA3_ENST00000393080.4_Missense_Mutation_p.H92Y			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	92					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TCTGGGGGCCCATAATACCAC	0.542000													14	86					0	0	1	0	0
KCNE4	23704	broad.mit.edu	37	2	223917638	223917638	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:223917638C>A	ENST00000281830.3	+	2	574	c.243C>A	c.(241-243)agC>agA	p.S81R	KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Missense_Mutation_p.S30R			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	30						integral to membrane	voltage-gated potassium channel activity			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCGGCGGCAGCGGCAATGGCA	0.597000													28	57					1.5548e-18	2.32305e-18	1	1	0
TP53	7157	broad.mit.edu	37	17	7576897	7576897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:7576897G>A	ENST00000420246.2	-	9	1081	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	TP53_ENST00000269305.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q317*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	317	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q317*(29)|p.0?(8)|p.Q317K(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317fs*28(1)|p.Q317fs*45(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCTTTGGCTGGGGAGAGGAG	0.473000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	37					0	0	1	0	0
ACTL7A	10881	broad.mit.edu	37	9	111625106	111625106	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:111625106G>T	ENST00000333999.3	+	1	504	c.504G>T	c.(502-504)ttG>ttT	p.L168F		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	168						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATGCGGTCTTGGTTTCAGACC	0.522000													18	61					1.33834e-09	1.72996e-09	1	1	0
PLCL1	5334	broad.mit.edu	37	2	198950576	198950576	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:198950576G>T	ENST00000428675.1	+	2	2733	c.2335G>T	c.(2335-2337)Gat>Tat	p.D779Y	PLCL1_ENST00000437704.2_Missense_Mutation_p.D681Y	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	779	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TCCTATTTTTGATGAAACTTT	0.388000													26	133					4.7796e-09	6.0701e-09	1	1	0
COX10-AS1	100874058	broad.mit.edu	37	17	13928410	13928410	+	RNA	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:13928410C>T	ENST00000602743.1	-	0	224																											TGGCCCTAACCCTGGAACTGA	0.622000													12	8					0	0	1	0	0
SSUH2	51066	broad.mit.edu	37	3	8672548	8672548	+	Silent	SNP	A	A	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr3:8672548A>C	ENST00000317371.4	-	13	1627	c.402T>G	c.(400-402)ccT>ccG	p.P134P	SSUH2_ENST00000415132.1_Silent_p.P134P|SSUH2_ENST00000544814.1_Silent_p.P156P|SSUH2_ENST00000341795.3_Silent_p.P134P					ssu-2 homolog (C. elegans)																		GAAACATCGGAGGACCTTGAA	0.532000													27	34					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98187196	98187196	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:98187196G>C	ENST00000370192.3	-	5	453	c.353C>G	c.(352-354)tCt>tGt	p.S118C	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000306031.5_Missense_Mutation_p.S118C|DPYD_ENST00000423006.2_Missense_Mutation_p.S81C	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	118					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGGGTTGTCAGAAAATATCAT	0.338000													19	108					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115760534	115760534	+	Splice_Site	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr4:115760534C>T	ENST00000264363.2	-	11	2964	c.2286_splice	c.e11+1	p.Q762_splice		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	762	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGGACATTACCTGAGAAGTAG	0.333000													16	82					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040344	31040344	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:31040344C>T	ENST00000355537.3	+	4	3965	c.3818C>T	c.(3817-3819)tCt>tTt	p.S1273F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.S1273F(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCTACAGTTCTGATGGCTTA	0.557000													8	53					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120876791	120876791	+	Silent	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:120876791A>T	ENST00000310396.5	+	17	2546	c.2079A>T	c.(2077-2079)ccA>ccT	p.P693P	CPED1_ENST00000450913.2_Silent_p.P693P|CPED1_ENST00000423795.1_Silent_p.P473P	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TGATTCATCCAGAGGAAACCT	0.333000													13	77					0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24931498	24931498	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr16:24931498G>C	ENST00000289968.6	-	20	2668	c.2599C>G	c.(2599-2601)Cgc>Ggc	p.R867G	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.R789G	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	867					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AGCAGGATGCGGCCAGGCACG	0.552000													15	75					0	0	1	0	0
TNFAIP1	7126	broad.mit.edu	37	17	26667374	26667374	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:26667374C>A	ENST00000226225.2	+	3	512	c.245C>A	c.(244-246)aCc>aAc	p.T82N	TNFAIP1_ENST00000544907.2_5'UTR|TNFAIP1_ENST00000583213.1_Intron	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	82	BTB.				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CACTTTGGCACCATTTTGAAT	0.522000													33	90					2.20262e-25	3.47494e-25	1	1	0
SLC22A23	63027	broad.mit.edu	37	6	3410511	3410511	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr6:3410511G>A	ENST00000436008.2	-	3	1286	c.824C>T	c.(823-825)gCa>gTa	p.A275V	SLC22A23_ENST00000406686.3_Missense_Mutation_p.A275V|SLC22A23_ENST00000380298.2_Missense_Mutation_p.A275V|SLC22A23_ENST00000380302.4_5'UTR|SLC22A23_ENST00000490273.1_5'UTR			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	275					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				CACTGACAGTGCCACAGTCAG	0.468000													14	28					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15290663	15290663	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr10:15290663C>A	ENST00000378116.4	-	5	735	c.729G>T	c.(727-729)gcG>gcT	p.A243A	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	243						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						ACCGCCACGCCGCGACATAGG	0.557000													12	57					0.00185496	0.00196726	1	1	0
PHLPP2	23035	broad.mit.edu	37	16	71703215	71703215	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr16:71703215C>G	ENST00000393524.2	-	10	2324	c.1591G>C	c.(1591-1593)Gat>Cat	p.D531H	PHLPP2_ENST00000568954.1_Missense_Mutation_p.D531H|PHLPP2_ENST00000356272.3_Missense_Mutation_p.D531H|PHLPP2_ENST00000567016.1_Missense_Mutation_p.D566H|PHLPP2_ENST00000360429.3_Missense_Mutation_p.D531H			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	531						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TAGCTCACATCTAATACTTCT	0.378000													10	70					0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27061972	27061972	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:27061972G>A	ENST00000268766.6	+	3	470	c.436G>A	c.(436-438)Ggt>Agt	p.G146S	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	146	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CGTCAAGATCGGTGATTTCGG	0.562000													14	119					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43606878	43606878	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr10:43606878C>G	ENST00000355710.3	+	7	1719	c.1487C>G	c.(1486-1488)gCc>gGc	p.A496G	RET_ENST00000340058.5_Missense_Mutation_p.A496G	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	496					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TCTAGGCAGGCCCAGGCCCAG	0.647000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				6	31					0	0	1	0	0
UNC45A	55898	broad.mit.edu	37	15	91490084	91490084	+	Silent	SNP	G	G	T	rs146865609		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr15:91490084G>T	ENST00000394275.2	+	13	2230	c.1395G>T	c.(1393-1395)tcG>tcT	p.S465S	UNC45A_ENST00000418476.2_Silent_p.S480S	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	480					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ATGGTGTCTCGCTGCTGAAGG	0.632000													39	30					4.00102e-26	6.33183e-26	1	1	0
SLC1A1	6505	broad.mit.edu	37	9	4573997	4573997	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:4573997G>T	ENST00000262352.3	+	8	1094	c.858G>T	c.(856-858)atG>atT	p.M286I		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	286					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	GCCTTTACATGGCCACAGTCC	0.453000													45	92					2.35958e-20	3.59961e-20	1	1	0
CLNK	116449	broad.mit.edu	37	4	10542120	10542120	+	Silent	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr4:10542120G>C	ENST00000226951.6	-	11	839	c.600C>G	c.(598-600)ccC>ccG	p.P200P	CLNK_ENST00000442825.2_Silent_p.P158P|CLNK_ENST00000507719.1_Silent_p.P158P	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	200					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TCTCTCACCTGGGCATTCTCT	0.522000													6	34					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20335184	20335184	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr16:20335184C>A	ENST00000302555.5	-	3	638	c.489G>T	c.(487-489)gtG>gtT	p.V163V	GP2_ENST00000381362.4_Silent_p.V163V|GP2_ENST00000341642.5_Intron|GP2_ENST00000381360.5_Intron			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	163						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCAACCGGTACACATGGTACC	0.572000													7	28					0.00198382	0.00208219	1	1	0
CPA2	1358	broad.mit.edu	37	7	129906730	129906730	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:129906730G>A	ENST00000222481.4	+	1	64	c.9G>A	c.(7-9)atG>atA	p.M3I		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	3					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CCATGGCCATGAGGTTGATCC	0.443000													29	117					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179527326	179527326	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr3:179527326A>G	ENST00000467460.1	-	12	1615	c.1285T>C	c.(1285-1287)Tac>Cac	p.Y429H	PEX5L_ENST00000472994.1_Missense_Mutation_p.Y370H|PEX5L_ENST00000468741.1_Missense_Mutation_p.Y237H|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.Y405H|PEX5L_ENST00000464614.1_Missense_Mutation_p.Y321H|PEX5L_ENST00000392649.3_Missense_Mutation_p.Y321H|PEX5L_ENST00000263962.8_Missense_Mutation_p.Y427H|PEX5L_ENST00000485199.1_Missense_Mutation_p.Y394H|PEX5L_ENST00000476138.1_Missense_Mutation_p.Y386H	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	429					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TTCACAAGGTATTTGTACTTT	0.463000													5	79					0	0	1	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250759	142250759	+	RNA	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:142250759C>T	ENST00000390360.3	-	0	308																											CAGACGCCAACGTGAGGGGGA	0.502000													9	115					0	0	1	0	0
TCF7	6932	broad.mit.edu	37	5	133477984	133477984	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:133477984C>G	ENST00000395029.1	+	6	939	c.744C>G	c.(742-744)ttC>ttG	p.F248L	TCF7_ENST00000321603.6_Missense_Mutation_p.F248L|TCF7_ENST00000432532.2_Missense_Mutation_p.F133L|TCF7_ENST00000395023.1_Missense_Mutation_p.F133L|TCF7_ENST00000520958.1_Missense_Mutation_p.F133L|TCF7_ENST00000378564.1_Missense_Mutation_p.F248L|TCF7_ENST00000378560.4_Missense_Mutation_p.F133L|TCF7_ENST00000321584.4_Missense_Mutation_p.F248L|TCF7_ENST00000342854.5_Missense_Mutation_p.F248L|TCF7_ENST00000518915.1_Missense_Mutation_p.F133L			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	248					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCAGCCCTTCGACCGCAACC	0.612000													4	41					0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99093342	99093342	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:99093342A>G	ENST00000357310.1	+	17	3038	c.2461A>G	c.(2461-2463)Atc>Gtc	p.I821V	APAF1_ENST00000547045.1_Missense_Mutation_p.I821V|APAF1_ENST00000549007.1_Missense_Mutation_p.I821V|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Missense_Mutation_p.I821V|APAF1_ENST00000359972.2_Missense_Mutation_p.I810V|APAF1_ENST00000551964.1_Missense_Mutation_p.I821V|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000550527.1_Missense_Mutation_p.I810V	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	821					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	AAAAAATAAAATCTTTGTAAG	0.328000													11	42					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179701812	179701812	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:179701812G>T	ENST00000420890.2	-	23	4251	c.4134C>A	c.(4132-4134)acC>acA	p.T1378T	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.T803T	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	803							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGCCCCTGCTGGTGCCTGATT	0.488000													9	41					0.000274275	0.000295821	1	1	0
DLK1	8788	broad.mit.edu	37	14	101200875	101200875	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr14:101200875C>T	ENST00000341267.4	+	5	1036	c.794C>T	c.(793-795)gCc>gTc	p.A265V	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	265					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TATGGGCTGGCCTACCGCCTG	0.637000													24	58					0	0	1	0	0
MCAM	4162	broad.mit.edu	37	11	119182639	119182639	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:119182639C>A	ENST00000392814.1	-	5	1740	c.1011G>T	c.(1009-1011)agG>agT	p.R337S	MCAM_ENST00000264036.4_Missense_Mutation_p.R388S			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	388	Ig-like C2-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GCACAGGCCCCCTTTCCAGCA	0.632000													22	101					2.39556e-15	3.39929e-15	1	1	0
TRPV6	55503	broad.mit.edu	37	7	142575012	142575012	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:142575012C>T	ENST00000359396.3	-	4	615	c.370G>A	c.(370-372)Gct>Act	p.A124T	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	124					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TTCACAACAGCGATGTGCAGT	0.627000													34	45					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1089150	1089150	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:1089150C>A	ENST00000264930.5	-	4	479	c.436G>T	c.(436-438)Ggg>Tgg	p.G146W		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	146					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCAGCCACCCCCACGATCCAC	0.657000													19	68					1.87028e-06	2.17914e-06	1	1	0
GBP5	115362	broad.mit.edu	37	1	89726426	89726426	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:89726426C>A	ENST00000343435.5	-	12	2258	c.1722G>T	c.(1720-1722)caG>caT	p.Q574H	GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Missense_Mutation_p.Q574H|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	574						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TAACAGTCCTCTGGGCGTGCT	0.403000													22	130					3.08376e-08	3.80231e-08	1	1	0
GPR32	2854	broad.mit.edu	37	19	51274268	51274268	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:51274268G>T	ENST00000270590.4	+	1	548	c.411G>T	c.(409-411)gtG>gtT	p.V137V		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	137						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TCATCTCTGTGGACCGTTGCA	0.612000													14	111					0.000219431	0.00024024	1	1	0
CSMD3	114788	broad.mit.edu	37	8	114326875	114326875	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr8:114326875G>C	ENST00000297405.5	-	2	570	c.326C>G	c.(325-327)tCa>tGa	p.S109*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S69*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S109*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S109*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	109	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAGAGCAAATGACTGAAAAAC	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	83					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495758	6495758	+	Missense_Mutation	SNP	C	C	T	rs145794132		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:6495758C>T	ENST00000264071.2	-	4	1123	c.752G>A	c.(751-753)cGc>cAc	p.R251H	TUBB4A_ENST00000540257.1_Missense_Mutation_p.R251H			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	251					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										GGCCAGCTTGCGCAGGTCGGC	0.682000													8	77					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52881579	52881579	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:52881579G>T	ENST00000330722.6	-	9	1688	c.1620C>A	c.(1618-1620)agC>agA	p.S540R		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	540	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCCAACAGAGCTGAGGCCAC	0.587000													26	46					2.48779e-11	3.2826e-11	1	1	0
DISP2	85455	broad.mit.edu	37	15	40659393	40659393	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr15:40659393C>T	ENST00000267889.3	+	8	1167	c.1080C>T	c.(1078-1080)gaC>gaT	p.D360D		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	360					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCCAAGCTGACGCAGCCCGCA	0.642000													13	82					0	0	1	0	0
SUPT7L	9913	broad.mit.edu	37	2	27880518	27880518	+	Silent	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:27880518C>G	ENST00000337768.5	-	4	1007	c.438G>C	c.(436-438)gtG>gtC	p.V146V	SUPT7L_ENST00000464789.2_Silent_p.V144V|SUPT7L_ENST00000404798.2_Silent_p.V11V|SUPT7L_ENST00000406540.1_Silent_p.V144V|SUPT7L_ENST00000405491.1_Silent_p.V144V	NM_014860.1	NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	146					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					TGAGTTCAGTCACAGGTTCCC	0.542000													9	39					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529061	57529061	+	Silent	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:57529061T>C	ENST00000420713.1	+	4	1006	c.894T>C	c.(892-894)tgT>tgC	p.C298C		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CCTACACATGTGAAGAATGTG	0.423000													11	38					0	0	1	0	0
KLHL32	114792	broad.mit.edu	37	6	97533105	97533105	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr6:97533105C>A	ENST00000369261.4	+	6	878	c.515C>A	c.(514-516)tCt>tAt	p.S172Y	KLHL32_ENST00000536676.1_Missense_Mutation_p.S136Y|KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Missense_Mutation_p.S103Y	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	172										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		AAACATCTCTCTGAACTCCTG	0.468000													11	68					2.80697e-09	3.60087e-09	1	1	0
FAM221A	340277	broad.mit.edu	37	7	23731012	23731012	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:23731012C>G	ENST00000344962.4	+	4	523	c.434C>G	c.(433-435)tCc>tGc	p.S145C	FAM221A_ENST00000409994.3_Missense_Mutation_p.S87C|FAM221A_ENST00000409653.1_Missense_Mutation_p.S87C|FAM221A_ENST00000409192.3_Missense_Mutation_p.S145C	NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN	family with sequence similarity 221, member A	145																	GATTCAGGTTCCAAGTGTTCA	0.438000													36	100					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100026089	100026089	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr8:100026089G>A	ENST00000395996.1	+	2	184	c.73G>A	c.(73-75)Gat>Aat	p.D25N	VPS13B_ENST00000357162.2_Missense_Mutation_p.D25N|VPS13B_ENST00000358544.2_Missense_Mutation_p.D25N|VPS13B_ENST00000441350.2_Missense_Mutation_p.D25N|VPS13B_ENST00000355155.1_Missense_Mutation_p.D25N			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	25					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAAGCCGTCGGATCTACAGCT	0.428000													50	211					0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41796779	41796779	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr15:41796779C>T	ENST00000263800.6	-	18	2276	c.2180G>A	c.(2179-2181)cGc>cAc	p.R727H	LTK_ENST00000355166.5_Missense_Mutation_p.R666H|LTK_ENST00000453182.2_Missense_Mutation_p.R597H|LTK_ENST00000561619.1_Missense_Mutation_p.R425H	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	727	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CTGGTTGGTGCGCCCAGGATA	0.627000										TSP Lung(18;0.14)			18	73					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25488790	25488790	+	RNA	SNP	T	T	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr15:25488790T>G	ENST00000453082.2	+	0	2332				SNORD115-40_ENST00000606510.1_RNA	NR_003343.1																						TATATTTTCCTGAAGAGAGGT	0.512000													51	277					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767742	31767742	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:31767742C>G	ENST00000240587.4	-	2	3284	c.2957G>C	c.(2956-2958)aGg>aCg	p.R986T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	986					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGAAGGAGTCCTGATTTGGGA	0.483000													11	56					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4941886	4941886	+	Nonsense_Mutation	SNP	C	C	A	rs139811413		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr16:4941886C>A	ENST00000345988.2	-	16	1983	c.1894G>T	c.(1894-1896)Gag>Tag	p.E632*	PPL_ENST00000590782.2_Nonsense_Mutation_p.E630*	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	632					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGATGGTTCTCGTGTGTGGCC	0.622000													5	85					0.0215528	0.0220298	1	1	0
ZNF560	147741	broad.mit.edu	37	19	9578992	9578992	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:9578992C>T	ENST00000301480.4	-	10	844	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TAGAGTTCCTCTCCATTTTGG	0.363000													17	41					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141802436	141802436	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:141802436A>T	ENST00000475668.2	+	69	8024	c.7970A>T	c.(7969-7971)tAt>tTt	p.Y2657F	MGAM_ENST00000549489.2_Missense_Mutation_p.Y1761F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1761					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCAGATACCTATGGGAAAGGA	0.423000													4	21					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153078536	153078536	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:153078536A>G	ENST00000285900.5	+	10	1698	c.1355A>G	c.(1354-1356)tAc>tGc	p.Y452C	GRIA1_ENST00000518142.1_Missense_Mutation_p.Y372C|GRIA1_ENST00000448073.4_Missense_Mutation_p.Y462C|GRIA1_ENST00000518783.1_Missense_Mutation_p.Y462C|GRIA1_ENST00000521843.2_Missense_Mutation_p.Y383C|GRIA1_ENST00000340592.5_Missense_Mutation_p.Y452C	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	452					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CACGTGGGCTACTCCTACCGT	0.537000													17	27					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725316	87725316	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr6:87725316G>T	ENST00000305344.4	+	2	967	c.264G>T	c.(262-264)tgG>tgT	p.W88C	HTR1E_ENST00000369584.1_Missense_Mutation_p.W88C	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	88					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TGGATCGCTGGAAGCTTGGGT	0.562000													17	78					1.99824e-07	2.37729e-07	1	1	0
OR7A17	26333	broad.mit.edu	37	19	14991763	14991763	+	Silent	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:14991763G>A	ENST00000327462.2	-	1	501	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					GAGGGTTCATGATGACTGTGT	0.488000													49	45					0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89167225	89167225	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr16:89167225G>T	ENST00000317447.4	+	3	513	c.136G>T	c.(136-138)Gtg>Ttg	p.V46L	ACSF3_ENST00000406948.3_Missense_Mutation_p.V46L|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	46					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GAGCGCCCCGGTGTTCACCCG	0.677000													24	15					2.44723e-14	3.43424e-14	1	1	0
PARN	5073	broad.mit.edu	37	16	14540779	14540779	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr16:14540779T>A	ENST00000437198.2	-	23	1971	c.1830A>T	c.(1828-1830)aaA>aaT	p.K610N	PARN_ENST00000341484.7_Missense_Mutation_p.K549N|PARN_ENST00000539279.1_Missense_Mutation_p.K435N|PARN_ENST00000420015.2_Missense_Mutation_p.K564N	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	610					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TTCTTTTTAATTTCTTGGCCT	0.488000													18	62					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305743	54305743	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr15:54305743G>T	ENST00000545554.1	+	1	643	c.643G>T	c.(643-645)Gac>Tac	p.D215Y	UNC13C_ENST00000260323.11_Missense_Mutation_p.D215Y|UNC13C_ENST00000537900.1_Missense_Mutation_p.D215Y			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	215					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TAAGTCTTTGGACAGAACTGT	0.423000													32	50					2.46105e-21	3.77708e-21	1	1	0
PRIM2	5558	broad.mit.edu	37	6	57398165	57398165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr6:57398165C>T	ENST00000607273.1	+	10	955	c.868C>T	c.(868-870)Cag>Tag	p.Q290*	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	290					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTACATGCATCAGTTACATAA	0.388000													21	107					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142649608	142649608	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:142649608C>A	ENST00000355265.2	-	10	1665	c.1191G>T	c.(1189-1191)gaG>gaT	p.E397D	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	397					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGGGTGGTTGCTCTGTCAGTT	0.532000													12	66					0.000219431	0.00024024	1	1	0
SPATA5	166378	broad.mit.edu	37	4	123900432	123900432	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr4:123900432C>A	ENST00000274008.3	+	10	1829	c.1760C>A	c.(1759-1761)cCt>cAt	p.P587H	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	587					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CCTAACCTCCCTGATGTCAAG	0.423000													16	38					2.31682e-05	2.60386e-05	1	1	0
PPM1E	22843	broad.mit.edu	37	17	57057803	57057803	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:57057803A>G	ENST00000308249.2	+	7	1808	c.1679A>G	c.(1678-1680)cAa>cGa	p.Q560R		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	569					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			CCAGGGTCCCAAATCAACGTG	0.527000													29	62					0	0	1	0	0
STT3A	3703	broad.mit.edu	37	11	125478177	125478177	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:125478177G>T	ENST00000392708.4	+	9	1113	c.954G>T	c.(952-954)atG>atT	p.M318I	STT3A_ENST00000529196.1_Missense_Mutation_p.M318I|STT3A_ENST00000531491.1_Missense_Mutation_p.M226I	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	318					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		CTCTCCTCATGCTGACAGGTA	0.488000													35	76					1.90571e-15	2.71176e-15	1	1	0
TMEM245	23731	broad.mit.edu	37	9	111798569	111798569	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:111798569T>A	ENST00000374586.3	-	16	2347	c.2316A>T	c.(2314-2316)ttA>ttT	p.L772F		NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN	transmembrane protein 245	772						integral to membrane											CCTTGCATCCTAACCCTTGTG	0.448000													8	49					0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3040232	3040232	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:3040232C>T	ENST00000448120.2	+	6	573	c.522C>T	c.(520-522)gcC>gcT	p.A174A	TULP3_ENST00000397132.2_Silent_p.A174A	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	174				TSGSATAAQPADNL -> IPVLLLPPNQLITF (in Ref. 1).	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)			CTGCTACTGCCGCCCAACCAG	0.488000													38	105					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142612512	142612512	+	Silent	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:142612512T>C	ENST00000265310.1	-	10	1599	c.1251A>G	c.(1249-1251)ggA>ggG	p.G417G		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	417					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GAATCGTCTTTCCAAAATAGC	0.507000													29	91					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21069086	21069086	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:21069086G>T	ENST00000381545.3	+	16	2233	c.2014G>T	c.(2014-2016)Gaa>Taa	p.E672*	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000261196.2_Nonsense_Mutation_p.E672*	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	672					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AGCAAACTTAGAATTCTTAAA	0.318000													41	40					3.61848e-18	5.39058e-18	1	1	0
GALNT5	11227	broad.mit.edu	37	2	158115649	158115649	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:158115649G>T	ENST00000259056.4	+	1	1540	c.1055G>T	c.(1054-1056)gGt>gTt	p.G352V		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	352					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AAAGTATTGGGTAAAAGCCAA	0.393000													26	95					3.6726e-16	5.28522e-16	1	1	0
CACNA2D1	781	broad.mit.edu	37	7	81598227	81598227	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:81598227G>T	ENST00000356860.3	-	29	2709	c.2371C>A	c.(2371-2373)Caa>Aaa	p.Q791K	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.Q803K|CACNA2D1_ENST00000535308.1_Intron	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	803						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AGTTTCCCTTGAATATATATT	0.289000													12	109					3.07112e-06	3.55382e-06	1	1	0
SEPT10	151011	broad.mit.edu	37	2	110325451	110325451	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:110325451G>A	ENST00000356688.4	-	6	1018	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	SEPT10_ENST00000397712.2_Nonsense_Mutation_p.Q235*|SEPT10_ENST00000334001.6_Nonsense_Mutation_p.Q102*|SEPT10_ENST00000415095.1_Nonsense_Mutation_p.Q235*|SEPT10_ENST00000397714.2_Nonsense_Mutation_p.Q212*|SEPT10_ENST00000545389.1_Nonsense_Mutation_p.Q68*|SEPT10_ENST00000437928.1_Nonsense_Mutation_p.Q220*			Q9P0V9	SEP10_HUMAN	septin 10	235					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGGTATATCTGGACGCCATTG	0.393000													17	93					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73844552	73844552	+	Missense_Mutation	SNP	T	T	C	rs138239571		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:73844552T>C	ENST00000334126.7	-	6	1232	c.1006A>G	c.(1006-1008)Atg>Gtg	p.M336V	C2CD3_ENST00000313663.7_Missense_Mutation_p.M336V|C2CD3_ENST00000539061.1_Missense_Mutation_p.M336V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	336						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTTGATTTCATTGCAGAAATC	0.403000													6	52					0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42992768	42992768	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:42992768G>T	ENST00000253408.5	-	1	152	c.87C>A	c.(85-87)cgC>cgA	p.R29R	GFAP_ENST00000586793.1_Silent_p.R29R|GFAP_ENST00000435360.2_Silent_p.R29R|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	29	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GACCCAGACGGCGGCCAGGAG	0.672000													4	31					1.024e-07	1.23855e-07	1	1	0
CMAS	55907	broad.mit.edu	37	12	22208542	22208542	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:22208542G>T	ENST00000229329.2	+	3	687	c.557G>T	c.(556-558)gGa>gTa	p.G186V		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	186					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						ATTCAGAAAGGAGGTAATCTC	0.343000													31	44					2.46105e-21	3.77708e-21	1	1	0
CTAGE5	4253	broad.mit.edu	37	14	39815112	39815112	+	Silent	SNP	A	A	G	rs146750332		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr14:39815112A>G	ENST00000553728.1	+	25	3654	c.3441A>G	c.(3439-3441)caA>caG	p.Q1147Q	CTAGE5_ENST00000341749.3_Silent_p.Q600Q|CTAGE5_ENST00000556148.1_Silent_p.Q537Q|CTAGE5_ENST00000396165.4_Silent_p.Q583Q|CTAGE5_ENST00000280083.3_Silent_p.Q612Q|CTAGE5_ENST00000341502.5_Silent_p.Q612Q|CTAGE5_ENST00000396158.2_Silent_p.Q617Q|CTAGE5_ENST00000557038.1_Silent_p.Q532Q|CTAGE5_ENST00000348007.3_Silent_p.Q569Q|RP11-407N17.3_ENST00000603904.1_Silent_p.Q583Q|CTAGE5_ENST00000553352.1_Silent_p.Q583Q																							TTCTAGGACAATCATATCCTG	0.328000													8	39					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57379371	57379371	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:57379371C>T	ENST00000403558.1	+	6	1706	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M	SERPING1_ENST00000378324.2_Missense_Mutation_p.T352M|SERPING1_ENST00000378323.4_Missense_Mutation_p.T409M|SERPING1_ENST00000340687.6_Missense_Mutation_p.T367M|SERPING1_ENST00000278407.4_Missense_Mutation_p.T404M	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	404					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						ATCAAAGTGACGACCAGCCAG	0.527000													24	75					0	0	1	0	0
CCL18	6362	broad.mit.edu	37	17	34391718	34391718	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:34391718G>T	ENST00000004921.3	+	1	79	c.16G>T	c.(16-18)Gct>Tct	p.A6S		NM_002988.2	NP_002979.1	P55774	CCL18_HUMAN	chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)	6					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to biotic stimulus|signal transduction	extracellular space	chemokine activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGGCCTTGCAGCTGCCCTCCT	0.582000													25	109					5.45024e-15	7.71232e-15	1	1	0
DNAJC14	85406	broad.mit.edu	37	12	56222188	56222188	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:56222188T>A	ENST00000357606.3	-	3	544	c.255A>T	c.(253-255)agA>agT	p.R85S	DNAJC14_ENST00000317269.3_Missense_Mutation_p.R85S|DNAJC14_ENST00000317287.5_Missense_Mutation_p.R85S			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	85					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CCTCTGCATCTCTAGGTGGTC	0.557000													32	213					0	0	1	0	0
IGHA1	3493	broad.mit.edu	37	14	106174744	106174744	+	RNA	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr14:106174744C>T	ENST00000390547.2	-	0	258																											TAGTGCTTCACGTGGCATGTC	0.677000													4	47					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433095	40433095	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:40433095A>T	ENST00000221347.6	-	2	1181	c.1174T>A	c.(1174-1176)Tcg>Acg	p.S392T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	392	IgGFc-binding.					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)			TCAGCATACGAGAACTCACTG	0.612000													8	28					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159652923	159652923	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr6:159652923C>G	ENST00000297267.9	+	11	1579	c.1379C>G	c.(1378-1380)gCg>gGg	p.A460G	FNDC1_ENST00000340366.6_Missense_Mutation_p.A397G	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	460						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCAGTAAGGCGGATGTTGAG	0.488000													4	19					0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30091719	30091719	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr13:30091719T>A	ENST00000380752.5	-	10	1887	c.1501A>T	c.(1501-1503)Agc>Tgc	p.S501C	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	501					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	p.S501G(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCTATGAGGCTGGTTGAAATG	0.488000													31	99					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763201	77763201	+	Silent	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr8:77763201G>A	ENST00000521891.2	+	10	4492	c.4044G>A	c.(4042-4044)caG>caA	p.Q1348Q	ZFHX4_ENST00000050961.6_Silent_p.Q1303Q|ZFHX4_ENST00000455469.2_Silent_p.Q1303Q|ZFHX4_ENST00000518282.1_Silent_p.Q1322Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1303						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGAGGAGCAGAAACCGACTA	0.408000										HNSCC(33;0.089)			6	19					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177250481	177250481	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:177250481C>T	ENST00000361539.4	+	8	2481	c.2169C>T	c.(2167-2169)ctC>ctT	p.L723L	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		723						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TCATTGAGCTCAGGGACCGGG	0.537000													24	179					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45361945	45361945	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:45361945C>T	ENST00000560629.1	+	4	463	c.463C>T	c.(463-465)Cca>Tca	p.P155S	ITGB3_ENST00000559488.1_Silent_p.T166T|ITGB3_ENST00000435993.2_Silent_p.T119T|ITGB3_ENST00000571680.1_Silent_p.T166T			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	AGCTGGCCACCCAGATGCGAA	0.532000													43	124					0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20585973	20585973	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr14:20585973C>G	ENST00000315543.4	+	1	408	c.408C>G	c.(406-408)caC>caG	p.H136Q		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTCTCCTTCACTTACTGGGTG	0.433000													33	137					0	0	1	0	0
RGS11	8786	broad.mit.edu	37	16	321439	321439	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr16:321439C>A	ENST00000397770.3	-	11	725	c.708G>T	c.(706-708)gcG>gcT	p.A236A	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Silent_p.A225A|RGS11_ENST00000316163.5_Silent_p.A215A			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	236	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCCTGCCCAGCGCTTTCCTGA	0.647000													17	41					9.16793e-09	1.14995e-08	1	1	0
BRD8	10902	broad.mit.edu	37	5	137501759	137501759	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:137501759C>A	ENST00000254900.5	-	11	1407	c.1036G>T	c.(1036-1038)Ggg>Tgg	p.G346W	BRD8_ENST00000230901.5_Missense_Mutation_p.G419W|BRD8_ENST00000402931.1_Missense_Mutation_p.G346W|BRD8_ENST00000411594.2_Missense_Mutation_p.G349W|BRD8_ENST00000455658.2_Missense_Mutation_p.G305W	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	346					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGTGGATCCCCCACAGCCTCC	0.463000													36	66					5.71845e-15	8.06937e-15	1	1	0
C20orf85	128602	broad.mit.edu	37	20	56735869	56735869	+	Silent	SNP	C	C	A	rs140824842		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr20:56735869C>A	ENST00000371168.3	+	4	466	c.405C>A	c.(403-405)ggC>ggA	p.G135G		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	135										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			CCAAGCAGGGCGTGCACTGAA	0.602000													16	23					4.14922e-12	5.54685e-12	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745595	77745595	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:77745595C>A	ENST00000409088.3	-	3	1814	c.1400G>T	c.(1399-1401)cGg>cTg	p.R467L	LRRTM4_ENST00000409282.1_Missense_Mutation_p.R468L|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R467L|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R468L|LRRTM4_ENST00000409093.1_Missense_Mutation_p.R467L	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	467						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGCCTTTTTCCGCCGCCTCTT	0.463000													20	39					4.96729e-08	6.0368e-08	1	1	0
KAT2A	2648	broad.mit.edu	37	17	40269943	40269943	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:40269943C>A	ENST00000225916.5	-	8	1326	c.1273G>T	c.(1273-1275)Ggg>Tgg	p.G425W		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	425					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GGCTCGGCCCCTGCAGAATCC	0.582000													3	26					0.00024832	0.000270121	1	1	0
AMH	268	broad.mit.edu	37	19	2251711	2251711	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:2251711C>T	ENST00000221496.3	+	5	2104	c.1438C>T	c.(1438-1440)Ccc>Tcc	p.P480S		NM_000479.3	NP_000470.2	P03971	MIS_HUMAN	anti-Mullerian hormone	480					cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|positive regulation of gene expression|sex determination	extracellular space	growth factor activity|hormone activity			lung(2)	2		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)		CGTACTCATCCCCGAGACCTA	0.716000									Persistant Mullerian Duct Syndrome (type I and II)				8	22					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428882	179428882	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:179428882T>G	ENST00000589042.1	-	326	82201	c.81977A>C	c.(81976-81978)aAa>aCa	p.K27326T	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K24758T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K18386T|TTN_ENST00000460472.2_Missense_Mutation_p.K18261T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K25685T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K18453T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25685	Fibronectin type-III 99.						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)			AATAGTAGATTTAATTTCCAT	0.378000													25	197					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22188551	22188551	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:22188551C>A	ENST00000374695.3	-	38	4877	c.4798G>T	c.(4798-4800)Gga>Tga	p.G1600*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1600	Laminin EGF-like 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GTGGCATCTCCGTAGTAGCCA	0.622000													34	45					8.4185e-14	1.16212e-13	1	1	0
ARHGEF28	64283	broad.mit.edu	37	5	72980702	72980702	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:72980702C>T	ENST00000545377.1	+	2	202	c.26C>T	c.(25-27)cCt>cTt	p.P9L	ARHGEF28_ENST00000513042.2_Missense_Mutation_p.P9L|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.P9L|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.P9L|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.P9L|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.P9L	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		AGCGAAGCACCTCTTTACGTA	0.478000													4	32					0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68822749	68822749	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:68822749C>G	ENST00000294309.3	+	4	459	c.358C>G	c.(358-360)Ccg>Gcg	p.P120A	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.P120A	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	120					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCCCTGGGAGCCGCCCTGCGG	0.637000													14	88					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322196	55322196	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:55322196C>T	ENST00000314644.2	+	1	414	c.414C>T	c.(412-414)tcC>tcT	p.S138S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTGTAGACTCCCTCTATGTGA	0.488000										HNSCC(20;0.049)			25	172					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52841232	52841232	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:52841232T>C	ENST00000371568.3	-	15	2391	c.2173A>G	c.(2173-2175)Atc>Gtc	p.I725V	ORC1_ENST00000371566.1_Missense_Mutation_p.I725V	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	725	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CGCCTGCAGATGTCCAGGCAC	0.532000													31	55					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155157978	155157978	+	Silent	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:155157978T>A	ENST00000392825.3	+	9	1599	c.1032T>A	c.(1030-1032)gtT>gtA	p.V344V	GALNT13_ENST00000409237.1_Silent_p.V344V|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	344	Catalytic subdomain B.					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						TTGGTCATGTTTTTCGGAAGG	0.408000													10	212					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57349265	57349265	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:57349265C>A	ENST00000361249.3	+	6	862	c.766C>A	c.(766-768)Cca>Aca	p.P256T		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	256	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CGGCATAGGCCCAGCCGGCAG	0.408000													13	70					5.50884e-06	6.28874e-06	1	1	0
NLRP10	338322	broad.mit.edu	37	11	7982770	7982770	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:7982770G>A	ENST00000328600.2	-	2	550	c.389C>T	c.(388-390)cCc>cTc	p.P130L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	130							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCTGAGCTGGGCTTGGCCAC	0.562000													13	44					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51013224	51013224	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr18:51013224T>C	ENST00000442544.2	+	26	4410	c.3794T>C	c.(3793-3795)cTc>cCc	p.L1265P	DCC_ENST00000581580.1_Missense_Mutation_p.L900P|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1265					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCAGGAATCCTCCCGTCTCCC	0.537000													9	90					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096268	167096268	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:167096268C>T	ENST00000361200.2	+	6	2066	c.1900C>T	c.(1900-1902)Cgg>Tgg	p.R634W	DUSP27_ENST00000443333.1_Missense_Mutation_p.R634W|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R634W			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	634					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGAGAGAAGCCGGCAGACGCT	0.637000													4	24					0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100906881	100906881	+	Splice_Site	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:100906881G>C	ENST00000393437.3	-	10	2398	c.1757_splice	c.e10-1	p.L587_splice	LONRF2_ENST00000409647.1_Splice_Site_p.L344_splice	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	587	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TACTCTGAAAGCCTGAAAAGA	0.433000													36	70					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737448	248737448	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:248737448G>T	ENST00000328782.2	-	1	632	c.611C>A	c.(610-612)aCg>aAg	p.T204K		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T204K(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCACAGGTACGTGAGCATCTT	0.517000													91	430					2.37326e-55	3.92709e-55	1	1	0
SATL1	340562	broad.mit.edu	37	X	84362581	84362581	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chrX:84362581C>A	ENST00000509231.1	-	1	1473	c.1394G>T	c.(1393-1395)aGt>aTt	p.S465I	SATL1_ENST00000395409.3_Missense_Mutation_p.S278I|SATL1_ENST00000332921.5_Missense_Mutation_p.S278I			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	278	N-acetyltransferase.|Substrate binding (By similarity).						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TTGGTTCTTACTTGATTGGCT	0.582000													16	54					1.37285e-15	1.95902e-15	1	1	0
PAPSS2	9060	broad.mit.edu	37	10	89503231	89503231	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr10:89503231C>T	ENST00000361175.4	+	10	1678	c.1309C>T	c.(1309-1311)Ccg>Tcg	p.P437S	PAPSS2_ENST00000456849.1_Missense_Mutation_p.P442S|PAPSS2_ENST00000427144.2_Missense_Mutation_p.P441S	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	437					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CTACAAGCACCCGGTCCTCCT	0.607000													12	80					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74312911	74312911	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:74312911C>G	ENST00000377044.4	-	20	4126	c.3587G>C	c.(3586-3588)gGc>gCc	p.G1196A	TMEM2_ENST00000377066.5_Missense_Mutation_p.G1133A|TMEM2_ENST00000396272.3_Missense_Mutation_p.G189A	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1196						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CTGCCGAGTGCCACAGCCTTG	0.483000													16	33					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73850139	73850139	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr8:73850139G>A	ENST00000523207.1	+	3	3137	c.2549G>A	c.(2548-2550)aGt>aAt	p.S850N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	850					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAAGAGGGCAGTGTGGGCTCT	0.532000													24	71					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176759022	176759022	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:176759022C>A	ENST00000367662.3	+	18	5957	c.4793C>A	c.(4792-4794)cCc>cAc	p.P1598H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1598	Sushi 4.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTGAGCCACCCCCTCCTGTG	0.478000													29	104					2.48779e-11	3.2826e-11	1	1	0
KRTAP21-1	337977	broad.mit.edu	37	21	32127668	32127668	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr21:32127668C>A	ENST00000335093.3	-	1	78	c.29G>T	c.(28-30)tGt>tTt	p.C10F		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	10						intermediate filament				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						gccatagccacagGAGTTGCC	0.532000													80	106					1.43161e-34	2.32351e-34	1	1	0
MAD2L2	10459	broad.mit.edu	37	1	11737658	11737658	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:11737658G>A	ENST00000235310.3	-	6	1101	c.173C>T	c.(172-174)cCg>cTg	p.P58L	MAD2L2_ENST00000376667.3_Missense_Mutation_p.P58L|MAD2L2_ENST00000376669.5_Missense_Mutation_p.P58L|MAD2L2_ENST00000376672.1_Missense_Mutation_p.P58L|MAD2L2_ENST00000376692.4_Missense_Mutation_p.P58L			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	58	HORMA.|Mediates interaction with REV1 and REV3L and homodimerization.				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTCAGCTCCGGGTGGCAGGA	0.597000								DNA polymerases (catalytic subunits)					9	40					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131913175	131913175	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:131913175G>A	ENST00000359827.3	-	6	2620	c.1658C>T	c.(1657-1659)tCg>tTg	p.S553L	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S553L			Q9HCM2	PLXA4_HUMAN	plexin A4	553	PSI 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTTCATCTCCGAGGCAAACCT	0.607000													4	33					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16942660	16942660	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr10:16942660C>G	ENST00000377833.4	-	53	8439	c.8374G>C	c.(8374-8376)Ggt>Cgt	p.G2792R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2792	CUB 20.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAAAATCCACCACCTTGCAAT	0.368000													31	75					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470122	10470122	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr8:10470122C>G	ENST00000382483.3	-	4	1709	c.1486G>C	c.(1486-1488)Gga>Cga	p.G496R		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	496					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGCTCCCTCCAGCTTTCCGC	0.706000													13	34					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50547497	50547497	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:50547497G>T	ENST00000444124.2	-	10	1209	c.1009C>A	c.(1009-1011)Cat>Aat	p.H337N	DDC_ENST00000426377.1_Missense_Mutation_p.H259N|DDC_ENST00000431062.1_Missense_Mutation_p.H244N|DDC_ENST00000357936.5_Missense_Mutation_p.H337N	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	337					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GAATCCTGATGGCTGTGCTTC	0.507000													8	75					7.48243e-07	8.83971e-07	1	1	0
LPHN3	23284	broad.mit.edu	37	4	62598771	62598771	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr4:62598771G>T	ENST00000512091.1	+	7	1441	c.694G>T	c.(694-696)Gat>Tat	p.D232Y	LPHN3_ENST00000506720.1_Missense_Mutation_p.D300Y|LPHN3_ENST00000508946.1_Missense_Mutation_p.D232Y|LPHN3_ENST00000506700.1_Missense_Mutation_p.D232Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.D232Y|LPHN3_ENST00000509896.1_Missense_Mutation_p.D300Y|LPHN3_ENST00000514996.1_Missense_Mutation_p.D232Y|LPHN3_ENST00000507625.1_Missense_Mutation_p.D300Y|LPHN3_ENST00000514157.1_Missense_Mutation_p.D232Y|LPHN3_ENST00000514591.1_Missense_Mutation_p.D232Y|LPHN3_ENST00000545650.1_Missense_Mutation_p.D232Y|LPHN3_ENST00000507164.1_Missense_Mutation_p.D300Y|LPHN3_ENST00000511324.1_Missense_Mutation_p.D300Y|LPHN3_ENST00000506746.1_Missense_Mutation_p.D300Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.D300Y			Q9HAR2	LPHN3_HUMAN	latrophilin 3	232	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AGTAAAGTTTGATTTGCGGAC	0.458000													5	29					0.0215528	0.0220298	1	1	0
TRPM1	4308	broad.mit.edu	37	15	31320551	31320551	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr15:31320551G>T	ENST00000542188.1	-	24	3641	c.3328C>A	c.(3328-3330)Ctg>Atg	p.L1110M	RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.L1071M|TRPM1_ENST00000256552.6_Missense_Mutation_p.L1093M	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1071					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACAGCAATCAGCAGGTTCACC	0.512000													7	45					5.18039e-06	5.95393e-06	1	1	0
FAM53C	51307	broad.mit.edu	37	5	137681066	137681066	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:137681066G>T	ENST00000239906.5	+	4	1117	c.689G>T	c.(688-690)cGc>cTc	p.R230L	FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000434981.2_Missense_Mutation_p.R230L	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	230										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCTCAGCGCCGCTTCTCCCTG	0.672000													60	78					7.10663e-31	1.14246e-30	1	1	0
STARD6	147323	broad.mit.edu	37	18	51858176	51858176	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr18:51858176G>C	ENST00000580990.2	-	3	263	c.43C>G	c.(43-45)Ccc>Gcc	p.P15A	STARD6_ENST00000581310.1_Silent_p.S107S|STARD6_ENST00000307844.3_Silent_p.S107S			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	217	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		AGTCTCGAGGGGAAATGGAGC	0.368000													10	51					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111594549	111594549	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:111594549C>T	ENST00000304987.3	+	15	2650	c.2477C>T	c.(2476-2478)cCa>cTa	p.P826L		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	826					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						ccgccaccgccaccaccccct	0.662000													9	56					0	0	1	0	0
UGT1A4	54657	broad.mit.edu	37	2	234627778	234627778	+	Silent	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:234627778A>G	ENST00000373409.3	+	1	355	c.312A>G	c.(310-312)gaA>gaG	p.E104E	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		TTGAAACAGAACATCTTCTGA	0.433000													104	127					0	0	1	0	0
TRBV7-4	28594	broad.mit.edu	37	7	142176420	142176420	+	RNA	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:142176420C>T	ENST00000390369.2	-	0	255																											GGCCTCTCTGCAGAGAACCGA	0.582000													7	67					0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135116431	135116431	+	Splice_Site	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:135116431C>A	ENST00000393229.3	+	7	2133	c.1357_splice	c.e7+1	p.P453_splice	NTNG2_ENST00000490694.1_3'UTR|NTNG2_ENST00000360670.3_Splice_Site_p.P459_splice|NTNG2_ENST00000393228.4_Splice_Site_p.P445_splice	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	453	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGGCTGCTACCGTGAGTGCGC	0.761000													4	18					0.150653	0.151849	1	1	0
PDCD11	22984	broad.mit.edu	37	10	105166456	105166456	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr10:105166456C>T	ENST00000369797.3	+	7	873	c.779C>T	c.(778-780)tCa>tTa	p.S260L		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	260					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTTGGTCACTCAGAGGTTTCT	0.478000													13	64					0	0	1	0	0
RGS8	85397	broad.mit.edu	37	1	182640815	182640815	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:182640815C>A	ENST00000483095.2	-	0	131				RGS8_ENST00000258302.4_Missense_Mutation_p.Q19H|RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367557.4_De_novo_Start_OutOfFrame|RGS8_ENST00000367556.1_De_novo_Start_OutOfFrame			P57771	RGS8_HUMAN	regulator of G-protein signaling 8						negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						TCCTCATGGCCTGAGGGTCTT	0.463000													29	59					4.40665e-25	6.93058e-25	1	1	0
TLL2	7093	broad.mit.edu	37	10	98180730	98180730	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr10:98180730G>T	ENST00000357947.3	-	7	1131	c.906C>A	c.(904-906)gcC>gcA	p.A302A	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	302	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGGTGTTCCGGGCGTAGTGCA	0.507000													38	152					2.40579e-17	3.5322e-17	1	1	0
PCDHB10	56126	broad.mit.edu	37	5	140572515	140572515	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:140572515G>T	ENST00000239446.4	+	1	574	c.390G>T	c.(388-390)gcG>gcT	p.A130A		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		130	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGATCACGCGCCAGTATTTC	0.423000													50	61					1.86633e-21	2.89054e-21	1	1	0
KIAA1958	158405	broad.mit.edu	37	9	115421717	115421717	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:115421717A>T	ENST00000337530.6	+	4	1815	c.1519A>T	c.(1519-1521)Acc>Tcc	p.T507S	KIAA1958_ENST00000536272.1_Missense_Mutation_p.T535S	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	507										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CAGCTCCTCCACCAAGAAACT	0.582000													4	30					0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240985297	240985297	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:240985297A>T	ENST00000319423.4	-	1	192	c.193T>A	c.(193-195)Tcc>Acc	p.S65T		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AAAGACATGGAGCTCAGAAAG	0.557000													20	66					0	0	1	0	0
UBXN4	23190	broad.mit.edu	37	2	136536537	136536537	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:136536537G>T	ENST00000272638.9	+	11	1384	c.1073G>T	c.(1072-1074)gGt>gTt	p.G358V	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	358	UBX.				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AACACTTACGGTAATTTTTCG	0.348000													15	90					1.52009e-12	2.05374e-12	1	1	0
TLR4	7099	broad.mit.edu	37	9	120474958	120474958	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:120474958C>A	ENST00000355622.6	+	3	653	c.552C>A	c.(550-552)agC>agA	p.S184R	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.S144R	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	184					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ACCTTTCCAGCAACAAGATTC	0.383000													27	89					9.39395e-14	1.28629e-13	1	1	0
KIF4B	285643	broad.mit.edu	37	5	154395457	154395457	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:154395457C>T	ENST00000435029.4	+	1	2198	c.2038C>T	c.(2038-2040)Cgt>Tgt	p.R680C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	680	Interaction with PRC1 (By similarity).		R -> H (in dbSNP:rs17116710).		axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGAACGAGACCGTAAGAGGCA	0.433000													46	57					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32624242	32624242	+	Silent	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr21:32624242G>A	ENST00000286827.3	-	6	1698	c.1227C>T	c.(1225-1227)agC>agT	p.S409S	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Silent_p.S409S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	409					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCTGCTCATCGCTGTGCGCCG	0.701000													6	55					0	0	1	0	0
MRPS17	51373	broad.mit.edu	37	7	56022736	56022736	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:56022736C>T	ENST00000285298.4	+	3	387	c.258C>T	c.(256-258)ttC>ttT	p.F86F	MRPS17_ENST00000426595.1_Silent_p.F181F	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17	86					translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGATCGTTTTCAAAGTTGGAA	0.478000													27	179					0	0	1	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45568182	45568182	+	RNA	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:45568182C>T	ENST00000256692.5	-	0	503					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTTCAGCAAACTCTTTATCCT	0.473000													19	83					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18847769	18847769	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr16:18847769T>C	ENST00000446231.2	-	47	8102	c.7690A>G	c.(7690-7692)Ata>Gta	p.I2564V	SMG1_ENST00000389467.3_Missense_Mutation_p.I2564V			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2564					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TAATGTGTTATCCATTGTTCA	0.428000													21	63					0	0	1	0	0
SNTA1	6640	broad.mit.edu	37	20	32026748	32026748	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr20:32026748C>G	ENST00000217381.2	-	2	666	c.395G>C	c.(394-396)gGg>gCg	p.G132A		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	132	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						GATGGCATCCCCCACAAAAAG	0.547000													12	181					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640527	7640527	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:7640527G>C	ENST00000359156.4	-	7	1779	c.1577C>G	c.(1576-1578)tCt>tGt	p.S526C	CD163_ENST00000396620.3_Missense_Mutation_p.S526C|CD163_ENST00000541972.1_Missense_Mutation_p.S514C|CD163_ENST00000432237.2_Missense_Mutation_p.S526C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	526	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCCCAGGATAGAGACAACTGT	0.527000													8	70					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179547582	179547582	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:179547582T>G	ENST00000589042.1	-	135	33160	c.32936A>C	c.(32935-32937)gAa>gCa	p.E10979A	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9735A|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10662A|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10662	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAAACAGCTTCTTCTTCTAG	0.328000													15	37					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069370	9069370	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:9069370G>A	ENST00000397910.4	-	3	18279	c.18076C>T	c.(18076-18078)Cat>Tat	p.H6026Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6028	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACAGAGGAATGTAGTTTATGC	0.453000													41	122					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50699530	50699530	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:50699530T>A	ENST00000404971.1	-	17	4609	c.3270A>T	c.(3268-3270)caA>caT	p.Q1090H	NRXN1_ENST00000401710.1_Missense_Mutation_p.Q59H|NRXN1_ENST00000405472.3_Missense_Mutation_p.Q1042H|NRXN1_ENST00000406316.2_Missense_Mutation_p.Q1050H|NRXN1_ENST00000401669.2_Missense_Mutation_p.Q1050H|NRXN1_ENST00000406859.3_Missense_Mutation_p.Q1050H|NRXN1_ENST00000402717.3_Missense_Mutation_p.Q1042H|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1050	EGF-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCAGGCAGCCTTGAAAGCCTT	0.428000													8	50					0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5957452	5957452	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr10:5957452G>T	ENST00000379999.5	+	10	1740	c.1636G>T	c.(1636-1638)Gca>Tca	p.A546S	FBXO18_ENST00000362091.4_Missense_Mutation_p.A495S|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379994.1_Missense_Mutation_p.A232S	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	495					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CAAGAGCATCGCAAAGCAGGC	0.547000													10	49					0.000442599	0.000474347	1	1	0
MYL7	58498	broad.mit.edu	37	7	44179170	44179170	+	Splice_Site	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:44179170T>A	ENST00000458240.1	-	5	585		c.e5-2		MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000223364.3_Splice_Site			Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory						actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						TGCTTGAACCTGGGGGGTGAG	0.632000													15	84					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42266914	42266914	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr22:42266914A>T	ENST00000361204.4	+	4	908	c.742A>T	c.(742-744)Atc>Ttc	p.I248F		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	248	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCCTCAGATCATCAAGACAGA	0.493000													9	117					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114386710	114386710	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:114386710C>A	ENST00000545145.2	-	10	1282	c.1204G>T	c.(1204-1206)Gga>Tga	p.G402*	RBM19_ENST00000261741.5_Nonsense_Mutation_p.G402*|RBM19_ENST00000392561.3_Nonsense_Mutation_p.G402*	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	402	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					AAGAGCCTTCCGGATTCGGCC	0.587000													14	86					2.62699e-14	3.66624e-14	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79318455	79318455	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:79318455A>T	ENST00000428286.1	-	9	8197	c.6997T>A	c.(6997-6999)Tct>Act	p.S2333T	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S2692T			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2692					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACTGGACCAGAGGCTTCCTCT	0.542000													13	81					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459841	142459841	+	Nonsense_Mutation	SNP	C	C	A	rs141847266	by1000genomes	TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:142459841C>A	ENST00000486171.1	+	4	476	c.459C>A	c.(457-459)tgC>tgA	p.C153*	PRSS1_ENST00000311737.7_Nonsense_Mutation_p.C139*			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	139	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GCACGAAGTGCCTCATCTCTG	0.562000													27	85					7.41945e-09	9.35256e-09	1	1	0
PDCL	5082	broad.mit.edu	37	9	125582562	125582562	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:125582562C>T	ENST00000259467.4	-	4	873	c.708G>A	c.(706-708)ctG>ctA	p.L236L		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	236					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TATAGATCAGCAGGGCAGGAA	0.517000													24	67					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52366085	52366085	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr8:52366085C>A	ENST00000356297.4	-	10	1343	c.1243G>T	c.(1243-1245)Gta>Tta	p.V415L	PXDNL_ENST00000543296.1_Missense_Mutation_p.V415L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	415					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATACCTTGTACAATTATGTTT	0.408000													9	39					1.76689e-08	2.21079e-08	1	1	0
COL4A5	1287	broad.mit.edu	37	X	107939545	107939545	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chrX:107939545G>T	ENST00000328300.6	+	53	5257	c.5013G>T	c.(5011-5013)acG>acT	p.T1671T	COL4A5_ENST00000361603.2_Silent_p.T1665T	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1665	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGTCAGAAACGCTGAAAGCAG	0.348000									Alport syndrome with Diffuse Leiomyomatosis				16	20					5.35267e-07	6.33836e-07	1	1	0
TPRX1	284355	broad.mit.edu	37	19	48305244	48305244	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:48305244C>A	ENST00000535759.1	-	4	1314	c.1315G>T	c.(1315-1317)Gac>Tac	p.D439Y	TPRX1_ENST00000543508.1_Missense_Mutation_p.D332Y|TPRX1_ENST00000322175.3_Missense_Mutation_p.D342Y			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	342						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GGCAAGAAGTCGGAGGCATCG	0.612000													12	55					9.31168e-06	1.05824e-05	1	1	0
GJA4	2701	broad.mit.edu	37	1	35260515	35260515	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:35260515G>A	ENST00000342280.4	+	2	789	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	234					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTGCTGTGTCGCTGCCTCAGC	0.602000													8	48					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139737644	139737644	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr8:139737644G>T	ENST00000303045.6	-	24	2625	c.2179C>A	c.(2179-2181)Ccg>Acg	p.P727T	COL22A1_ENST00000435777.1_Missense_Mutation_p.P727T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	727	Collagen-like 5.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAACCTCCCGGTCCAGGGGGG	0.582000										HNSCC(7;0.00092)			26	44					1.5548e-18	2.32305e-18	1	1	0
ADCY2	108	broad.mit.edu	37	5	7820692	7820692	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:7820692C>A	ENST00000338316.4	+	24	3102	c.3013C>A	c.(3013-3015)Cct>Act	p.P1005T	ADCY2_ENST00000537121.1_Missense_Mutation_p.P825T	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1005					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TAACCATGGACCTGTGATAGC	0.423000													5	41					0.00116845	0.00124178	1	1	0
TRBV6-5	28602	broad.mit.edu	37	7	142180772	142180772	+	RNA	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:142180772G>C	ENST00000390368.2	-	0	152																											TCAGGACCTGGAATTTTGGGG	0.532000													36	157					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321418	56321418	+	Silent	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:56321418G>A	ENST00000443188.1	-	5	1268	c.558C>T	c.(556-558)ctC>ctT	p.L186L	NLRP11_ENST00000589824.2_Silent_p.L186L|NLRP11_ENST00000589093.1_Silent_p.L186L|NLRP11_ENST00000360133.3_Silent_p.L186L|NLRP11_ENST00000592953.1_Silent_p.L87L	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	186	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CGTGAGCAGTGAGGTGAACGA	0.502000													13	30					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48177639	48177639	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:48177639A>G	ENST00000418331.2	+	21	3758	c.3406A>G	c.(3406-3408)Att>Gtt	p.I1136V		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1136	Tyrosine-protein phosphatase.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATATGCCATCATTATGTTGAC	0.323000													10	138					0	0	1	0	0
CMAS	55907	broad.mit.edu	37	12	22208541	22208541	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:22208541G>T	ENST00000229329.2	+	3	686	c.556G>T	c.(556-558)Gga>Tga	p.G186*		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	186					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						AATTCAGAAAGGAGGTAATCT	0.343000													31	43					2.46105e-21	3.77708e-21	1	1	0
CHRM2	1129	broad.mit.edu	37	7	136699780	136699780	+	Silent	SNP	C	C	G	rs78847341		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:136699780C>G	ENST00000445907.2	+	3	696	c.168C>G	c.(166-168)acC>acG	p.T56T	AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Silent_p.T56T|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Silent_p.T56T|CHRM2_ENST00000397608.3_Silent_p.T56T|CHRM2_ENST00000401861.1_Silent_p.T56T|CHRM2_ENST00000402486.3_Silent_p.T56T	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	56					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ACCTCCAGACCGTCAACAATT	0.458000													31	142					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119976997	119976997	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:119976997G>T	ENST00000313400.4	-	3	755	c.655C>A	c.(655-657)Ctg>Atg	p.L219M	ASTN2_ENST00000361209.2_Missense_Mutation_p.L219M|ASTN2_ENST00000373996.3_Missense_Mutation_p.L219M|ASTN2_ENST00000361477.3_De_novo_Start_InFrame			O75129	ASTN2_HUMAN	astrotactin 2	219						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACCAGCAGCAGCAGCAGCAGC	0.602000													5	36					0.014758	0.0152379	1	1	0
CPZ	8532	broad.mit.edu	37	4	8621185	8621185	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr4:8621185C>A	ENST00000429646.2	+	9	3417	c.624C>A	c.(622-624)ccC>ccA	p.P208P	CPZ_ENST00000360986.4_Silent_p.P600P|CPZ_ENST00000382480.2_Silent_p.P463P|CPZ_ENST00000315782.6_Silent_p.P589P			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	600					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						GGACTGGGCCCCACGACCCAC	0.677000													16	28					1.87028e-06	2.17914e-06	1	1	0
NPY5R	4889	broad.mit.edu	37	4	164271568	164271568	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr4:164271568A>G	ENST00000515560.1	+	4	1665	c.143A>G	c.(142-144)tAt>tGt	p.Y48C	NPY5R_ENST00000506953.1_Missense_Mutation_p.Y48C|NPY5R_ENST00000338566.3_Missense_Mutation_p.Y48C			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	48					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTGGGCTCTATACATTTGTA	0.388000													20	132					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78443862	78443862	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:78443862G>A	ENST00000397909.2	+	10	2286	c.2113G>A	c.(2113-2115)Ggg>Agg	p.G705R	NAV3_ENST00000228327.6_Missense_Mutation_p.G705R|NAV3_ENST00000266692.7_Missense_Mutation_p.G705R|NAV3_ENST00000536525.2_Missense_Mutation_p.G705R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	705						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGTCTTCGTGGGACTCAGAT	0.333000										HNSCC(70;0.22)			7	49					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128192773	128192773	+	Silent	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr10:128192773G>A	ENST00000284694.7	-	3	1116	c.996C>T	c.(994-996)ggC>ggT	p.G332G	C10orf90_ENST00000454341.1_Silent_p.G332G|C10orf90_ENST00000356858.3_Silent_p.G285G|C10orf90_ENST00000544758.1_Silent_p.G429G|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Silent_p.G285G	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	332										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TCCAGCGCTGGCCTACGAGGT	0.547000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	73					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56469916	56469916	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr6:56469916G>T	ENST00000370754.5	-	39	9410	c.9411C>A	c.(9409-9411)ttC>ttA	p.F3137L	DST_ENST00000312431.6_Missense_Mutation_p.F2959L|DST_ENST00000361203.3_Missense_Mutation_p.F2959L|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.F2959L|DST_ENST00000446842.2_Missense_Mutation_p.F2633L			Q03001	DYST_HUMAN	dystonin	2959					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTCCATCAGTGAATGACTCCT	0.348000													13	19					0.00010058	0.000111317	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139190849	139190849	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr8:139190849G>T	ENST00000395297.1	-	10	1128	c.958C>A	c.(958-960)Cag>Aag	p.Q320K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	320										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCAGGAACTGGGTCCACAGA	0.527000										HNSCC(54;0.14)			9	48					5.4927e-09	6.95834e-09	1	1	0
PROM1	8842	broad.mit.edu	37	4	16000077	16000077	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr4:16000077C>A	ENST00000505450.1	-	14	2198	c.1586G>T	c.(1585-1587)tGg>tTg	p.W529L	PROM1_ENST00000543373.1_Missense_Mutation_p.W529L|PROM1_ENST00000447510.2_Missense_Mutation_p.W538L|PROM1_ENST00000508167.1_Missense_Mutation_p.W529L|PROM1_ENST00000539194.1_Missense_Mutation_p.W538L|PROM1_ENST00000510224.1_Missense_Mutation_p.W538L|PROM1_ENST00000540805.1_Missense_Mutation_p.W538L	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	538					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ATAGTATTCCCAGTCTTCATT	0.294000													4	15					0.00024832	0.000270121	1	1	0
USH2A	7399	broad.mit.edu	37	1	215847560	215847560	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:215847560A>C	ENST00000366943.2	-	63	14079	c.13693T>G	c.(13693-13695)Tat>Gat	p.Y4565D	USH2A_ENST00000307340.3_Missense_Mutation_p.Y4565D			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4565	Fibronectin type-III 31.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGAGGGTATAATTGATGATA	0.403000										HNSCC(13;0.011)			8	163					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33956991	33956991	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:33956991A>G	ENST00000361328.3	+	6	1286	c.1133A>G	c.(1132-1134)tAt>tGt	p.Y378C	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.Y324C	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	378					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CAATGTCGCTATAGGGTCAAA	0.577000													21	113					0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44782260	44782260	+	Silent	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:44782260A>T	ENST00000266534.3	+	8	1477	c.1350A>T	c.(1348-1350)cgA>cgT	p.R450R	TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Silent_p.R346R	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	450						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		GAATCACTCGAGAAAACACCC	0.423000													12	133					0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58025111	58025111	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:58025111A>C	ENST00000341156.4	-	3	839	c.255T>G	c.(253-255)agT>agG	p.S85R	B4GALNT1_ENST00000552350.1_Missense_Mutation_p.S85R|B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000550764.1_Missense_Mutation_p.S85R|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.S85R	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	85					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGCCCCCCCCACTGGACTCAC	0.582000													17	102					0	0	1	0	0
DES	1674	broad.mit.edu	37	2	220285636	220285636	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:220285636C>G	ENST00000373960.3	+	5	1070	c.984C>G	c.(982-984)atC>atG	p.I328M		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	328	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GACACCAGATCCAGTCCTACA	0.602000													14	20					0	0	1	0	0
ACOT7	11332	broad.mit.edu	37	1	6387461	6387461	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:6387461C>A	ENST00000361521.4	-	5	1514	c.523G>T	c.(523-525)Gag>Tag	p.E175*	ACOT7_ENST00000545482.1_Nonsense_Mutation_p.E70*|ACOT7_ENST00000377845.3_Nonsense_Mutation_p.E155*|ACOT7_ENST00000377842.3_Nonsense_Mutation_p.E134*|ACOT7_ENST00000377855.2_Nonsense_Mutation_p.E185*|ACOT7_ENST00000541130.1_Nonsense_Mutation_p.E155*	NM_007274.3	NP_009205.3	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	185						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		TCCTCCTGCTCCTGCCGGGAA	0.637000													5	33					0.000602214	0.000641352	1	1	0
MORN5	254956	broad.mit.edu	37	9	124936822	124936822	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:124936822G>T	ENST00000536616.1	+	4	393	c.355G>T	c.(355-357)Ggc>Tgc	p.G119C	MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000373764.3_Missense_Mutation_p.G119C			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	119										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						AATCCCCAAGGGCTATTACGA	0.463000													10	99					4.68919e-08	5.71249e-08	1	1	0
HEPHL1	341208	broad.mit.edu	37	11	93822121	93822121	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:93822121G>A	ENST00000315765.9	+	12	2289	c.2281G>A	c.(2281-2283)Gca>Aca	p.A761T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	761	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCACGTGGACGCAAGAGGGGA	0.542000													9	74					0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79954652	79954652	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:79954652G>T	ENST00000306729.7	+	7	960	c.863G>T	c.(862-864)gGc>gTc	p.G288V	ASPSCR1_ENST00000580534.1_Missense_Mutation_p.G211V|ASPSCR1_ENST00000306739.4_Missense_Mutation_p.G288V	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	288							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TCCAAGTCGGGCCAGGATCCC	0.647000			T	TFE3	alveolar soft part sarcoma								16	138					5.01169e-05	5.59547e-05	1	1	0
RASGRP3	25780	broad.mit.edu	37	2	33747028	33747028	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:33747028C>T	ENST00000403687.3	+	7	1115	c.375C>T	c.(373-375)tcC>tcT	p.S125S	RASGRP3_ENST00000407811.1_Silent_p.S125S|RASGRP3_ENST00000402538.3_Silent_p.S125S	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	125	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ATAGTCCTTCCTATGACTGGA	0.443000													27	101					0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47315804	47315804	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr13:47315804C>G	ENST00000389798.3	+	19	2205	c.2008C>G	c.(2008-2010)Ctg>Gtg	p.L670V	LRCH1_ENST00000389797.3_Missense_Mutation_p.L705V|LRCH1_ENST00000311191.6_Intron	NM_015116.2	NP_055931.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	670	CH.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GTGTGACATCCTGCAGTTGGA	0.517000													93	337					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38991770	38991770	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr3:38991770C>A	ENST00000450244.1	-	1	282	c.84G>T	c.(82-84)gaG>gaT	p.E28D	SCN11A_ENST00000456224.3_Missense_Mutation_p.E28D|SCN11A_ENST00000444237.2_Missense_Mutation_p.E28D|SCN11A_ENST00000302328.3_Missense_Mutation_p.E28D			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	28					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAATCCGCTTCTCAATTGCAG	0.512000													6	110					8.12818e-05	9.01554e-05	1	1	0
TUBB8	347688	broad.mit.edu	37	10	93213	93213	+	Silent	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr10:93213G>A	ENST00000447903.2	-	4	1218	c.903C>T	c.(901-903)gcC>gcT	p.A301A	TUBB8_ENST00000309812.4_Silent_p.A373A			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	373					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GTTCCTGGATGGCCGTATTAT	0.537000													22	104					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1168816	1168816	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:1168816T>C	ENST00000308624.5	+	8	667	c.538T>C	c.(538-540)Tcc>Ccc	p.S180P	SNTG2_ENST00000407292.1_Intron|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	180					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAGTGGGGCCTCCTCTCCCCT	0.473000													43	199					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153182019	153182019	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:153182019A>G	ENST00000285900.5	+	15	2832	c.2489A>G	c.(2488-2490)tAc>tGc	p.Y830C	GRIA1_ENST00000518142.1_Missense_Mutation_p.Y750C|GRIA1_ENST00000448073.4_Missense_Mutation_p.Y840C|GRIA1_ENST00000518783.1_Missense_Mutation_p.Y840C|GRIA1_ENST00000521843.2_Missense_Mutation_p.Y761C|GRIA1_ENST00000340592.5_Missense_Mutation_p.Y830C	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	830					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAGTTCTGCTACAAATCCCGT	0.532000													85	78					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670208	158670208	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:158670208G>C	ENST00000359610.2	-	1	278	c.235C>G	c.(235-237)Cca>Gca	p.P79A		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGCATCTTTGGGATTGTGGCT	0.463000													18	132					0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144662698	144662698	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr8:144662698G>C	ENST00000532741.1	-	6	2066	c.1838C>G	c.(1837-1839)tCc>tGc	p.S613C	EEF1D_ENST00000423316.2_Missense_Mutation_p.S563C|EEF1D_ENST00000317198.6_Missense_Mutation_p.S197C|EEF1D_ENST00000395119.3_Missense_Mutation_p.S197C|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000526838.1_Missense_Mutation_p.S178C|EEF1D_ENST00000419152.2_Missense_Mutation_p.S197C|EEF1D_ENST00000524624.1_Missense_Mutation_p.S173C|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000529272.1_Missense_Mutation_p.S197C|EEF1D_ENST00000528610.1_Missense_Mutation_p.S173C|EEF1D_ENST00000531621.1_Missense_Mutation_p.S154C|EEF1D_ENST00000442189.2_Missense_Mutation_p.S563C			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	197					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CAGCAGGATGGAGGACTTGGC	0.667000													19	44					0	0	1	0	0
CSNK1G3	1456	broad.mit.edu	37	5	122893250	122893250	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr5:122893250G>T	ENST00000395412.1	+	4	1000	c.281G>T	c.(280-282)gGa>gTa	p.G94V	CSNK1G3_ENST00000361991.2_Missense_Mutation_p.G94V|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.G94V|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.G94V|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.G94V|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.G94V|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.G94V|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.G19V	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	94	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AAGCAGTTAGGATCTGGAGGT	0.294000													28	13					2.12542e-12	2.86396e-12	1	1	0
TNR	7143	broad.mit.edu	37	1	175292530	175292530	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:175292530A>T	ENST00000367674.1	-	23	4748	c.4040T>A	c.(4039-4041)cTc>cAc	p.L1347H	TNR_ENST00000263525.2_Missense_Mutation_p.L1347H|RP3-518E13.2_ENST00000569593.1_RNA	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1347					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCCTGCCATGAGACGGTGGTT	0.468000													12	112					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56388492	56388492	+	Missense_Mutation	SNP	C	C	T	rs147716168		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:56388492C>T	ENST00000301295.6	+	8	3078	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	NLRP4_ENST00000346986.5_Missense_Mutation_p.R830W|NLRP4_ENST00000587891.1_Missense_Mutation_p.R811W	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	886							ATP binding	p.R886W(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTGTTGTGTCGGGCTCTGAC	0.498000													12	116					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894335	123894335	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr11:123894335G>T	ENST00000375024.1	+	1	616	c.616G>T	c.(616-618)Gcc>Tcc	p.A206S		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGGCTAGTGGCCTCGGGCTG	0.547000													27	181					3.6726e-16	5.28522e-16	1	1	0
ARNTL2	56938	broad.mit.edu	37	12	27571064	27571064	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:27571064G>T	ENST00000544915.1	+	15	1826	c.1607G>T	c.(1606-1608)gGg>gTg	p.G536V	ARNTL2_ENST00000546179.1_Intron|ARNTL2_ENST00000266503.5_Missense_Mutation_p.G570V|ARNTL2_ENST00000311001.5_Missense_Mutation_p.G556V|ARNTL2_ENST00000261178.5_Missense_Mutation_p.G522V|ARNTL2_ENST00000395901.2_Missense_Mutation_p.G533V|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000542388.1_Missense_Mutation_p.G485V	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	570					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TCTGAAATGGGGGAGCTAGAG	0.458000													11	84					5.50884e-06	6.28874e-06	1	1	0
RNF213	57674	broad.mit.edu	37	17	78321620	78321620	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:78321620C>T	ENST00000582970.1	+	29	9628	c.9485C>T	c.(9484-9486)cCc>cTc	p.P3162L	RNF213_ENST00000508628.2_Missense_Mutation_p.P3211L|RNF213_ENST00000336301.6_Missense_Mutation_p.P1235L	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)			AAACACTTTCCCATCCCCCTC	0.547000													7	61					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125963	12125963	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr6:12125963G>T	ENST00000379388.2	+	4	6267	c.5935G>T	c.(5935-5937)Ggt>Tgt	p.G1979C		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1979					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAATCCACTCGGTTTGCCCAC	0.418000													60	55					6.176e-18	9.50427e-18	1	1	0
CRHR1	1394	broad.mit.edu	37	17	43912021	43912021	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:43912021G>T	ENST00000314537.5	+	13	1364	c.1139G>T	c.(1138-1140)cGg>cTg	p.R380L	CRHR1_ENST00000293493.7_Missense_Mutation_p.R205L|CRHR1_ENST00000339069.5_Missense_Mutation_p.G234C|CRHR1_ENST00000352855.5_Missense_Mutation_p.R340L|CRHR1_ENST00000577353.1_Missense_Mutation_p.R366L|CRHR1_ENST00000398285.3_Missense_Mutation_p.R409L	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	409					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		AGGTGGCACCGGTGGCAGGAC	0.657000													13	37					0.0167234	0.0173404	1	1	0
TTLL9	164395	broad.mit.edu	37	20	30525286	30525286	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr20:30525286C>A	ENST00000375938.4	+	13	1345	c.1092C>A	c.(1090-1092)acC>acA	p.T364T	TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000375921.2_3'UTR|TTLL9_ENST00000310998.4_Silent_p.T329T|TTLL9_ENST00000535842.1_Silent_p.T364T|TTLL9_ENST00000375922.4_Silent_p.T306T			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	364	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGGAAGACACCCTGCATGTTG	0.582000													7	26					2.0095e-06	2.37405e-06	1	1	0
HRNR	388697	broad.mit.edu	37	1	152192519	152192519	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:152192519C>A	ENST00000368801.2	-	3	1661	c.1586G>T	c.(1585-1587)gGa>gTa	p.G529V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	529					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCGGCTGTGTCCCAAAGATTG	0.567000													20	410					1.15919e-05	1.33119e-05	1	1	0
C7orf33	202865	broad.mit.edu	37	7	148288075	148288075	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:148288075C>A	ENST00000307003.2	+	1	419	c.58C>A	c.(58-60)Ccc>Acc	p.P20T		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	20										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACTTCCAGGCCCCCAATGTGA	0.562000													11	61					2.80697e-09	3.70105e-09	1	1	0
ITGB6	3694	broad.mit.edu	37	2	160964351	160964351	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:160964351G>A	ENST00000283249.2	-	14	2344	c.2107C>T	c.(2107-2109)Ccg>Tcg	p.P703S	ITGB6_ENST00000409967.2_Missense_Mutation_p.P596S|ITGB6_ENST00000428609.2_Missense_Mutation_p.P661S|ITGB6_ENST00000409872.1_Missense_Mutation_p.P703S			P18564	ITB6_HUMAN	integrin, beta 6	703					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GGAGGCTTCGGACAATCTGCA	0.403000													10	56					0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47360146	47360146	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:47360146C>T	ENST00000545968.1	-	23	2287	c.2233G>A	c.(2233-2235)Gat>Aat	p.D745N	MYBPC3_ENST00000256993.4_Missense_Mutation_p.D744N|MYBPC3_ENST00000399249.2_Missense_Mutation_p.D745N	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	744	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		ACGCCCTCATCTTCCTTCTCT	0.647000													13	25					0	0	1	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55246763	55246763	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:55246763C>A	ENST00000291860.1	+	6	1011	c.993C>A	c.(991-993)gtC>gtA	p.V331V	KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	331						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CCTCAGTGGTCATCATCCCCT	0.478000													39	80					1.61572e-30	2.72176e-30	1	1	0
RPTN	126638	broad.mit.edu	37	1	152127445	152127445	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:152127445G>T	ENST00000316073.3	-	3	2194	c.2130C>A	c.(2128-2130)ggC>ggA	p.G710G		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	710	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AAGTTTGATGGCCCTGCTCTT	0.567000													194	196					4.35673e-71	7.60291e-71	1	1	0
CDH26	60437	broad.mit.edu	37	20	58571591	58571591	+	Translation_Start_Site	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr20:58571591A>T	ENST00000350849.6	+	0	163				CDH26_ENST00000348616.4_Intron|CDH26_ENST00000244049.3_De_novo_Start_OutOfFrame|CDH26_ENST00000244047.5_Intron|CDH26_ENST00000497614.1_Intron	NM_021810.4	NP_068582.2	Q8IXH8	CAD26_HUMAN	cadherin 26						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)			ttgccAGTTCATGACTGAGTT	0.408000													17	117					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612644	20612644	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr14:20612644G>T	ENST00000333629.1	+	1	750	c.750G>T	c.(748-750)atG>atT	p.M250I		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TATTTCTCATGTTTGGACCTG	0.438000													140	201					9.15414e-77	1.60273e-76	1	1	0
CLCN6	1185	broad.mit.edu	37	1	11866328	11866328	+	Silent	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:11866328G>A	ENST00000346436.6	+	1	61	c.9G>A	c.(7-9)ggG>ggA	p.G3G	CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Silent_p.G3G|CLCN6_ENST00000376497.3_Silent_p.G3G|CLCN6_ENST00000312413.6_Silent_p.G3G|CLCN6_ENST00000376487.3_Silent_p.G3G	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	3					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGGCGGGGTGCAGGGGGT	0.677000													3	19					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468379	10468379	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr8:10468379C>A	ENST00000382483.3	-	4	3452	c.3229G>T	c.(3229-3231)Ggc>Tgc	p.G1077C		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1077					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GACACCCGGCCAGGAAGTGCC	0.692000													12	26					6.40141e-05	7.21172e-05	1	1	0
C14orf37	145407	broad.mit.edu	37	14	58471883	58471883	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr14:58471883C>A	ENST00000267485.7	-	7	2333	c.2139G>T	c.(2137-2139)ggG>ggT	p.G713G		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	713						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GCACCAGCATCCCAGACATGT	0.517000													13	60					9.05144e-12	1.23618e-11	1	1	0
OR6K6	128371	broad.mit.edu	37	1	158724731	158724731	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:158724731C>G	ENST00000368144.2	+	1	222	c.126C>G	c.(124-126)ttC>ttG	p.F42L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					AGTTCCTCTTCTCTATGTTCC	0.428000													17	238					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158627350	158627350	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:158627350G>T	ENST00000368148.3	-	19	2902	c.2722C>A	c.(2722-2724)Ctg>Atg	p.L908M	SPTA1_ENST00000368147.3_Missense_Mutation_p.L908M	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	908					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.L908M(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTTCATGCAGGTCAGCCAGG	0.483000													25	246					1.55469e-16	2.35186e-16	1	1	0
ITGB6	3694	broad.mit.edu	37	2	160964353	160964353	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:160964353C>A	ENST00000283249.2	-	14	2342	c.2105G>T	c.(2104-2106)tGt>tTt	p.C702F	ITGB6_ENST00000409967.2_Missense_Mutation_p.C595F|ITGB6_ENST00000428609.2_Missense_Mutation_p.C660F|ITGB6_ENST00000409872.1_Missense_Mutation_p.C702F			P18564	ITB6_HUMAN	integrin, beta 6	702					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AGGCTTCGGACAATCTGCAGA	0.413000													10	55					2.74318e-10	3.68982e-10	1	1	0
NLGN4X	57502	broad.mit.edu	37	X	5821840	5821840	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chrX:5821840C>A	ENST00000381095.3	-	5	1506	c.879G>T	c.(877-879)ccG>ccT	p.P293P	NLGN4X_ENST00000381092.1_Silent_p.P293P|NLGN4X_ENST00000538097.1_Silent_p.P293P|NLGN4X_ENST00000381093.2_Silent_p.P313P|NLGN4X_ENST00000275857.6_Silent_p.P293P	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	293					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGTACTTGGCCGGCTGGTAGT	0.542000													12	29					1.08611e-07	1.32719e-07	1	1	0
KIAA2018	205717	broad.mit.edu	37	3	113374705	113374705	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr3:113374705T>A	ENST00000316407.4	-	7	6234	c.5824A>T	c.(5824-5826)Aac>Tac	p.N1942Y	KIAA2018_ENST00000478658.1_Missense_Mutation_p.N1942Y|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1942					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CCATGCATGTTGGTTGTGACT	0.502000													5	57					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31534710	31534710	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr22:31534710T>A	ENST00000215885.3	-	2	842	c.590A>T	c.(589-591)aAc>aTc	p.N197I		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	197	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GATGCCATAGTTGTACTGCAA	0.607000													60	52					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100523444	100523444	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr8:100523444G>C	ENST00000358544.2	+	29	4523	c.4412G>C	c.(4411-4413)cGa>cCa	p.R1471P	VPS13B_ENST00000357162.2_Missense_Mutation_p.R1446P|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1471					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGAAATGAGCGAAGAAGTTTT	0.373000													33	117					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974768	20974768	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr16:20974768G>A	ENST00000261383.3	-	53	10437	c.10438C>T	c.(10438-10440)Cgg>Tgg	p.R3480W	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3480					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGTCAGGCCGCAAACATCGA	0.522000													4	34					0	0	1	0	0
NAT1	9	broad.mit.edu	37	8	18080399	18080399	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr8:18080399C>A	ENST00000539092.1	+	5	1534	c.843C>A	c.(841-843)ccC>ccA	p.P281P	NAT1_ENST00000541942.1_Silent_p.P281P|NAT1_ENST00000545197.1_Silent_p.P343P|NAT1_ENST00000518029.1_Silent_p.P281P|NAT1_ENST00000520546.1_Silent_p.P281P|NAT1_ENST00000517492.1_Silent_p.P281P|NAT1_ENST00000535084.1_Silent_p.P281P|NAT1_ENST00000307719.4_Silent_p.P281P	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	281					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		AGCTTGTGCCCAAACATGGTG	0.333000													8	24					1.12685e-05	1.29685e-05	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70504893	70504893	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:70504893C>G	ENST00000310961.5	+	22	3705	c.3287C>G	c.(3286-3288)cCa>cGa	p.P1096R	LRRC7_ENST00000415775.2_Missense_Mutation_p.P375R|LRRC7_ENST00000035383.5_Missense_Mutation_p.P1091R			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1091						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTTTCTCAGCCATCTGTGAAT	0.532000													42	72					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	T	rs121913530		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:25398285C>T	ENST00000311936.3	-	2	225	c.34G>A	c.(34-36)Ggt>Agt	p.G12S	KRAS_ENST00000256078.4_Missense_Mutation_p.G12S|KRAS_ENST00000557334.1_Missense_Mutation_p.G12S|KRAS_ENST00000556131.1_Missense_Mutation_p.G12S	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			19	11					0	0	1	0	0
WWOX	51741	broad.mit.edu	37	16	78198109	78198109	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr16:78198109C>T	ENST00000566780.1	+	5	805	c.439C>T	c.(439-441)Cat>Tat	p.H147Y	WWOX_ENST00000406884.2_Missense_Mutation_p.H147Y|WWOX_ENST00000408984.3_Missense_Mutation_p.H147Y|WWOX_ENST00000565791.1_3'UTR|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000355860.3_Missense_Mutation_p.H147Y|WWOX_ENST00000539474.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	147	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTTTGCCCTCCATGGTGCACA	0.443000													11	15					0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36430711	36430711	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:36430711C>T	ENST00000588831.1	+	3	1438	c.384C>T	c.(382-384)cgC>cgT	p.R128R	LRFN3_ENST00000246529.3_Silent_p.R128R			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	128					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCAGCTGCGCGGCCTGGTCA	0.706000													5	38					0	0	1	0	0
MOK	5891	broad.mit.edu	37	14	102717268	102717268	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr14:102717268C>A	ENST00000361847.2	-	7	702	c.471G>T	c.(469-471)ccG>ccT	p.P157P	MOK_ENST00000524214.1_Silent_p.P127P|MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Silent_p.P156P	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	157	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding										ATTCCGTGTACGGCTGCTTGG	0.552000													9	124					6.40141e-05	7.21172e-05	1	1	0
EEF1A2	1917	broad.mit.edu	37	20	62126415	62126415	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr20:62126415C>A	ENST00000217182.3	-	4	529	c.364G>T	c.(364-366)Gag>Tag	p.E122*	EEF1A2_ENST00000298049.7_Nonsense_Mutation_p.E122*	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	122						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GCCTCGAACTCGCCCACGCCC	0.682000													12	79					6.53275e-17	9.91048e-17	1	1	0
MAP4	4134	broad.mit.edu	37	3	47957762	47957762	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr3:47957762C>A	ENST00000426837.2	-	8	1693	c.1606G>T	c.(1606-1608)Gat>Tat	p.D536Y	MAP4_ENST00000395734.3_Missense_Mutation_p.D519Y|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Missense_Mutation_p.D519Y			P27816	MAP4_HUMAN	microtubule-associated protein 4	519	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GGAGTCACATCCTTGCCCAGA	0.517000													15	89					1.05317e-09	1.40951e-09	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134072556	134072556	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr4:134072556C>A	ENST00000264360.4	+	1	2087	c.1261C>A	c.(1261-1263)Ctg>Atg	p.L421M		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	421	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGAAGCCCCCCTGGACCGAGA	0.592000													41	183					2.64894e-19	4.17267e-19	1	1	0
OR4C15	81309	broad.mit.edu	37	11	55322292	55322292	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:55322292C>T	ENST00000314644.2	+	1	510	c.510C>T	c.(508-510)gcC>gcT	p.A170A		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCCTCACAGCCATGGCCTATG	0.493000										HNSCC(20;0.049)			8	131					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585212	82585212	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:82585212T>C	ENST00000423517.2	-	5	5394	c.5057A>G	c.(5056-5058)cAg>cGg	p.Q1686R	PCLO_ENST00000333891.8_Missense_Mutation_p.Q1686R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1617					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						TGTTTTTTTCTGTGATGACTC	0.418000													19	53					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43373130	43373130	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:43373130C>T	ENST00000244296.2	-	4	903	c.766G>A	c.(766-768)Gat>Aat	p.D256N	PSG1_ENST00000436291.2_Missense_Mutation_p.D256N|PSG1_ENST00000403380.3_Missense_Mutation_p.D163N|PSG1_ENST00000595124.1_Missense_Mutation_p.D163N|PSG1_ENST00000595356.1_Missense_Mutation_p.D256N|PSG1_ENST00000312439.6_Missense_Mutation_p.D256N	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TTTAAGACATCCTTATTCTCC	0.493000													14	280					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771910	143771910	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:143771910G>T	ENST00000408898.2	+	1	636	c.598G>T	c.(598-600)Gca>Tca	p.A200S		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					AATGGTTTTGGCAGGGGCAGT	0.443000													26	165					1.64293e-13	2.32713e-13	1	1	0
NEK4	6787	broad.mit.edu	37	3	52800267	52800267	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr3:52800267A>G	ENST00000233027.5	-	3	687	c.485T>C	c.(484-486)aTg>aCg	p.M162T	NEK4_ENST00000535191.1_Missense_Mutation_p.M73T|NEK4_ENST00000383721.4_Missense_Mutation_p.M162T	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	162	Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		GGTGCTAGCCATGTCACAGTG	0.448000													24	32					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55922555	55922555	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr6:55922555C>A	ENST00000244728.5	-	30	3171	c.2774G>T	c.(2773-2775)gGa>gTa	p.G925V	COL21A1_ENST00000370808.2_Missense_Mutation_p.G291V|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Missense_Mutation_p.G922V|COL21A1_ENST00000535941.1_Missense_Mutation_p.G925V	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	925					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCCTTGGATTCCAGGTTTTCC	0.517000													7	10					0.00198382	0.00209359	1	1	0
SLC26A3	1811	broad.mit.edu	37	7	107431532	107431532	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:107431532C>A	ENST00000340010.5	-	5	715	c.531G>T	c.(529-531)gcG>gcT	p.A177A	SLC26A3_ENST00000422236.2_Silent_p.A142A	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	177					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATGCCGCCGCCGCCACCCTCA	0.483000													16	21					4.7546e-09	6.22294e-09	1	1	0
SPDL1	54908	broad.mit.edu	37	5	169015423	169015423	+	Translation_Start_Site	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:169015423G>T	ENST00000265295.4	+	2	282	c.3G>T	c.(1-3)atG>atT	p.M1I	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		AAAAGAACATGGAGGCAGATA	0.343000													8	34					0.00448238	0.00470254	1	1	0
KRTAP1-5	83895	broad.mit.edu	37	17	39182995	39182995	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:39182995C>A	ENST00000361883.5	-	1	459	c.413G>T	c.(412-414)tGc>tTc	p.C138F		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	138	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGGGGCGTGCAGCTCACCAC	0.667000													5	44					0.014758	0.0153322	1	1	0
PRIM2	5558	broad.mit.edu	37	6	57246828	57246828	+	Splice_Site	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr6:57246828G>T	ENST00000607273.1	+	7	642		c.e7-1		PRIM2_ENST00000389488.2_Splice_Site	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TCTTAATTCAGATCCCTTTTG	0.363000													5	43					3.59834e-05	4.08832e-05	1	1	0
ITGB2	3689	broad.mit.edu	37	21	46323351	46323351	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr21:46323351A>G	ENST00000397850.2	-	6	880	c.428T>C	c.(427-429)cTc>cCc	p.L143P	ITGB2_ENST00000355153.4_Missense_Mutation_p.L143P|ITGB2_ENST00000397852.1_Missense_Mutation_p.L143P|ITGB2_ENST00000302347.5_Missense_Mutation_p.L143P|ITGB2_ENST00000397857.1_Missense_Mutation_p.L143P|ITGB2_ENST00000397854.3_Intron			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	143	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GACATTCCTGAGGTCATCAAG	0.607000													6	81					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125547612	125547612	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:125547612C>G	ENST00000431078.1	+	18	3247	c.2883C>G	c.(2881-2883)agC>agG	p.S961R		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	961	EGF-like 2.			PGHCSS -> SIKKLK (in Ref. 4; BAB71205).	cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCCACTGCAGCAGCTACGGCA	0.547000													17	30					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595447	55595447	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:55595447C>T	ENST00000378397.1	+	1	753	c.753C>T	c.(751-753)tcC>tcT	p.S251S		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCACTGTCTCCCATGGAACAA	0.498000										HNSCC(27;0.073)			18	78					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559961	140559961	+	Silent	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:140559961A>T	ENST00000239444.2	+	1	2591	c.2346A>T	c.(2344-2346)ccA>ccT	p.P782P		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		782					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTTGGGCCAGAAATGGAAC	0.378000													38	38					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133759423	133759423	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:133759423C>A	ENST00000318560.5	+	11	2127	c.1746C>A	c.(1744-1746)ggC>ggA	p.G582G		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	582					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CCCCGGAGGGCGGCCTGAATG	0.557000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								50	129					5.7616e-29	9.67514e-29	1	1	0
OR10G3	26533	broad.mit.edu	37	14	22037988	22037988	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr14:22037988C>T	ENST00000303532.1	-	1	887	c.888G>A	c.(886-888)gtG>gtA	p.V296V		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GGGCCAGCTTCACCTCTTGGT	0.522000													12	55					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187708	37187708	+	RNA	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:37187708G>T	ENST00000425901.2	+	0	1550					NR_033753.2																						CAGCGTTACAGCTCAACCTTT	0.498000													46	137					6.61955e-31	1.12217e-30	1	1	0
MYT1L	23040	broad.mit.edu	37	2	1890352	1890352	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:1890352T>G	ENST00000399161.2	-	18	3417	c.2670A>C	c.(2668-2670)aaA>aaC	p.K890N	MYT1L_ENST00000428368.2_Missense_Mutation_p.K888N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	890					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTCGAATGCTTTTGTCCGCCA	0.458000													6	39					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98015199	98015199	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:98015199C>A	ENST00000370192.3	-	12	1541	c.1441G>T	c.(1441-1443)Gat>Tat	p.D481Y		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	481					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CCAACGACATCACCACCTGCA	0.428000													23	78					1.10513e-12	1.54487e-12	1	1	0
COL21A1	81578	broad.mit.edu	37	6	55922556	55922556	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr6:55922556C>A	ENST00000244728.5	-	30	3170	c.2773G>T	c.(2773-2775)Gga>Tga	p.G925*	COL21A1_ENST00000370808.2_Nonsense_Mutation_p.G291*|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Nonsense_Mutation_p.G922*|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.G925*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	925					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCTTGGATTCCAGGTTTTCCA	0.512000													6	9					0.0215528	0.0221757	1	1	0
GLTSCR2	29997	broad.mit.edu	37	19	48254359	48254359	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:48254359C>G	ENST00000246802.5	+	4	631	c.593C>G	c.(592-594)tCa>tGa	p.S198*	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	198				SDNPLDRPLVGQDEFFLE -> LNNPDKPVVWPGCLFPG (in Ref. 3; AAG30413).		nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CTCTGGGCCTCAGACAGTGAG	0.612000													3	8					0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14625333	14625333	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chrX:14625333C>A	ENST00000218075.4	+	6	1188	c.658C>A	c.(658-660)Cag>Aag	p.Q220K	GLRA2_ENST00000355020.4_Missense_Mutation_p.Q220K|GLRA2_ENST00000443437.2_Missense_Mutation_p.Q131K	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	220					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	GACCCTGCCCCAGTTTATTTT	0.388000													44	41					2.26627e-22	3.6896e-22	1	1	0
OR6F1	343169	broad.mit.edu	37	1	247875588	247875588	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:247875588G>C	ENST00000302084.2	-	1	517	c.470C>G	c.(469-471)gCa>gGa	p.A157G	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGTGGGCACTGCAATGGCCAC	0.597000													29	83					0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180419848	180419848	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:180419848C>A	ENST00000342868.6	+	2	269	c.85C>A	c.(85-87)Cag>Aag	p.Q29K		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	29					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CAAGTTTGTCCAGGCCTTGGT	0.542000													36	57					6.97489e-18	1.06722e-17	1	1	0
RPL3L	6123	broad.mit.edu	37	16	1994846	1994846	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr16:1994846C>A	ENST00000268661.7	-	10	1310	c.1216G>T	c.(1216-1218)Gac>Tac	p.D406Y		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	406					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCTACAAGTCTCCCGAGGTC	0.592000													34	127					4.14481e-20	6.54831e-20	1	1	0
KCNT2	343450	broad.mit.edu	37	1	196438174	196438174	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:196438174G>T	ENST00000367433.5	-	6	510	c.409C>A	c.(409-411)Cga>Aga	p.R137R	KCNT2_ENST00000367431.4_Silent_p.R137R|KCNT2_ENST00000294725.8_Silent_p.R137R|KCNT2_ENST00000451324.2_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	137						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						AAGGGTATTCGTAAAATCTGT	0.333000													6	24					1.06961e-07	1.31304e-07	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185802849	185802849	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:185802849A>T	ENST00000302277.6	+	4	3320	c.2726A>T	c.(2725-2727)gAt>gTt	p.D909V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	909						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAATTGTCAGATGTTTCCAAT	0.413000													12	88					0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	138011928	138011928	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:138011928C>T	ENST00000252854.4	+	6	1495	c.1308C>T	c.(1306-1308)taC>taT	p.Y436Y	OLFM1_ENST00000371793.3_Silent_p.Y454Y|OLFM1_ENST00000371796.3_Silent_p.Y427Y	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	454	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TGCTGGACTACAACCCCAAGG	0.537000													17	90					0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47590270	47590270	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:47590270A>T	ENST00000172229.3	+	6	1308	c.1183A>T	c.(1183-1185)Agc>Tgc	p.S395C	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.S301C	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	395	Death.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CACCCAGGACAGCGCCACACT	0.687000													3	22					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100933199	100933199	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:100933199T>A	ENST00000325455.5	-	4	3644	c.2191A>T	c.(2191-2193)Aag>Tag	p.K731*	PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Nonsense_Mutation_p.K137*	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	731	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TTAGACCACTTGACTACTGAA	0.333000													60	144					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858403	9858403	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr16:9858403C>T	ENST00000396573.2	-	14	3307	c.2998G>A	c.(2998-3000)Gtg>Atg	p.V1000M	GRIN2A_ENST00000404927.2_Missense_Mutation_p.V1000M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V843M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V1000M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V1000M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V1000M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1000					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)	TCTGTGCTCACGGCCACCTCC	0.512000													13	82					0	0	1	0	0
CACTIN	58509	broad.mit.edu	37	19	3623819	3623819	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:3623819C>A	ENST00000429344.2	-	2	561	c.509G>T	c.(508-510)cGg>cTg	p.R170L	CACTIN_ENST00000248420.5_Missense_Mutation_p.R170L|CACTIN_ENST00000221899.3_Missense_Mutation_p.R102L	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		CTTGGCCAGCCGCCGTGCGCG	0.657000													6	14					0.217242	0.217242	1	1	0
RAB3GAP1	22930	broad.mit.edu	37	2	135893295	135893295	+	Silent	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:135893295A>T	ENST00000264158.8	+	17	1759	c.1716A>T	c.(1714-1716)ggA>ggT	p.G572G	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Silent_p.G528G|RAB3GAP1_ENST00000442034.1_Silent_p.G572G	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	572						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GAGAGGTAGGAAAATCTTGGG	0.408000													17	31					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74274191	74274191	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:74274191C>G	ENST00000409262.3	+	1	742	c.742C>G	c.(742-744)Ccc>Gcc	p.P248A		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	248							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						GGCTTCTTGCCCCCTTCCTGA	0.592000													33	56					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222838929	222838929	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:222838929G>C	ENST00000344922.5	+	28	5717	c.5692G>C	c.(5692-5694)Gac>Cac	p.D1898H	MIA3_ENST00000340535.7_Missense_Mutation_p.D776H|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.D1898H	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1898					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CACTAGCCAGGACTGTTCACA	0.478000													9	170					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197070480	197070480	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:197070480T>C	ENST00000367409.4	-	18	8157	c.7901A>G	c.(7900-7902)cAt>cGt	p.H2634R	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2634	IQ 28.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GGCTTTACAATGCTTCTGAAT	0.378000													20	36					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718589	103718589	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr13:103718589G>T	ENST00000245312.3	-	1	607	c.11C>A	c.(10-12)cCg>cAg	p.P4Q		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	4					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.P4Q(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACAGCTGTTCGGATCATTCAT	0.517000													7	40					0.000157383	0.000174725	1	1	0
RASSF9	9182	broad.mit.edu	37	12	86199740	86199740	+	Splice_Site	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:86199740T>C	ENST00000361228.3	-	2	416	c.47_splice	c.e2-1	p.R16_splice		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	16					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TAGTTGGAGATCTGAAAGAAA	0.378000													8	50					0	0	1	0	0
DDX55	57696	broad.mit.edu	37	12	124097728	124097728	+	Silent	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:124097728A>T	ENST00000238146.4	+	8	803	c.753A>T	c.(751-753)gcA>gcT	p.A251A	DDX55_ENST00000538744.1_Silent_p.A251A	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	251							ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TATGCAAGGCAGATGAGAAAT	0.378000													13	69					0	0	1	0	0
MAP2K6	5608	broad.mit.edu	37	17	67532289	67532289	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:67532289C>A	ENST00000590474.1	+	11	1202	c.915C>A	c.(913-915)taC>taA	p.Y305*	MAP2K6_ENST00000589647.1_Nonsense_Mutation_p.Y249*	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	305	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|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|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					GGCCTACATACCCAGAGCTAA	0.318000													21	153					3.8784e-16	5.78511e-16	1	1	0
PKD1L1	168507	broad.mit.edu	37	7	47913531	47913531	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:47913531G>T	ENST00000289672.2	-	24	3912	c.3862C>A	c.(3862-3864)Cgc>Agc	p.R1288S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1288	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCATGGTAGCGGGGCAGCACA	0.512000													5	50					0.014758	0.0153322	1	1	0
SLC12A5	57468	broad.mit.edu	37	20	44673636	44673636	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr20:44673636G>T	ENST00000454036.1	+	12	1571	c.1495G>T	c.(1495-1497)Gtg>Ttg	p.V499L	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.V476L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	499					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAACCTCGTGGTGGGCACTCT	0.602000													36	138					3.76114e-14	5.42823e-14	1	1	0
OR10X1	128367	broad.mit.edu	37	1	158549373	158549373	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:158549373C>T	ENST00000368150.1	-	1	316	c.317G>A	c.(316-318)aGa>aAa	p.R106K		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TGAAATGCTTCTGTCCTTGGC	0.478000													8	112					0	0	1	0	0
MOAP1	64112	broad.mit.edu	37	14	93649946	93649946	+	Silent	SNP	T	T	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr14:93649946T>G	ENST00000556883.1	-	2	1126	c.642A>C	c.(640-642)gcA>gcC	p.A214A	MOAP1_ENST00000298894.4_Silent_p.A214A			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	214					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		taacatcaagtgctgggcctc	0.453000													11	147					0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39726903	39726903	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr20:39726903G>C	ENST00000361337.2	+	11	1151	c.901G>C	c.(901-903)Gat>Cat	p.D301H		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	301					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	AAGCAAATGTGATTTTACCCA	0.368000			T	NUP98	AML*								24	57					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41599626	41599626	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:41599626C>A	ENST00000330436.3	+	6	923	c.923C>A	c.(922-924)aCc>aAc	p.T308N		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	308					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	ACCGTGAGCACCACCCTGCGC	0.562000													9	65					0.000274275	0.000298904	1	1	0
TOR1B	27348	broad.mit.edu	37	9	132571214	132571214	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:132571214G>T	ENST00000259339.2	+	4	732	c.672G>T	c.(670-672)acG>acT	p.T224T		NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	224					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				TAACTAAGACGGCTCTTGACT	0.463000													38	71					1.60099e-16	2.41505e-16	1	1	0
KCNS3	3790	broad.mit.edu	37	2	18112790	18112790	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:18112790G>T	ENST00000403915.1	+	3	966	c.515G>T	c.(514-516)tGg>tTg	p.W172L	KCNS3_ENST00000304101.4_Missense_Mutation_p.W172L|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	172					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAGAAAATCTGGATTAGAATG	0.512000													5	55					0.0293803	0.0300558	1	1	0
RIMBP2	23504	broad.mit.edu	37	12	130912804	130912804	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:130912804C>T	ENST00000261655.4	-	12	2444	c.2281G>A	c.(2281-2283)Gag>Aag	p.E761K		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	761						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGCTCCTCCTCGTCCTCCTCC	0.617000													8	67					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332456	22332456	+	RNA	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr15:22332456C>A	ENST00000558896.1	+	0	263																											TTCTTCTGGGCCTATCATCTT	0.368000													27	128					5.61819e-17	8.54733e-17	1	1	0
PLS1	5357	broad.mit.edu	37	3	142430746	142430746	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr3:142430746C>G	ENST00000337777.3	+	16	2000	c.1787C>G	c.(1786-1788)gCc>gGc	p.A596G	PLS1_ENST00000497002.1_Missense_Mutation_p.A596G|PLS1_ENST00000457734.2_Missense_Mutation_p.A596G	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	596	Actin-binding 2.|CH 4.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AAGATCGGTGCCCGGATATAT	0.378000													47	99					0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310129	124310129	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:124310129G>T	ENST00000328064.2	-	1	925	c.853C>A	c.(853-855)Ctc>Atc	p.L285I		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AATGGGTTGAGCATGGGCACC	0.423000													31	62					1.13719e-10	1.53737e-10	1	1	0
CD163	9332	broad.mit.edu	37	12	7639341	7639341	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:7639341C>T	ENST00000359156.4	-	10	2414	c.2212G>A	c.(2212-2214)Ggc>Agc	p.G738S	CD163_ENST00000396620.3_Missense_Mutation_p.G771S|CD163_ENST00000541972.1_Missense_Mutation_p.G726S|CD163_ENST00000432237.2_Missense_Mutation_p.G738S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	738	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCCCAGGAGCCCTCATGATAG	0.517000													41	107					0	0	1	0	0
RAB28	9364	broad.mit.edu	37	4	13378210	13378210	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr4:13378210G>A	ENST00000288723.4	-	6	746	c.532C>T	c.(532-534)Ctt>Ttt	p.L178F	RAB28_ENST00000338176.4_Missense_Mutation_p.L178F|RAB28_ENST00000330852.5_Missense_Mutation_p.L178F	NM_004249.3	NP_004240.2	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	178					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TTGATCCCAAGGATTTCAGCA	0.299000													14	54					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70171605	70171605	+	Splice_Site	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:70171605G>T	ENST00000253925.7	+	5	746		c.e5-1		AP000487.6_ENST00000528607.1_RNA|CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_Splice_Site	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1						cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTTATTTTCAGGTGAGAGAGC	0.328000													48	72					6.23363e-37	1.07379e-36	1	1	0
NTRK3	4916	broad.mit.edu	37	15	88669511	88669511	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr15:88669511C>A	ENST00000394480.1	-	13	1708	c.1387G>T	c.(1387-1389)Gga>Tga	p.G463*	NTRK3_ENST00000355254.2_Nonsense_Mutation_p.G463*|NTRK3_ENST00000360948.2_Nonsense_Mutation_p.G463*|NTRK3_ENST00000317501.3_Nonsense_Mutation_p.G463*|NTRK3_ENST00000557856.1_Nonsense_Mutation_p.G455*|NTRK3_ENST00000558676.1_Nonsense_Mutation_p.G455*|NTRK3_ENST00000357724.2_Nonsense_Mutation_p.G455*|NTRK3_ENST00000540489.2_Nonsense_Mutation_p.G463*|NTRK3_ENST00000542733.2_Nonsense_Mutation_p.G365*|NTRK3_ENST00000558306.1_Intron	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	463					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCCTTCATTCCAAATTTGGAC	0.443000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			7	24					0.00307968	0.0032373	1	1	0
CDHR1	92211	broad.mit.edu	37	10	85968063	85968063	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr10:85968063C>A	ENST00000372117.3	+	11	1200	c.1097C>A	c.(1096-1098)tCc>tAc	p.S366Y	CDHR1_ENST00000332904.3_Missense_Mutation_p.S366Y|CDHR1_ENST00000440770.2_Missense_Mutation_p.S125Y	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	366	Cadherin 4.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TTTGAGCTGTCCATGAATGAG	0.597000													5	52					0.000602214	0.000648352	1	1	0
NEUROD6	63974	broad.mit.edu	37	7	31378046	31378046	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:31378046C>T	ENST00000297142.3	-	2	1159	c.837G>A	c.(835-837)ttG>ttA	p.L279L		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	279					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TACCATAGTCCAAGGTTTCTT	0.507000													5	57					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55033135	55033135	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:55033135C>A	ENST00000417545.2	+	3	605	c.519C>A	c.(517-519)aaC>aaA	p.N173K		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	157						intracellular	zinc ion binding	p.N173K(1)|p.N157K(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ATCAGAGAAACCTGAATGTGG	0.408000													6	29					0.000157383	0.000174725	1	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107459800	107459800	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:107459800C>T	ENST00000409382.3	-	2	1244	c.634G>A	c.(634-636)Gtc>Atc	p.V212I	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.V212I|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.V212I	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	212					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTGGAAGAGACGTTCCCCTTC	0.637000													14	41					0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80717571	80717571	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr6:80717571C>T	ENST00000509894.1	+	3	1014	c.185C>T	c.(184-186)cCa>cTa	p.P62L	TTK_ENST00000369798.2_Missense_Mutation_p.P62L|TTK_ENST00000230510.3_Missense_Mutation_p.P62L			P33981	TTK_HUMAN	TTK protein kinase	62					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GCAAACAACCCAGAGGACTGG	0.348000													11	36					0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12186294	12186294	+	Splice_Site	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:12186294G>A	ENST00000263932.2	+	12	1531		c.e12+1		TNFRSF8_ENST00000479933.2_Splice_Site|TNFRSF8_ENST00000417814.2_Splice_Site|TNFRSF8_ENST00000413146.2_Splice_Site	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8						cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTTGTGGGTGAGTGTCCA	0.657000													8	69					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82786069	82786069	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:82786069G>A	ENST00000265077.3	+	3	788	c.223G>A	c.(223-225)Gga>Aga	p.G75R	VCAN_ENST00000502527.2_Missense_Mutation_p.G75R|VCAN_ENST00000513984.1_Missense_Mutation_p.G75R|VCAN_ENST00000342785.4_Missense_Mutation_p.G75R|VCAN_ENST00000343200.5_Missense_Mutation_p.G75R|VCAN_ENST00000512590.2_Missense_Mutation_p.G27R	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	75	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGACAAAAATGGAAAAGATTT	0.433000													7	105					0	0	1	0	0
HERC2P4	100289574	broad.mit.edu	37	16	32163507	32163507	+	RNA	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr16:32163507C>A	ENST00000564145.1	-	0	65																											TTTTGCCCTTCGGGGTGATGC	0.542000													7	79					1.06961e-07	1.31304e-07	1	1	0
POTED	317754	broad.mit.edu	37	21	14982875	14982875	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr21:14982875G>A	ENST00000299443.5	+	1	378	c.326G>A	c.(325-327)tGc>tAc	p.C109Y		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	109						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						TTCCCCTGCTGCAGGGGGAGC	0.582000													6	18					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3779703	3779703	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:3779703C>A	ENST00000310132.6	-	9	1233	c.835G>T	c.(835-837)Gtc>Ttc	p.V279F	MATK_ENST00000585778.1_Missense_Mutation_p.V279F|MATK_ENST00000395040.2_Missense_Mutation_p.V238F|MATK_ENST00000395045.2_Missense_Mutation_p.V280F	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	279	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGTCATGACGGCCGTCTCG	0.667000													8	26					0.000157383	0.000174725	1	1	0
ACOT8	10005	broad.mit.edu	37	20	44470570	44470570	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr20:44470570C>T	ENST00000217455.4	-	6	957	c.867G>A	c.(865-867)ggG>ggA	p.G289G	SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Intron	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	289					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				GCCACAGCCGCCCATGGACCA	0.567000													4	16					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168281113	168281113	+	Silent	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr6:168281113A>T	ENST00000366806.2	+	6	955	c.813A>T	c.(811-813)acA>acT	p.T271T	MLLT4_ENST00000400822.3_Silent_p.T270T|MLLT4_ENST00000392112.1_Silent_p.T270T|MLLT4_ENST00000392108.3_Silent_p.T271T|MLLT4_ENST00000447894.2_Silent_p.T271T|MLLT4_ENST00000351017.4_Silent_p.T271T|MLLT4_ENST00000344191.4_Silent_p.T271T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	271	Ras-associating 2.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TGTCTACTACAGATCCTGCAG	0.393000			T	MLL	AL								36	128					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111594504	111594504	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:111594504C>T	ENST00000304987.3	+	15	2605	c.2432C>T	c.(2431-2433)gCt>gTt	p.A811V		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	811					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CCCCGGGCTGCTCCTCCTCTG	0.657000													12	142					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5054741	5054741	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:5054741T>G	ENST00000381652.3	+	7	1287	c.793T>G	c.(793-795)Ttc>Gtc	p.F265V	JAK2_ENST00000544510.1_Missense_Mutation_p.F116V|JAK2_ENST00000539801.1_Missense_Mutation_p.F265V	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	265	FERM.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GCAGTCTGCCTTCTACACAGA	0.393000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				14	50					0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153789304	153789304	+	Silent	SNP	G	G	T	rs139278178		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:153789304G>T	ENST00000297107.6	+	9	1505	c.1368G>T	c.(1366-1368)ccG>ccT	p.P456P	GALNT10_ENST00000377661.2_Silent_p.P394P|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Silent_p.P129P|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	456						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGGAGCCCCCGGCTGCAGCTT	0.522000													38	55					1.04594e-18	1.63792e-18	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2830736	2830736	+	Silent	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr8:2830736G>C	ENST00000520002.1	-	58	9384	c.8829C>G	c.(8827-8829)ctC>ctG	p.L2943L	CSMD1_ENST00000400186.3_Silent_p.L2885L|CSMD1_ENST00000602557.1_Silent_p.L2943L|CSMD1_ENST00000602723.1_Silent_p.L2885L|CSMD1_ENST00000537824.1_Silent_p.L2942L|CSMD1_ENST00000542608.1_Silent_p.L2884L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2943	Sushi 22.					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)		AGGAGAAGCGGAGAAGACTCT	0.537000													28	79					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5054743	5054743	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:5054743C>G	ENST00000381652.3	+	7	1289	c.795C>G	c.(793-795)ttC>ttG	p.F265L	JAK2_ENST00000544510.1_Missense_Mutation_p.F116L|JAK2_ENST00000539801.1_Missense_Mutation_p.F265L	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	265	FERM.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		AGTCTGCCTTCTACACAGAGA	0.393000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				15	50					0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322778	5322778	+	Silent	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:5322778A>T	ENST00000380224.1	-	1	448	c.399T>A	c.(397-399)ctT>ctA	p.L133L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGAATTGGTAAGAATGCAGT	0.433000													9	115					0	0	1	0	0
SLC35A2	7355	broad.mit.edu	37	X	48762204	48762204	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chrX:48762204C>A	ENST00000376521.1	-	4	1303	c.982G>T	c.(982-984)Gct>Tct	p.A328S	SLC35A2_ENST00000452555.2_Missense_Mutation_p.A356S|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000413561.2_Missense_Mutation_p.A267S|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000247138.5_Missense_Mutation_p.A328S|SLC35A2_ENST00000445167.2_Intron	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	328					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity	p.A328T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						ACGAGTCCAGCGCCAAGGGCA	0.592000													3	16					0.115264	0.117017	1	1	0
ADORA3	140	broad.mit.edu	37	1	112045664	112045664	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:112045664C>T	ENST00000241356.4	-	1	718	c.313G>A	c.(313-315)Gct>Act	p.A105T	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000486342.1_5'UTR|ADORA3_ENST00000369716.4_Missense_Mutation_p.A105T	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	105			A -> T (in a colorectal cancer sample; somatic mutation).		activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.A105T(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	CGGTCCACAGCGATGGCCAGC	0.552000													7	36					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55419211	55419211	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:55419211C>A	ENST00000312422.2	+	1	832	c.832C>A	c.(832-834)Ccc>Acc	p.P278T		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CATTATCACTCCCATGTTAAA	0.408000													41	154					2.66277e-13	3.75176e-13	1	1	0
ARHGEF15	22899	broad.mit.edu	37	17	8219340	8219340	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:8219340C>T	ENST00000361926.3	+	9	1688	c.1578C>T	c.(1576-1578)gaC>gaT	p.D526D	ARHGEF15_ENST00000421050.1_Silent_p.D526D	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	526	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TCTGCAGGGACACCAACGTGC	0.687000													6	21					0	0	1	0	0
CCR10	2826	broad.mit.edu	37	17	40832577	40832577	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:40832577G>A	ENST00000332438.4	-	2	102	c.83C>T	c.(82-84)cCg>cTg	p.P28L	CTD-3193K9.4_ENST00000593139.1_RNA|CCR10_ENST00000591765.1_5'UTR	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	28						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCAAAGCTCCGGCAGTGGCTC	0.612000													6	50					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21970206	21970206	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:21970206C>A	ENST00000261200.4	-	31	3806	c.3807G>T	c.(3805-3807)ttG>ttT	p.L1269F	ABCC9_ENST00000345162.2_Missense_Mutation_p.L1233F|ABCC9_ENST00000261201.4_Missense_Mutation_p.L1269F	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1269	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCAGGTCAGCCAAGTTCCTCA	0.383000													15	196					0.000422831	0.000458927	1	1	0
F13B	2165	broad.mit.edu	37	1	197026189	197026189	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:197026189C>T	ENST00000367412.1	-	7	1168	c.1125G>A	c.(1123-1125)gaG>gaA	p.E375E		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	375	Sushi 6.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TACAAGTTATCTCATTCGATC	0.368000													22	67					0	0	1	0	0
NKD2	85409	broad.mit.edu	37	5	1037950	1037950	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:1037950C>T	ENST00000296849.5	+	10	1047	c.818C>T	c.(817-819)cCc>cTc	p.P273L	NKD2_ENST00000382730.2_Intron|NKD2_ENST00000274150.4_3'UTR	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	273					exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			AAGCAGGAGCCCCAGGGCAGG	0.657000													4	27					0	0	1	0	0
GPBAR1	151306	broad.mit.edu	37	2	219128429	219128429	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:219128429G>A	ENST00000522678.1	+	2	1850	c.982G>A	c.(982-984)Gac>Aac	p.D328N	GPBAR1_ENST00000479077.1_Missense_Mutation_p.D328N|GPBAR1_ENST00000521462.1_Missense_Mutation_p.D328N|GPBAR1_ENST00000519574.1_Missense_Mutation_p.D328N	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	328						integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCGACCTGGACTTGAACTA	0.622000													6	70					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153225260	153225260	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chrX:153225260C>G	ENST00000310441.7	-	8	2403	c.1437G>C	c.(1435-1437)agG>agC	p.R479S	HCFC1_ENST00000354233.3_Missense_Mutation_p.R410S|HCFC1_ENST00000369984.4_Missense_Mutation_p.R479S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	479					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCTTGAGTCCTGGCTGCGG	0.677000													13	9					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204924038	204924038	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:204924038C>A	ENST00000367172.4	+	7	822	c.494C>A	c.(493-495)cCg>cAg	p.P165Q	NFASC_ENST00000539706.1_Missense_Mutation_p.P159Q|NFASC_ENST00000513543.1_Missense_Mutation_p.P159Q|NFASC_ENST00000403080.1_Missense_Mutation_p.P165Q|NFASC_ENST00000404076.1_Missense_Mutation_p.P159Q|NFASC_ENST00000401399.1_Missense_Mutation_p.P165Q|NFASC_ENST00000338515.6_Missense_Mutation_p.P165Q|NFASC_ENST00000338586.6_Missense_Mutation_p.P165Q|NFASC_ENST00000367171.4_Missense_Mutation_p.P165Q|NFASC_ENST00000339876.6_Missense_Mutation_p.P165Q|NFASC_ENST00000367170.4_Missense_Mutation_p.P165Q|NFASC_ENST00000360049.4_Missense_Mutation_p.P159Q|NFASC_ENST00000367169.4_Missense_Mutation_p.P165Q|NFASC_ENST00000404907.1_Missense_Mutation_p.P159Q			O94856	NFASC_HUMAN	neurofascin	165	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGCAACCCCCCGCCTGGACTT	0.567000													49	149					2.29192e-23	3.75424e-23	1	1	0
CD1A	909	broad.mit.edu	37	1	158225078	158225078	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:158225078G>A	ENST00000289429.5	+	2	796	c.263G>A	c.(262-264)cGt>cAt	p.R88H		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	88					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACATTATTCCGTATACGCACC	0.488000													24	102					0	0	1	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14950843	14950843	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr10:14950843C>T	ENST00000453695.2	-	14	1727	c.1283G>A	c.(1282-1284)aGt>aAt	p.S428N	DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.S428N|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.S428N|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.S433N|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.S428N|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.S201N|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.S428N|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.S433N|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.S548N|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.S433N	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	548					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CCAGCCTTGACTTCCTTGTTC	0.443000								Non-homologous end-joining					15	83					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738905	176738905	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:176738905C>T	ENST00000367662.3	+	16	5650	c.4486C>T	c.(4486-4488)Cca>Tca	p.P1496S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1496	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTCCCACCAGCCAAGCT	0.512000													42	154					0	0	1	0	0
FYTTD1	84248	broad.mit.edu	37	3	197505313	197505313	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr3:197505313A>C	ENST00000428395.2	+	9	996	c.563A>C	c.(562-564)gAc>gCc	p.D188A	FYTTD1_ENST00000492360.1_3'UTR|FYTTD1_ENST00000415708.2_Missense_Mutation_p.D253A|FYTTD1_ENST00000241502.3_Missense_Mutation_p.D279A|FYTTD1_ENST00000424384.2_Missense_Mutation_p.D212A	NM_001011537.2	NP_001011537.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	279					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		CTGCAGTTTGACATAAACAGT	0.353000													6	47					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78225320	78225320	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:78225320C>A	ENST00000397909.2	+	1	252	c.79C>A	c.(79-81)Cca>Aca	p.P27T	NAV3_ENST00000266692.7_Missense_Mutation_p.P27T|NAV3_ENST00000536525.2_Missense_Mutation_p.P27T|NAV3_ENST00000228327.6_Missense_Mutation_p.P27T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	27						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCTTCCGATACCAAATCTTGG	0.458000										HNSCC(70;0.22)			75	142					1.68946e-44	2.92913e-44	1	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14851707	14851707	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr18:14851707C>T	ENST00000358984.4	+	36	3587	c.3407C>T	c.(3406-3408)aCa>aTa	p.T1136I		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1221										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAACAGAAAACAGTAACAAAA	0.358000													13	45					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040515	107040515	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:107040515G>C	ENST00000409886.3	-	20	3995	c.3908C>G	c.(3907-3909)tCt>tGt	p.S1303C	RGPD3_ENST00000304514.7_Missense_Mutation_p.S1303C	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1303					intracellular transport		binding	p.K1304fs*5(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AGGAGACTTAGATAGACTCAA	0.403000													83	141					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573763	140573763	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:140573763G>T	ENST00000239446.4	+	1	1822	c.1638G>T	c.(1636-1638)ctG>ctT	p.L546L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		546	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAGGCGCTGGTGCGCGTGC	0.711000													20	30					9.04412e-07	1.08774e-06	1	1	0
FCRLA	84824	broad.mit.edu	37	1	161681009	161681009	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:161681009C>T	ENST00000367959.2	+	4	555	c.313C>T	c.(313-315)Ctc>Ttc	p.L105F	FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000236938.6_Missense_Mutation_p.L99F|FCRLA_ENST00000367953.3_Missense_Mutation_p.L88F|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000349527.4_Missense_Mutation_p.L82F|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000540926.1_Missense_Mutation_p.L88F	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	82	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGGCTGATCCTCCAAGGTCC	0.587000													30	31					0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68404942	68404942	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr16:68404942G>C	ENST00000219334.5	-	3	1746	c.1143C>G	c.(1141-1143)taC>taG	p.Y381*	SMPD3_ENST00000563226.1_Nonsense_Mutation_p.Y381*|SMPD3_ENST00000568373.1_Nonsense_Mutation_p.Y381*	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	381					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TGTACTCGAAGTAGCCGTGCA	0.597000													8	37					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587721	247587721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:247587721G>T	ENST00000366497.2	+	4	1756	c.976G>T	c.(976-978)Gag>Tag	p.E326*	NLRP3_ENST00000336119.3_Nonsense_Mutation_p.E326*|NLRP3_ENST00000348069.2_Nonsense_Mutation_p.E326*|NLRP3_ENST00000391828.3_Nonsense_Mutation_p.E326*|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Nonsense_Mutation_p.E326*|NLRP3_ENST00000391827.2_Nonsense_Mutation_p.E326*	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	326	NACHT.				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)			GCAGAAGGCCGAGCGGGGAGA	0.572000													7	109					0.00198382	0.00209359	1	1	0
GOLGA2	2801	broad.mit.edu	37	9	131023512	131023512	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:131023512T>A	ENST00000421699.2	-	16	1290	c.1278A>T	c.(1276-1278)gaA>gaT	p.E426D		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	426						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCATGCTACATTCCTTCTCCT	0.597000													13	126					0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46976208	46976208	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:46976208C>A	ENST00000371956.4	+	2	245	c.230C>A	c.(229-231)gCg>gAg	p.A77E	DMBX1_ENST00000360032.3_Missense_Mutation_p.A72E	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	77	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGCCGCACAGCGTTCACGGCT	0.587000													11	27					3.07112e-06	3.61228e-06	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105412058	105412058	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr14:105412058G>C	ENST00000333244.5	-	7	9849	c.9730C>G	c.(9730-9732)Ccc>Gcc	p.P3244A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3244						nucleus		p.P3244T(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTATCTGGGGGCCCTTGCGA	0.612000													67	123					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53617317	53617317	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr13:53617317C>A	ENST00000219022.2	+	4	726	c.648C>A	c.(646-648)atC>atA	p.I216I		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	216					cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GCCGAGAAATCGTGGCTCTGA	0.443000													22	60					5.26018e-13	7.39193e-13	1	1	0
FRMD6	122786	broad.mit.edu	37	14	52186968	52186968	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr14:52186968G>T	ENST00000395718.2	+	11	1481	c.1196G>T	c.(1195-1197)gGg>gTg	p.G399V	FRMD6_ENST00000344768.5_Missense_Mutation_p.G407V|FRMD6_ENST00000554167.1_Missense_Mutation_p.G330V|FRMD6_ENST00000356218.4_Missense_Mutation_p.G399V|FRMD6_ENST00000553556.1_Missense_Mutation_p.G49V	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	407						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CGGGACACGGGGCCAGAAGAC	0.612000													6	50					5.18039e-06	6.04002e-06	1	1	0
POPDC2	64091	broad.mit.edu	37	3	119373406	119373406	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr3:119373406G>T	ENST00000493094.1	-	2	1005	c.546C>A	c.(544-546)ttC>ttA	p.F182L	POPDC2_ENST00000264231.3_Missense_Mutation_p.F182L|POPDC2_ENST00000538678.1_Missense_Mutation_p.F182L|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000468801.1_Missense_Mutation_p.F182L			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	182						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		GAGAGTCCATGAACTGGTATG	0.547000													16	39					4.7546e-09	6.22294e-09	1	1	0
NAV1	89796	broad.mit.edu	37	1	201777944	201777944	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:201777944C>A	ENST00000367296.4	+	20	4572	c.4152C>A	c.(4150-4152)cgC>cgA	p.R1384R	NAV1_ENST00000367297.4_Silent_p.R1376R|NAV1_ENST00000295624.6_Silent_p.R1381R|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Silent_p.R1337R|NAV1_ENST00000367295.1_Silent_p.R990R|NAV1_ENST00000367300.3_Silent_p.R1324R	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1384					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CTTCCCCACGCCGCTCCCTAG	0.567000													14	121					9.05144e-12	1.23618e-11	1	1	0
TAS1R2	80834	broad.mit.edu	37	1	19166739	19166739	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:19166739G>A	ENST00000375371.3	-	6	1895	c.1874C>T	c.(1873-1875)cCc>cTc	p.P625L		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	625					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGAGACCTTGGGCGGCCCCAC	0.622000													15	82					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37210634	37210634	+	Silent	SNP	G	G	T	rs117657033	by1000genomes	TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:37210634G>T	ENST00000585696.1	+	3	2145	c.915G>T	c.(913-915)tcG>tcT	p.S305S	ZNF567_ENST00000588311.1_Silent_p.S305S|ZNF567_ENST00000536254.2_Silent_p.S336S|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Silent_p.S305S|ZNF567_ENST00000392163.2_Silent_p.S305S			Q8N184	ZN567_HUMAN	zinc finger protein 567	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGGAGAAATCGTATGAATGTC	0.453000													6	47					0.0215528	0.0221757	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141242913	141242913	+	Splice_Site	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:141242913C>A	ENST00000389484.3	-	59	10395	c.9425_splice	c.e59+1	p.G3142_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3142					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTACAAACCCAGCTTGAGGA	0.333000										TSP Lung(27;0.18)			14	42					3.27435e-08	4.10447e-08	1	1	0
PPM1E	22843	broad.mit.edu	37	17	57057803	57057803	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:57057803A>G	ENST00000308249.2	+	7	1808	c.1679A>G	c.(1678-1680)cAa>cGa	p.Q560R		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	569					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			CCAGGGTCCCAAATCAACGTG	0.527000													29	62					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038940	11038940	+	RNA	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr21:11038940G>T	ENST00000470054.1	-	0	1263									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCTTATGTCTGCTGATAATGA	0.423000													23	501					2.21704e-12	3.07506e-12	1	1	0
EPHB6	2051	broad.mit.edu	37	7	142562249	142562249	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:142562249A>T	ENST00000392957.2	+	7	1478	c.691A>T	c.(691-693)Acc>Tcc	p.T231S	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.T231S	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	231	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTTCTCCTACACCTGCCCTGC	0.672000													33	137					0	0	1	0	0
THEM4	117145	broad.mit.edu	37	1	151860831	151860831	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:151860831T>C	ENST00000368814.3	-	4	824	c.475A>G	c.(475-477)Atg>Gtg	p.M159V	THEM4_ENST00000477437.1_5'UTR	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	159					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane				endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCATCAATCATGGTTGCAATG	0.398000													56	45					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318981	79318981	+	Silent	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:79318981T>C	ENST00000428286.1	-	9	7671	c.6471A>G	c.(6469-6471)gaA>gaG	p.E2157E	PRUNE2_ENST00000376718.3_Silent_p.E2516E			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2516					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAATTGTTTTTTCTTCTTCCA	0.368000													49	103					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151366116	151366116	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chrX:151366116C>A	ENST00000370314.4	-	8	1158	c.920G>T	c.(919-921)cGt>cTt	p.R307L	GABRA3_ENST00000535043.1_Missense_Mutation_p.R307L|GABRA3_ENST00000370311.1_Missense_Mutation_p.R307L	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	307					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAAGACTGTACGGGCAGGAAC	0.463000													27	15					9.39395e-14	1.33414e-13	1	1	0
KCNQ2	3785	broad.mit.edu	37	20	62078122	62078122	+	Nonsense_Mutation	SNP	G	G	T	rs118192194		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr20:62078122G>T	ENST00000354587.3	-	2	541	c.365C>A	c.(364-366)tCg>tAg	p.S122*	KCNQ2_ENST00000359125.2_Nonsense_Mutation_p.S122*|KCNQ2_ENST00000370226.1_Nonsense_Mutation_p.S122*|KCNQ2_ENST00000344425.5_Nonsense_Mutation_p.S122*|KCNQ2_ENST00000357249.2_Nonsense_Mutation_p.S122*|KCNQ2_ENST00000370222.3_Nonsense_Mutation_p.S122*|KCNQ2_ENST00000360480.3_Nonsense_Mutation_p.S122*|KCNQ2_ENST00000359689.1_Nonsense_Mutation_p.S122*|KCNQ2_ENST00000430658.1_Nonsense_Mutation_p.S122*|KCNQ2_ENST00000370224.1_Nonsense_Mutation_p.S122*|KCNQ2_ENST00000370221.1_Nonsense_Mutation_p.S122*|KCNQ2_ENST00000344462.3_Nonsense_Mutation_p.S122*			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	122					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.S122L(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GGCCCCCTCCGAGCTCTTCTC	0.632000													25	83					2.79863e-10	3.75495e-10	1	1	0
SLC16A14	151473	broad.mit.edu	37	2	230911413	230911413	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:230911413C>A	ENST00000295190.4	-	4	887	c.429G>T	c.(427-429)ctG>ctT	p.L143L		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	143						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CCACCGCTGGCAGGTAGGCCA	0.602000													7	56					0.00198382	0.00209359	1	1	0
KCNK7	10089	broad.mit.edu	37	11	65360612	65360612	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:65360612C>T	ENST00000340313.4	-	3	1011	c.788G>A	c.(787-789)cGt>cAt	p.R263H	KCNK7_ENST00000342202.4_3'UTR|KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000394216.2_3'UTR	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	263						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						CCCCATGGCACGGACCTGCGG	0.617000													4	21					0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139303	142139303	+	RNA	SNP	T	T	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:142139303T>G	ENST00000390374.3	-	0	366																											CAGCGATACATGGCCGAGTCC	0.572000													8	76					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142562250	142562250	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:142562250C>A	ENST00000392957.2	+	7	1479	c.692C>A	c.(691-693)aCc>aAc	p.T231N	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.T231N	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	231	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TTCTCCTACACCTGCCCTGCC	0.672000													33	143					4.39465e-27	7.31072e-27	1	1	0
CCL18	6362	broad.mit.edu	37	17	34391718	34391718	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:34391718G>T	ENST00000004921.3	+	1	79	c.16G>T	c.(16-18)Gct>Tct	p.A6S		NM_002988.2	NP_002979.1	P55774	CCL18_HUMAN	chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)	6					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to biotic stimulus|signal transduction	extracellular space	chemokine activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGGCCTTGCAGCTGCCCTCCT	0.582000													25	109					5.45024e-15	8.01771e-15	1	1	0
WDR47	22911	broad.mit.edu	37	1	109524457	109524457	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:109524457C>T	ENST00000357672.3	-	12	2587	c.2212G>A	c.(2212-2214)Ggc>Agc	p.G738S	WDR47_ENST00000361054.3_Missense_Mutation_p.G738S|WDR47_ENST00000400794.3_Missense_Mutation_p.G774S|WDR47_ENST00000369962.3_Missense_Mutation_p.G766S|WDR47_ENST00000369965.4_Missense_Mutation_p.G767S			O94967	WDR47_HUMAN	WD repeat domain 47	766										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATCATCCAGCCACTCCAGGTA	0.383000													10	132					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73461370	73461370	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:73461370C>A	ENST00000377110.2	-	4	843	c.600G>T	c.(598-600)aaG>aaT	p.K200N	TRPM3_ENST00000396292.4_Missense_Mutation_p.K47N|TRPM3_ENST00000377097.3_Missense_Mutation_p.K47N|TRPM3_ENST00000357533.2_Missense_Mutation_p.K202N|TRPM3_ENST00000358082.3_Missense_Mutation_p.K47N|TRPM3_ENST00000377101.1_Missense_Mutation_p.K47N|TRPM3_ENST00000360823.2_Missense_Mutation_p.K47N|TRPM3_ENST00000396280.5_Missense_Mutation_p.K47N|TRPM3_ENST00000361823.5_Missense_Mutation_p.K47N|TRPM3_ENST00000377105.1_Missense_Mutation_p.K47N|TRPM3_ENST00000377106.1_Missense_Mutation_p.K47N|TRPM3_ENST00000408909.2_Missense_Mutation_p.K47N|TRPM3_ENST00000423814.3_Missense_Mutation_p.K202N|TRPM3_ENST00000377111.2_Missense_Mutation_p.K200N|TRPM3_ENST00000396283.1_Missense_Mutation_p.K47N|TRPM3_ENST00000396285.1_Missense_Mutation_p.K47N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	200						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CAAAGACTTGCTTGAGTTTTG	0.483000													48	149					4.18559e-23	6.83518e-23	1	1	0
ADCY2	108	broad.mit.edu	37	5	7820694	7820694	+	Silent	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:7820694T>A	ENST00000338316.4	+	24	3104	c.3015T>A	c.(3013-3015)ccT>ccA	p.P1005P	ADCY2_ENST00000537121.1_Silent_p.P825P	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1005					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACCATGGACCTGTGATAGCTG	0.428000													5	41					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171954	207171954	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:207171954A>C	ENST00000374423.3	+	5	3088	c.2702A>C	c.(2701-2703)cAg>cCg	p.Q901P		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	901							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAAGAAGAGCAGGTACACTTA	0.368000													8	52					0	0	1	0	0
PUS1	80324	broad.mit.edu	37	12	132416843	132416843	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:132416843G>T	ENST00000542167.2	+	2	1021	c.268G>T	c.(268-270)Gcc>Tcc	p.A90S	PUS1_ENST00000535067.1_Missense_Mutation_p.A115S|PUS1_ENST00000443358.2_Missense_Mutation_p.A115S|PUS1_ENST00000376649.3_Missense_Mutation_p.A143S|PUS1_ENST00000440818.2_Missense_Mutation_p.A115S			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	143						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CCAGCGCTGCGCCCGGACAGA	0.562000													8	27					0.00307968	0.0032373	1	1	0
FSCN3	29999	broad.mit.edu	37	7	127235724	127235724	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:127235724G>A	ENST00000265825.5	+	2	727	c.508G>A	c.(508-510)Gca>Aca	p.A170T	FSCN3_ENST00000420086.2_Missense_Mutation_p.A36T	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	170						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	p.A170T(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CTGGGTGGACGCAGCAGTTCC	0.607000													8	67					0	0	1	0	0
SLC22A23	63027	broad.mit.edu	37	6	3410527	3410527	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr6:3410527A>G	ENST00000436008.2	-	3	1270	c.808T>C	c.(808-810)Ttt>Ctt	p.F270L	SLC22A23_ENST00000380302.4_5'UTR|SLC22A23_ENST00000490273.1_5'UTR|SLC22A23_ENST00000406686.3_Missense_Mutation_p.F270L|SLC22A23_ENST00000380298.2_Missense_Mutation_p.F270L			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	270					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				GTCAGTCCAAAGATCAGAATG	0.463000													12	28					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21201777	21201777	+	Silent	SNP	C	C	G	rs145057136		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:21201777C>G	ENST00000342679.4	+	2	351	c.102C>G	c.(100-102)ccC>ccG	p.P34P	MAP2K3_ENST00000316920.6_Silent_p.P5P|MAP2K3_ENST00000361818.5_Silent_p.P5P	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	34					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCAAGCCACCCGCACCCAACC	0.562000													19	123					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87968813	87968813	+	Silent	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr6:87968813A>G	ENST00000369577.3	+	8	5509	c.5466A>G	c.(5464-5466)aaA>aaG	p.K1822K	ZNF292_ENST00000339907.4_Silent_p.K1817K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGCCAACAAAAAGTAACATTC	0.333000													20	13					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283771	159283771	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:159283771G>T	ENST00000332217.5	-	1	678	c.679C>A	c.(679-681)Ctt>Att	p.L227I		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GCAATCTTAAGAATGGTGGAG	0.488000													86	73					1.16018e-38	2.00498e-38	1	1	0
C2CD3	26005	broad.mit.edu	37	11	73820134	73820134	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:73820134C>A	ENST00000334126.7	-	12	2133	c.1907G>T	c.(1906-1908)tGg>tTg	p.W636L	C2CD3_ENST00000313663.7_Missense_Mutation_p.W636L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	636						centrosome		p.W636*(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGAATTCCACCAGTGCTCTAT	0.438000													32	42					3.80469e-20	6.0288e-20	1	1	0
DNM1	1759	broad.mit.edu	37	9	131008720	131008720	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:131008720G>T	ENST00000341179.7	+	16	1811	c.1719G>T	c.(1717-1719)cgG>cgT	p.R573R	DNM1_ENST00000372923.3_Silent_p.R573R|DNM1_ENST00000393594.3_Silent_p.R573R|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000486160.1_Silent_p.R573R|DNM1_ENST00000475805.1_Silent_p.R573R	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	573	PH.				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TCAAGCTGCGGGACGTGGAGA	0.562000													17	49					1.33834e-09	1.78222e-09	1	1	0
CCDC80	151887	broad.mit.edu	37	3	112357658	112357658	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr3:112357658C>T	ENST00000206423.3	-	2	2048	c.1095G>A	c.(1093-1095)acG>acA	p.T365T	CCDC80_ENST00000439685.2_Silent_p.T365T	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	365	Thr-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CCGCCCGGGACGTGGACCGAG	0.642000													8	44					0	0	1	0	0
TRAV30	28652	broad.mit.edu	37	14	22636775	22636775	+	RNA	SNP	G	G	T	rs111804729		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr14:22636775G>T	ENST00000557168.1	+	0	228																											GAGAACAGAAGGGTCATGAAA	0.458000													10	42					2.17888e-05	2.49148e-05	1	1	0
CLEC4C	170482	broad.mit.edu	37	12	7882323	7882323	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:7882323C>A	ENST00000542353.1	-	7	1001	c.511G>T	c.(511-513)Ggt>Tgt	p.G171C	CLEC4C_ENST00000360345.3_Missense_Mutation_p.G171C|CLEC4C_ENST00000354629.5_Missense_Mutation_p.G140C|CLEC4C_ENST00000540085.1_Missense_Mutation_p.G140C	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	171	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TTGGGTTCACCTGAGTGCCAG	0.448000													28	139					6.07407e-21	9.71124e-21	1	1	0
EHMT1	79813	broad.mit.edu	37	9	140729340	140729340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:140729340G>T	ENST00000460843.1	+	27	3859	c.3832G>T	c.(3832-3834)Gcc>Tcc	p.A1278S		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1278					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GGCCAGCGCGGCCCAGGAGGC	0.746000													8	13					0.000274275	0.000298904	1	1	0
C1orf63	57035	broad.mit.edu	37	1	25573269	25573269	+	Silent	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:25573269G>A	ENST00000243189.7	-	2	462	c.186C>T	c.(184-186)tcC>tcT	p.S62S	C1orf63_ENST00000417642.2_Silent_p.S55S|C1orf63_ENST00000431849.2_Silent_p.S62S	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	62	Arg-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AACGGGACCTGGACTTGCTCC	0.652000													19	75					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171505341	171505341	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:171505341G>T	ENST00000367742.3	+	14	2459	c.2217G>T	c.(2215-2217)tgG>tgT	p.W739C	PRRC2C_ENST00000426496.2_Missense_Mutation_p.W737C|PRRC2C_ENST00000338920.4_Missense_Mutation_p.W737C|PRRC2C_ENST00000392078.3_Missense_Mutation_p.W739C			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	737	Pro-rich.						protein C-terminus binding										ATCCAAGGTGGCTCATGATGC	0.473000													12	12					7.03913e-09	9.14573e-09	1	1	0
CRB2	286204	broad.mit.edu	37	9	126133381	126133381	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:126133381G>T	ENST00000373631.3	+	8	1961	c.1960G>T	c.(1960-1962)Gcc>Tcc	p.A654S	CRB2_ENST00000373629.2_Missense_Mutation_p.A322S|CRB2_ENST00000359999.3_Missense_Mutation_p.A654S	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	654	Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTTGGGAGGCGCCCCAAGCTC	0.617000													62	128					1.80625e-27	3.01419e-27	1	1	0
ANK2	287	broad.mit.edu	37	4	114279310	114279310	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr4:114279310C>T	ENST00000357077.4	+	38	9589	c.9536C>T	c.(9535-9537)gCa>gTa	p.A3179V	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.A3146V|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3146					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GATGATGAGGCAGACTTACTT	0.478000													9	63					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975261	20975261	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr16:20975261C>A	ENST00000261383.3	-	53	9944	c.9945G>T	c.(9943-9945)gaG>gaT	p.E3315D	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3315					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGTACATCGGCTCGATGTTGG	0.502000													13	104					9.31168e-06	1.07396e-05	1	1	0
SLCO1B3	28234	broad.mit.edu	37	12	21069086	21069086	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:21069086G>T	ENST00000381545.3	+	16	2233	c.2014G>T	c.(2014-2016)Gaa>Taa	p.E672*	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000261196.2_Nonsense_Mutation_p.E672*|SLCO1B3_ENST00000553473.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	672					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AGCAAACTTAGAATTCTTAAA	0.318000													41	40					3.61848e-18	5.60078e-18	1	1	0
PCLO	27445	broad.mit.edu	37	7	82451886	82451886	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:82451886G>C	ENST00000423517.2	-	20	15053	c.14716C>G	c.(14716-14718)Cag>Gag	p.Q4906E	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.Q4906E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4768					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						AGGTGGGTCTGAGTGACGCTG	0.498000													30	216					0	0	1	0	0
MIR645	693230	broad.mit.edu	37	20	49202373	49202373	+	RNA	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr20:49202373G>C	ENST00000385283.1	+	0	51					NR_030375.1																						tgggggttgaggacccctgCT	0.572000													4	41					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8115719	8115719	+	Silent	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr10:8115719T>A	ENST00000379328.3	+	6	1636	c.1068T>A	c.(1066-1068)acT>acA	p.T356T	GATA3_ENST00000346208.3_Silent_p.T355T|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	355					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.M357fs*14(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GACCCCTGACTATGAAGAAGG	0.398000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						6	40					0	0	1	0	0
TCF23	150921	broad.mit.edu	37	2	27375636	27375636	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:27375636C>A	ENST00000296096.5	+	3	676	c.546C>A	c.(544-546)agC>agA	p.S182R		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	182					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACCCCCAGCCAAAGAACAA	0.557000													33	67					8.4185e-14	1.20522e-13	1	1	0
IGF2BP1	10642	broad.mit.edu	37	17	47120823	47120823	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:47120823G>T	ENST00000290341.3	+	10	1445	c.1111G>T	c.(1111-1113)Gct>Tct	p.A371S	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A232S	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	371	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCTGAACCTGGCTGCTGTAGG	0.597000													36	54					6.97489e-18	1.06722e-17	1	1	0
CCDC132	55610	broad.mit.edu	37	7	92987717	92987717	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:92987717C>A	ENST00000544910.1	+	29	2994	c.2774C>A	c.(2773-2775)gCt>gAt	p.A925D	CCDC132_ENST00000535481.1_Missense_Mutation_p.A675D|CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.A955D	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	955										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTCTAGCAGCTATAGATGAT	0.388000													25	125					7.92952e-12	1.08853e-11	1	1	0
FERD3L	222894	broad.mit.edu	37	7	19184873	19184873	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:19184873G>C	ENST00000275461.3	-	1	171	c.113C>G	c.(112-114)tCc>tGc	p.S38C	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	38					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GTCCCCCAAGGAGACCCCGGG	0.662000													14	36					0	0	1	0	0
ADIG	149685	broad.mit.edu	37	20	37214727	37214727	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr20:37214727C>A	ENST00000537425.1	+	2	236	c.165C>A	c.(163-165)ggC>ggA	p.G55G		NM_001018082.1	NP_001018092.1	Q0VDE8	ADIG_HUMAN	adipogenin	60					brown fat cell differentiation|positive regulation of fat cell differentiation|white fat cell differentiation	cytoplasm|integral to membrane|nucleus				endometrium(1)|kidney(1)	2		Myeloproliferative disorder(115;0.00878)				GGAGCAAAGGCCCAGCTGAGT	0.592000													5	11					0.217242	0.217242	1	1	0
SEMA6A	57556	broad.mit.edu	37	5	115782666	115782666	+	Silent	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:115782666G>A	ENST00000343348.6	-	19	3523	c.2736C>T	c.(2734-2736)taC>taT	p.Y912Y	SEMA6A_ENST00000282394.6_Silent_p.Y389Y|SEMA6A_ENST00000513137.1_Silent_p.Y339Y|SEMA6A_ENST00000510263.1_Silent_p.Y912Y|SEMA6A_ENST00000257414.8_Silent_p.Y929Y|SEMA6A_ENST00000503865.1_Silent_p.Y291Y	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	912					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		AGTCAACCCCGTAGGAAGAGG	0.577000													36	63					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659540	176659540	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:176659540C>T	ENST00000367662.3	+	5	3569	c.2405C>T	c.(2404-2406)cCg>cTg	p.P802L	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P802L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	802					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCAGGGGCTCCGTTCACCAAC	0.567000													8	115					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069370	9069370	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:9069370G>A	ENST00000397910.4	-	3	18279	c.18076C>T	c.(18076-18078)Cat>Tat	p.H6026Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6028	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACAGAGGAATGTAGTTTATGC	0.453000													41	122					0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164761873	164761873	+	Silent	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:164761873T>C	ENST00000420696.2	+	3	596	c.408T>C	c.(406-408)tcT>tcC	p.S136S	PBX1_ENST00000367897.1_Silent_p.S136S|PBX1_ENST00000540246.1_Silent_p.S31S|PBX1_ENST00000540236.1_Silent_p.S136S|PBX1_ENST00000560641.1_Silent_p.S31S|PBX1_ENST00000401534.1_Silent_p.S136S|PBX1_ENST00000559240.1_Silent_p.S136S	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	136					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						cggcggcTTCTGGAGGGGCAG	0.607000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								5	41					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9051430	9051430	+	Splice_Site	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:9051430C>G	ENST00000457346.2	-	19	2578		c.e19+1		SCUBE2_ENST00000520467.1_Splice_Site|SCUBE2_ENST00000450649.2_Splice_Site|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Splice_Site			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2							extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GAGGGACCTACTTTTACACTG	0.478000													9	155					0	0	1	0	0
C14orf177	283598	broad.mit.edu	37	14	99182651	99182651	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr14:99182651C>G	ENST00000325812.2	+	3	542	c.123C>G	c.(121-123)tgC>tgG	p.C41W		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	41										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				AAGGGAAATGCCCAAGTTCTC	0.542000													8	39					0	0	1	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60036664	60036664	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr18:60036664C>T	ENST00000586569.1	+	9	1552	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	TNFRSF11A_ENST00000269485.7_Intron	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	505					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCAAGCTCAGCGAGGGCAGGT	0.632000													5	45					0	0	1	0	0
ZPBP	11055	broad.mit.edu	37	7	50070791	50070791	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:50070791C>A	ENST00000046087.2	-	5	672	c.603G>T	c.(601-603)ctG>ctT	p.L201L	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Silent_p.L200L	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	201					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GGTCAAGAAGCAGTTTGCTTA	0.333000													22	89					2.52088e-20	4.00639e-20	1	1	0
NLRP2	55655	broad.mit.edu	37	19	55494735	55494735	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:55494735T>A	ENST00000543010.1	+	6	1812	c.1669T>A	c.(1669-1671)Tcc>Acc	p.S557T	NLRP2_ENST00000391721.4_Missense_Mutation_p.S533T|NLRP2_ENST00000538819.1_Missense_Mutation_p.S533T|NLRP2_ENST00000448584.2_Missense_Mutation_p.S557T|NLRP2_ENST00000427260.2_Missense_Mutation_p.S534T|NLRP2_ENST00000537859.1_Missense_Mutation_p.S535T|NLRP2_ENST00000339757.7_Missense_Mutation_p.S535T|NLRP2_ENST00000263437.6_Missense_Mutation_p.S554T	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	557					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGGCTACTACTCCTTTGGCCT	0.557000													11	65					0	0	1	0	0
PRCP	5547	broad.mit.edu	37	11	82549566	82549566	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:82549566C>T	ENST00000313010.3	-	8	1331	c.1137G>A	c.(1135-1137)atG>atA	p.M379I	PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000393399.2_Missense_Mutation_p.M400I|PRCP_ENST00000535099.1_Missense_Mutation_p.M274I	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	379					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GAGGTTCAAACATGTCATCGA	0.428000													13	47					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248262885	248262885	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:248262885C>T	ENST00000366478.2	+	3	545	c.208C>T	c.(208-210)Ctg>Ttg	p.L70L	OR2L13_ENST00000358120.2_Silent_p.L70L	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCTTATGGACCTGATGTACAT	0.547000													41	218					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171262116	171262116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:171262116C>A	ENST00000334231.6	+	21	2520	c.2520C>A	c.(2518-2520)tgC>tgA	p.C840*	MYO3B_ENST00000408978.4_Nonsense_Mutation_p.C831*|MYO3B_ENST00000409044.3_Nonsense_Mutation_p.C831*|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	831	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGGAACTGTGCTTTGGCATTC	0.413000													16	68					4.14922e-12	5.72528e-12	1	1	0
SLC8A3	6547	broad.mit.edu	37	14	70634104	70634104	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr14:70634104G>T	ENST00000381269.2	-	2	1789	c.1036C>A	c.(1036-1038)Cac>Aac	p.H346N	SLC8A3_ENST00000534137.1_Missense_Mutation_p.H346N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.H346N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.H346N|SLC8A3_ENST00000528359.1_Missense_Mutation_p.H346N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	346					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)		TTCTGTTGGTGGGAAAGAGCA	0.488000													19	62					2.4624e-09	3.26283e-09	1	1	0
CGNL1	84952	broad.mit.edu	37	15	57734609	57734609	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr15:57734609A>G	ENST00000281282.5	+	4	1814	c.1736A>G	c.(1735-1737)aAc>aGc	p.N579S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	579						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGGAAAGTCAACTTGGTCTTT	0.408000													9	35					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66034066	66034066	+	Silent	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr15:66034066T>C	ENST00000443035.3	-	5	833	c.618A>G	c.(616-618)gtA>gtG	p.V206V	DENND4A_ENST00000431932.2_Silent_p.V206V	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	206	UDENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTTTGTAAGATACAGTGTTCG	0.318000													17	47					0	0	1	0	0
OSCAR	126014	broad.mit.edu	37	19	54598552	54598552	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:54598552G>T	ENST00000358375.4	-	5	771	c.726C>A	c.(724-726)tcC>tcA	p.S242S	OSCAR_ENST00000391761.1_3'UTR|OSCAR_ENST00000351806.4_Silent_p.S231S|OSCAR_ENST00000356532.3_Silent_p.S246S|OSCAR_ENST00000359649.4_3'UTR|OSCAR_ENST00000284648.6_3'UTR	NM_133169.3	NP_573399.1	Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	0						extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GCGCGCCCAGGGAGATGAGGA	0.687000													3	5					0.115264	0.117017	1	1	0
C7orf69	80099	broad.mit.edu	37	7	47857769	47857769	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:47857769T>A	ENST00000418326.2	+	3	310	c.197T>A	c.(196-198)aTg>aAg	p.M66K	C7orf69_ENST00000258776.4_Missense_Mutation_p.M85K|PKD1L1_ENST00000289672.2_Intron			Q9H7B7	CG069_HUMAN	chromosome 7 open reading frame 69	85						extracellular region				lung(2)	2						AGAACACAGATGGAGACAGAG	0.488000													4	42					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40065831	40065831	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:40065831C>A	ENST00000352035.2	-	5	598	c.468G>T	c.(466-468)gtG>gtT	p.V156V	ACLY_ENST00000353196.1_Silent_p.V156V|ACLY_ENST00000590151.1_Silent_p.V156V|ACLY_ENST00000393896.2_Silent_p.V156V|ACLY_ENST00000537919.1_Intron	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	156					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GTTTCTCATCCACGCCAACAA	0.567000													13	99					0.00185496	0.00197714	1	1	0
MTSS1	9788	broad.mit.edu	37	8	125716416	125716416	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr8:125716416C>A	ENST00000518547.1	-	2	562	c.89G>T	c.(88-90)tGg>tTg	p.W30L	MTSS1_ENST00000325064.5_Missense_Mutation_p.W30L|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000378017.3_Missense_Mutation_p.W30L	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	30	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GAAATCTTCCCAAACTGGATA	0.438000													9	127					1.76689e-08	2.26264e-08	1	1	0
TMC3	342125	broad.mit.edu	37	15	81624961	81624961	+	Missense_Mutation	SNP	G	G	T	rs115607037	by1000genomes	TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr15:81624961G>T	ENST00000558726.1	-	22	3240	c.3105C>A	c.(3103-3105)ttC>ttA	p.F1035L	TMC3_ENST00000359440.5_Missense_Mutation_p.F1034L|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	1034						integral to membrane		p.F1038F(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGGATGGCTCGAACCTGGGCT	0.607000													4	22					0.00909568	0.00952371	1	1	0
SORBS2	8470	broad.mit.edu	37	4	186544784	186544784	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr4:186544784G>C	ENST00000431808.1	-	14	2350	c.1787C>G	c.(1786-1788)tCc>tGc	p.S596C	SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.S596C|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.S500C|SORBS2_ENST00000355634.5_Missense_Mutation_p.S696C|SORBS2_ENST00000319471.9_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	596						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GTCGCTGTCGGAAAACTCCAC	0.587000													7	48					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686347	100686347	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:100686347A>G	ENST00000306151.4	+	3	11714	c.11650A>G	c.(11650-11652)Aca>Gca	p.T3884A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3884						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)					TGTCAGCACCACACTTCCAAC	0.478000													14	160					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553848	140553848	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:140553848A>T	ENST00000231137.3	+	1	1606	c.1432A>T	c.(1432-1434)Aga>Tga	p.R478*		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		478	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCACAGACAGAGACTCGGG	0.642000													37	81					0	0	1	0	0
CYP3A5	1577	broad.mit.edu	37	7	99264642	99264642	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:99264642T>A	ENST00000343703.5	-	6	721	c.335A>T	c.(334-336)gAg>gTg	p.E112V	CYP3A5_ENST00000222982.4_Missense_Mutation_p.E122V|CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000339843.2_3'UTR					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					TTCTTCATCCTCAGCTAAAGA	0.393000													8	77					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67433734	67433734	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chrX:67433734C>A	ENST00000355520.5	-	7	1208	c.567G>T	c.(565-567)caG>caT	p.Q189H	OPHN1_ENST00000540071.1_Missense_Mutation_p.Q189H	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	189					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TCTTGGACTCCTGAACTTCCT	0.373000													5	9					0.184627	0.186021	1	1	0
OPTC	26254	broad.mit.edu	37	1	203468946	203468946	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:203468946C>A	ENST00000367222.2	+	5	815	c.699C>A	c.(697-699)ctC>ctA	p.L233L		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	233						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			TAAATCGGCTCCAGAGCTCGG	0.582000													27	87					6.12954e-19	9.62698e-19	1	1	0
FCRLA	84824	broad.mit.edu	37	1	161681008	161681008	+	Silent	SNP	C	C	A	rs142998045		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:161681008C>A	ENST00000367959.2	+	4	554	c.312C>A	c.(310-312)atC>atA	p.I104I	FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000236938.6_Silent_p.I98I|FCRLA_ENST00000367953.3_Silent_p.I87I|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000349527.4_Silent_p.I81I|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000540926.1_Silent_p.I87I	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	81	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ACTGGCTGATCCTCCAAGGTC	0.592000													30	31					9.65021e-13	1.35255e-12	1	1	0
HUS1B	135458	broad.mit.edu	37	6	656832	656832	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr6:656832C>A	ENST00000380907.2	-	1	131	c.113G>T	c.(112-114)aGc>aTc	p.S38I	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	38										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GAAGCACAGGCTGTCAGGGCG	0.672000													6	16					3.59834e-05	4.08832e-05	1	1	0
KRT82	3888	broad.mit.edu	37	12	52797629	52797629	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:52797629C>T	ENST00000257974.2	-	2	553	c.476G>A	c.(475-477)aGg>aAg	p.R159K		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	159	Linker 1.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CTGGCAGCACCTCTGCTGCTG	0.582000													8	48					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39227571	39227571	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr3:39227571C>T	ENST00000340369.3	-	2	3594	c.3366G>A	c.(3364-3366)agG>agA	p.R1122R	XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1122							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTTGCTCTTCCCTACTGACCT	0.607000													5	65					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137501760	137501760	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:137501760C>A	ENST00000254900.5	-	11	1406	c.1035G>T	c.(1033-1035)gtG>gtT	p.V345V	BRD8_ENST00000402931.1_Silent_p.V345V|BRD8_ENST00000411594.2_Silent_p.V348V|BRD8_ENST00000230901.5_Silent_p.V418V|BRD8_ENST00000455658.2_Silent_p.V304V	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	345					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTGGATCCCCCACAGCCTCCA	0.458000													36	65					5.71845e-15	8.36617e-15	1	1	0
CTSO	1519	broad.mit.edu	37	4	156850800	156850800	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr4:156850800T>C	ENST00000433477.3	-	6	801	c.732A>G	c.(730-732)atA>atG	p.I244M		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	244					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CTGCATCTACTATGACTACCA	0.388000													8	72					0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27077157	27077157	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:27077157G>T	ENST00000263182.3	+	3	548	c.180G>T	c.(178-180)gtG>gtT	p.V60V	RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000529202.1_Silent_p.V60V|BBOX1_ENST00000525090.1_Silent_p.V60V|BBOX1_ENST00000528583.1_Silent_p.V60V|BBOX1_ENST00000527505.1_3'UTR	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	60					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	CTCTTGATGTGAACATTGGAA	0.408000													12	33					2.61681e-11	3.54665e-11	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103471818	103471818	+	Splice_Site	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:103471818C>A	ENST00000358392.2	-	16	2090	c.1773_splice	c.e16+1	p.R591_splice	COL11A1_ENST00000370096.3_Splice_Site_p.R579_splice|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Splice_Site_p.R540_splice|COL11A1_ENST00000512756.1_Splice_Site_p.R463_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	579	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TAAGCCATACCCTTTTTCCAG	0.353000													14	69					8.60227e-14	1.22824e-13	1	1	0
ABL1	25	broad.mit.edu	37	9	133759424	133759424	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:133759424G>A	ENST00000318560.5	+	11	2128	c.1747G>A	c.(1747-1749)Ggc>Agc	p.G583S		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	583					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CCCGGAGGGCGGCCTGAATGA	0.552000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								49	125					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5054660	5054660	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:5054660C>A	ENST00000381652.3	+	7	1206	c.712C>A	c.(712-714)Cag>Aag	p.Q238K	JAK2_ENST00000544510.1_Missense_Mutation_p.Q89K|JAK2_ENST00000539801.1_Missense_Mutation_p.Q238K	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	238	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		CAGATTTATTCAGCAATTCAG	0.368000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				15	93					1.37285e-15	2.0364e-15	1	1	0
THBS2	7058	broad.mit.edu	37	6	169622404	169622404	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr6:169622404G>T	ENST00000366787.3	-	20	3410	c.3161C>A	c.(3160-3162)cCc>cAc	p.P1054H	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1054	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGCCCGCGTGGGCTGGTCCTC	0.627000													19	15					2.94398e-08	3.72532e-08	1	1	0
RHOH	399	broad.mit.edu	37	4	40245386	40245386	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr4:40245386G>T	ENST00000381799.4	+	3	1104	c.380G>T	c.(379-381)aGg>aTg	p.R127M	RHOH_ENST00000505618.1_Missense_Mutation_p.R127M	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	127					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						GGGCCCCACAGGGCCTCCTGC	0.582000													17	36					9.16793e-09	1.18253e-08	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238245021	238245021	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:238245021C>T	ENST00000295550.4	-	40	9174	c.8722G>A	c.(8722-8724)Gcc>Acc	p.A2908T	COL6A3_ENST00000353578.4_Missense_Mutation_p.A2702T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2708T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A2301T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2702T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2707T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2908	Ala-rich.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTTGCAGCGGCTGGCTTCACA	0.577000													10	186					0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76356386	76356386	+	Silent	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:76356386A>T	ENST00000263187.3	+	17	2336	c.2232A>T	c.(2230-2232)gcA>gcT	p.A744A		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	744					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ttCAGATAGCATATATTCTAC	0.308000								Mismatch excision repair (MMR)					6	24					0	0	1	0	0
OR1A2	26189	broad.mit.edu	37	17	3101695	3101695	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:3101695A>T	ENST00000381951.1	+	1	883	c.883A>T	c.(883-885)Atg>Ttg	p.M295L		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						AAATTGGGATATGAAGGCAGC	0.453000													57	51					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25457247	25457247	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr20:25457247C>A	ENST00000278886.6	-	17	2753	c.2680G>T	c.(2680-2682)Gcc>Tcc	p.A894S	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	894					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGGGCAGGGGCGGGGGCCGGG	0.687000													7	14					5.18039e-06	6.04002e-06	1	1	0
BCLAF1	9774	broad.mit.edu	37	6	136599608	136599608	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr6:136599608C>T	ENST00000531224.1	-	4	663	c.411G>A	c.(409-411)agG>agA	p.R137R	BCLAF1_ENST00000530767.1_Silent_p.R137R|BCLAF1_ENST00000527536.1_Silent_p.R137R|BCLAF1_ENST00000392348.2_Silent_p.R135R|BCLAF1_ENST00000353331.4_Silent_p.R135R|BCLAF1_ENST00000527759.1_Silent_p.R135R	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	137					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATCTTGGAGACCTAGAAGATC	0.443000													53	308					0	0	1	0	0
EVI2B	2124	broad.mit.edu	37	17	29631427	29631427	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:29631427G>A	ENST00000330927.4	-	2	1355	c.1201C>T	c.(1201-1203)Ctt>Ttt	p.L401F	EVI2B_ENST00000577894.1_Missense_Mutation_p.L401F|EVI2B_ENST00000544462.1_Missense_Mutation_p.L416F|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	401						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		GGCAAGTTAAGTGAGTCAAGC	0.418000													45	72					0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153473647	153473647	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:153473647A>C	ENST00000288670.9	+	13	1622	c.1255A>C	c.(1255-1257)Aag>Cag	p.K419Q		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	419	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AGCCATGTCCAAGATTGTGGA	0.443000													12	53					0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57662237	57662237	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:57662237G>A	ENST00000402412.1	-	18	2269	c.1879C>T	c.(1879-1881)Cca>Tca	p.P627S	R3HDM2_ENST00000546843.1_5'UTR|R3HDM2_ENST00000441731.2_Missense_Mutation_p.P308S|R3HDM2_ENST00000413953.2_Missense_Mutation_p.P340S|R3HDM2_ENST00000403821.2_Missense_Mutation_p.P647S|R3HDM2_ENST00000393811.2_Missense_Mutation_p.P340S|R3HDM2_ENST00000358907.2_Missense_Mutation_p.P613S|R3HDM2_ENST00000347140.3_Missense_Mutation_p.P613S|RP11-123K3.4_ENST00000548184.1_RNA			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	613	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTACCCACTGGAACCTGGGTG	0.532000													12	45					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179659191	179659191	+	Missense_Mutation	SNP	C	C	T	rs142414432	byFrequency	TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:179659191C>T	ENST00000589042.1	-	8	1557	c.1333G>A	c.(1333-1335)Gct>Act	p.A445T	TTN_ENST00000359218.5_Missense_Mutation_p.A445T|TTN_ENST00000591111.1_Missense_Mutation_p.A445T|TTN_ENST00000360870.5_Missense_Mutation_p.A445T|TTN_ENST00000460472.2_Missense_Mutation_p.A445T|TTN_ENST00000342992.6_Missense_Mutation_p.A445T|TTN_ENST00000342175.6_Missense_Mutation_p.A445T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	445							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)			TGCTCTACAGCGCTGATCACT	0.532000													9	164					0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125281709	125281709	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:125281709G>T	ENST00000340750.1	+	1	290	c.290G>T	c.(289-291)tGt>tTt	p.C97F		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TATGCAGGGTGTGTAACTCAG	0.423000													75	162					1.07363e-35	1.83756e-35	1	1	0
DDR2	4921	broad.mit.edu	37	1	162740157	162740157	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:162740157G>C	ENST00000367922.2	+	13	1797	c.1359G>C	c.(1357-1359)atG>atC	p.M453I	DDR2_ENST00000367921.3_Missense_Mutation_p.M453I	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	453					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ATTCTAGCATGTTCAACAATA	0.517000													25	193					0	0	1	0	0
LINC00922	283867	broad.mit.edu	37	16	65397156	65397156	+	RNA	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr16:65397156G>T	ENST00000569736.1	-	0	524				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1																						AGTAGAGAATGCTGATGGTAA	0.423000													28	28					3.73988e-18	5.77196e-18	1	1	0
OR2F1	26211	broad.mit.edu	37	7	143657479	143657479	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:143657479G>T	ENST00000392899.1	+	1	453	c.416G>T	c.(415-417)gGg>gTg	p.G139V		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ATGCATGGAGGGCTGTGTGCT	0.557000													7	117					2.7689e-08	3.51209e-08	1	1	0
TOR1AIP2	163590	broad.mit.edu	37	1	179833976	179833976	+	Silent	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:179833976T>C	ENST00000553856.1	-	1	335	c.336A>G	c.(334-336)ttA>ttG	p.L112L	TOR1AIP2_ENST00000482587.1_5'UTR|TOR1AIP2_ENST00000367612.3_Intron	NM_022347.3	NP_071742.1																					AGATTAACTGTAATGCAGGGT	0.383000													38	140					0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56412910	56412910	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr18:56412910G>A	ENST00000348428.3	+	16	2182	c.1924G>A	c.(1924-1926)Gat>Aat	p.D642N	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.D631N	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	642					activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TCTAGATATTGATCCAAAAGA	0.348000			T	BIRC3	MALT								3	25					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126329632	126329632	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr4:126329632A>T	ENST00000394329.3	+	4	5616	c.5603A>T	c.(5602-5604)gAt>gTt	p.D1868V	FAT4_ENST00000335110.5_Missense_Mutation_p.D166V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1868	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCACGGATGATGACTCTGGT	0.328000													7	81					0	0	1	0	0
CASP2	835	broad.mit.edu	37	7	142997328	142997328	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:142997328C>T	ENST00000310447.5	+	8	1149	c.908C>T	c.(907-909)gCc>gTc	p.A303V	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	303					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					TTTGACAACGCCAACTGCCCA	0.527000													7	79					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554054	140554054	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:140554054G>T	ENST00000231137.3	+	1	1812	c.1638G>T	c.(1636-1638)ctG>ctT	p.L546L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		546	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGAGGCGCTGGTGCGCGTGC	0.711000													5	64					0.217242	0.217242	1	1	0
ZBED6CL	113763	broad.mit.edu	37	7	150027807	150027807	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:150027807A>G	ENST00000343855.4	+	1	870	c.314A>G	c.(313-315)tAc>tGc	p.Y105C	LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000359623.4_Intron	NM_138434.2	NP_612443.1			ZBED6 C-terminal like																		GTCCTCGTGTACAAGGTGAAG	0.577000													10	73					0	0	1	0	0
CLNK	116449	broad.mit.edu	37	4	10542121	10542121	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr4:10542121G>T	ENST00000226951.6	-	11	838	c.599C>A	c.(598-600)cCc>cAc	p.P200H	CLNK_ENST00000507719.1_Missense_Mutation_p.P158H|CLNK_ENST00000442825.2_Missense_Mutation_p.P158H	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	200					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						CTCTCACCTGGGCATTCTCTG	0.522000													6	34					0.0293803	0.0300558	1	1	0
AGBL5	60509	broad.mit.edu	37	2	27278943	27278943	+	Silent	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:27278943T>C	ENST00000360131.4	+	7	1461	c.1302T>C	c.(1300-1302)caT>caC	p.H434H	AGBL5_ENST00000323064.8_Silent_p.H434H	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	434					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGACCTGCATGGACATGCTT	0.512000													30	239					0	0	1	0	0
SLC23A1	9963	broad.mit.edu	37	5	138716250	138716250	+	Missense_Mutation	SNP	C	C	A	rs142534689		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:138716250C>A	ENST00000353963.3	-	5	507	c.469G>T	c.(469-471)Ggt>Tgt	p.G157C	SLC23A1_ENST00000348729.3_Intron	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	156					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	ACATGCAAACCCACCTCCCGT	0.572000													12	42					1.61879e-10	2.18292e-10	1	1	0
KLHL32	114792	broad.mit.edu	37	6	97562130	97562130	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr6:97562130A>G	ENST00000369261.4	+	7	1462	c.1099A>G	c.(1099-1101)Act>Gct	p.T367A	KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000536676.1_Missense_Mutation_p.T331A|KLHL32_ENST00000539200.1_Missense_Mutation_p.T298A	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	367										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TGCTGTGAGGACTGCCTGTCG	0.572000													23	28					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7059831	7059831	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:7059831C>T	ENST00000299481.4	+	2	360	c.14C>T	c.(13-15)tCa>tTa	p.S5L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	5	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCAGATTCATCATCATCTTCT	0.368000													11	96					0	0	1	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185390392	185390392	+	Silent	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr3:185390392G>A	ENST00000382199.2	-	10	1232	c.1137C>T	c.(1135-1137)tcC>tcT	p.S379S	IGF2BP2_ENST00000494906.1_Intron|IGF2BP2_ENST00000346192.3_Intron|IGF2BP2_ENST00000457616.2_Silent_p.S385S|IGF2BP2_ENST00000421047.2_Silent_p.S322S	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	379					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GAGATAGCACGGACAGTCCTG	0.552000													13	15					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47042821	47042821	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr3:47042821G>A	ENST00000450053.3	+	29	4716	c.4537G>A	c.(4537-4539)Gtg>Atg	p.V1513M	NBEAL2_ENST00000292309.5_Missense_Mutation_p.V1329M|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1513							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGAGGCCCCCGTGGGGGTCCT	0.607000													25	33					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20070445	20070445	+	Silent	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:20070445G>A	ENST00000396085.1	+	15	4435	c.4074G>A	c.(4072-4074)aaG>aaA	p.K1358K	NAV2_ENST00000360655.4_Silent_p.K1294K|NAV2_ENST00000349880.4_Silent_p.K1358K|NAV2_ENST00000540292.1_Silent_p.K1312K|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000396087.3_Silent_p.K1381K|NAV2_ENST00000311043.8_Silent_p.K444K|NAV2_ENST00000527559.2_Silent_p.K1310K|NAV2_ENST00000533917.1_Silent_p.K444K	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1381						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCTACAGCAAGAATGTGGACC	0.612000													18	86					0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99366022	99366022	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:99366022T>C	ENST00000354593.2	-	2	278	c.175A>G	c.(175-177)Aag>Gag	p.K59E	CYP3A4_ENST00000336411.2_Missense_Mutation_p.K209E			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	209					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CTTAAAAGCTTCTTGGTGTTT	0.373000													14	100					0	0	1	0	0
CC2D2B	387707	broad.mit.edu	37	10	97773580	97773580	+	Silent	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr10:97773580T>C	ENST00000344386.3	+	5	518	c.354T>C	c.(352-354)ttT>ttC	p.F118F	ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.F118F|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000452728.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	118										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TGATTCCTTTTGTGCCTAATA	0.308000													19	26					0	0	1	0	0
RPS16	6217	broad.mit.edu	37	19	39924275	39924275	+	Missense_Mutation	SNP	T	T	C	rs11555713		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:39924275T>C	ENST00000339471.4	-	3	317	c.277A>G	c.(277-279)Agg>Ggg	p.R93G	RPS16_ENST00000601655.1_Intron|RPS16_ENST00000251453.3_Intron|RPS16_ENST00000599539.1_Intron			P62249	RS16_HUMAN	ribosomal protein S16	0					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2)	7	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGAGCCACCTCCTCCATGCG	0.567000													18	55					0	0	1	0	0
SMARCD2	6603	broad.mit.edu	37	17	61911557	61911557	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:61911557C>G	ENST00000448276.2	-	8	1318	c.1053G>C	c.(1051-1053)gaG>gaC	p.E351D	SMARCD2_ENST00000323347.10_Missense_Mutation_p.E303D|SMARCD2_ENST00000225742.9_Missense_Mutation_p.E276D	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	351	SWIB.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						AGTTGATGTACTCCCGCTCGT	0.602000											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	7					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28666625	28666625	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr18:28666625C>A	ENST00000280904.6	-	7	1299	c.856G>T	c.(856-858)Ggg>Tgg	p.G286W	DSC2_ENST00000251081.6_Missense_Mutation_p.G286W	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	286	Cadherin 2.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GGCACCTGCCCAATGATGGAG	0.473000													24	77					7.87624e-14	1.13367e-13	1	1	0
INTS4	92105	broad.mit.edu	37	11	77702195	77702195	+	Missense_Mutation	SNP	C	C	T	rs144227709		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:77702195C>T	ENST00000534064.1	-	2	239	c.205G>A	c.(205-207)Gta>Ata	p.V69I	INTS4_ENST00000527522.1_Missense_Mutation_p.V69I|INTS4_ENST00000529807.1_Missense_Mutation_p.V69I	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	69					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			ACTCCCTCTACGCTTTCCGCC	0.463000													14	88					0	0	1	0	0
REG3A	5068	broad.mit.edu	37	2	79385590	79385590	+	Splice_Site	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:79385590C>T	ENST00000393878.1	-	3	450		c.e3-1		REG3A_ENST00000409839.3_Splice_Site|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Splice_Site	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha						acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.?(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GGCAGGCCAGCTTTGAGGGCA	0.567000													7	76					0	0	1	0	0
CKAP2	26586	broad.mit.edu	37	13	53049190	53049190	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr13:53049190A>T	ENST00000378037.5	+	9	2056	c.1966A>T	c.(1966-1968)Acg>Tcg	p.T656S	CKAP2_ENST00000490903.1_Missense_Mutation_p.T607S|CKAP2_ENST00000258607.5_Missense_Mutation_p.T655S	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	656					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		GGAACAGCTAACGGAGTTGGG	0.423000													23	90					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54647834	54647834	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:54647834C>A	ENST00000406403.1	+	5	1954	c.351C>A	c.(349-351)gcC>gcA	p.A117A	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Silent_p.A117A			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	117					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TAGATCCTGCCCAGAAGGAGA	0.552000													8	65					5.18039e-06	6.04002e-06	1	1	0
PKD1L1	168507	broad.mit.edu	37	7	47955083	47955083	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:47955083C>G	ENST00000289672.2	-	8	1224	c.1174G>C	c.(1174-1176)Gaa>Caa	p.E392Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	392					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						tctgagtcttccaggcagctg	0.393000													17	88					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192250719	192250719	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:192250719A>G	ENST00000392318.3	+	16	1710	c.1463A>G	c.(1462-1464)cAt>cGt	p.H488R	MYO1B_ENST00000304164.4_Missense_Mutation_p.H488R|MYO1B_ENST00000392316.1_Missense_Mutation_p.H488R|MYO1B_ENST00000339514.4_Missense_Mutation_p.H488R	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	488	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ACCCACCAGCATTTTGAGAGC	0.522000													45	208					0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12186282	12186282	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:12186282T>G	ENST00000263932.2	+	12	1520	c.1298T>G	c.(1297-1299)cTa>cGa	p.L433R	TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000417814.2_Missense_Mutation_p.L322R|TNFRSF8_ENST00000413146.2_5'UTR	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	433					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCCCAAGCTAGAGCTTGTG	0.657000													11	75					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174447	207174447	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:207174447T>G	ENST00000374423.3	+	5	5581	c.5195T>G	c.(5194-5196)cTa>cGa	p.L1732R		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1732							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CGTTCGAAGCTAAAACATAGA	0.448000													6	64					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84659957	84659957	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr15:84659957C>A	ENST00000286744.5	+	23	4188	c.3964C>A	c.(3964-3966)Cct>Act	p.P1322T	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P1322T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1322	Ig-like C2-type 3.					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)			AATCCGATGTCCTGTAAAAGG	0.502000													75	99					8.27458e-37	1.42078e-36	1	1	0
ZNF618	114991	broad.mit.edu	37	9	116811305	116811305	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:116811305C>A	ENST00000288466.7	+	14	1543	c.1444C>A	c.(1444-1446)Cac>Aac	p.H482N	ZNF618_ENST00000374126.5_Missense_Mutation_p.H575N|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CGAGGGCAACCACATCAAGAG	0.597000													10	22					4.68919e-08	5.85053e-08	1	1	0
CPZ	8532	broad.mit.edu	37	4	8621184	8621184	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr4:8621184C>A	ENST00000429646.2	+	9	3416	c.623C>A	c.(622-624)cCc>cAc	p.P208H	CPZ_ENST00000360986.4_Missense_Mutation_p.P600H|CPZ_ENST00000382480.2_Missense_Mutation_p.P463H|CPZ_ENST00000315782.6_Missense_Mutation_p.P589H			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	600					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						AGGACTGGGCCCCACGACCCA	0.677000													15	27					1.2644e-06	1.51729e-06	1	1	0
CNR2	1269	broad.mit.edu	37	1	24202088	24202088	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:24202088G>T	ENST00000536471.1	-	3	278	c.20C>A	c.(19-21)aCa>aAa	p.T7K	CNR2_ENST00000374472.4_Missense_Mutation_p.T7K			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	7					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GGCTATCTCTGTCACCCAGCA	0.483000													41	93					9.39024e-22	1.52413e-21	1	1	0
OR2A1	346528	broad.mit.edu	37	7	144015486	144015486	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:144015486C>A	ENST00000408951.1	+	1	269	c.269C>A	c.(268-270)cCc>cAc	p.P90H	RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000496968.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000467944.1_RNA|RP4-798C17.6_ENST00000475089.1_RNA|RP4-798C17.6_ENST00000486094.1_RNA|RP4-798C17.6_ENST00000493539.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000488041.1_RNA	NM_001005287.1	NP_001005287.1	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 1	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					CCAGCCAAGCCCATCTCCTTT	0.562000													12	227					1.5842e-08	2.03846e-08	1	1	0
OR2G2	81470	broad.mit.edu	37	1	247752559	247752559	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:247752559G>C	ENST00000320065.1	+	1	898	c.898G>C	c.(898-900)Gtg>Ctg	p.V300L	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GATCAAGGAGGTGAAAGGGGC	0.368000													42	118					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114386709	114386709	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:114386709C>A	ENST00000545145.2	-	10	1283	c.1205G>T	c.(1204-1206)gGa>gTa	p.G402V	RBM19_ENST00000392561.3_Missense_Mutation_p.G402V|RBM19_ENST00000261741.5_Missense_Mutation_p.G402V	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	402	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					AAAGAGCCTTCCGGATTCGGC	0.582000													14	85					2.62699e-14	3.80166e-14	1	1	0
PCDHB3	56132	broad.mit.edu	37	5	140481673	140481673	+	Silent	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:140481673A>T	ENST00000231130.2	+	1	1440	c.1440A>T	c.(1438-1440)tcA>tcT	p.S480S	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		480	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGAGACTCAGGCACCAACG	0.647000													56	201					0	0	1	0	0
CEP78	84131	broad.mit.edu	37	9	80858483	80858483	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:80858483A>T	ENST00000424347.2	+	5	998	c.709A>T	c.(709-711)Aac>Tac	p.N237Y	CEP78_ENST00000415759.2_Missense_Mutation_p.N237Y|CEP78_ENST00000376597.4_Missense_Mutation_p.N237Y|CEP78_ENST00000376598.2_Missense_Mutation_p.N237Y|CEP78_ENST00000277082.5_Missense_Mutation_p.N237Y			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	237				CN -> GY (in Ref. 3; BAB14190).	G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						ACTGAATTGCAACACACTTAT	0.443000													12	51					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21201776	21201776	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:21201776C>G	ENST00000342679.4	+	2	350	c.101C>G	c.(100-102)cCc>cGc	p.P34R	MAP2K3_ENST00000316920.6_Missense_Mutation_p.P5R|MAP2K3_ENST00000361818.5_Missense_Mutation_p.P5R	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	34					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TCCAAGCCACCCGCACCCAAC	0.562000													19	122					0	0	1	0	0
PACS2	23241	broad.mit.edu	37	14	105814896	105814896	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr14:105814896G>T	ENST00000447393.1	+	2	361	c.186G>T	c.(184-186)gtG>gtT	p.V62V	PACS2_ENST00000547217.1_Silent_p.V62V|PACS2_ENST00000430725.2_5'UTR|PACS2_ENST00000325438.8_Silent_p.V62V|PACS2_ENST00000458164.2_Silent_p.V62V	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	62					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TGATCTCCGTGGTGATCGCTG	0.612000													15	49					0.000422831	0.000458927	1	1	0
ZNF733P	643955	broad.mit.edu	37	7	62751996	62751996	+	RNA	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:62751996C>G	ENST00000331425.6	-	0	1439					NR_003952.1																						TGTAGGGTTTCTCTCCAGTAT	0.398000													8	90					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655749	40655749	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:40655749C>A	ENST00000406785.1	-	2	1861	c.1672G>T	c.(1672-1674)Gtg>Ttg	p.V558L	SLC8A1_ENST00000406391.2_Missense_Mutation_p.V558L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.V558L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.V558L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.V558L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.V558L|SLC8A1_ENST00000403092.1_Missense_Mutation_p.V558L|SLC8A1_ENST00000542756.1_Missense_Mutation_p.V558L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.V558L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V558L			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	558	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AATACTTTCACCTCCATGATG	0.458000													14	130					1.49906e-05	1.71781e-05	1	1	0
RP11-24M17.5	0	broad.mit.edu	37	15	76067987	76067987	+	RNA	SNP	A	A	G	rs34243492	by1000genomes	TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr15:76067987A>G	ENST00000395215.3	+	0	94																											GAAGAAACTCAACAGAGTAAA	0.537000													3	28					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98409004	98409004	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:98409004G>A	ENST00000186436.5	-	31	4217	c.3989C>T	c.(3988-3990)tCc>tTc	p.S1330F		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1330	Pro-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTCTGGGTGGGAAGGGTGTGC	0.647000													4	27					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95081052	95081052	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr14:95081052C>T	ENST00000553947.1	+	5	1237	c.349C>T	c.(349-351)Cat>Tat	p.H117Y	SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393080.4_Missense_Mutation_p.H92Y|SERPINA3_ENST00000467132.1_Missense_Mutation_p.H92Y|SERPINA3_ENST00000393078.3_Missense_Mutation_p.H92Y			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	92					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TCTGGGGGCCCATAATACCAC	0.542000													14	86					0	0	1	0	0
KCNE4	23704	broad.mit.edu	37	2	223917638	223917638	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:223917638C>A	ENST00000281830.3	+	2	574	c.243C>A	c.(241-243)agC>agA	p.S81R	KCNE4_ENST00000604125.1_Missense_Mutation_p.S30R|KCNE4_ENST00000488477.2_Intron			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	30						integral to membrane	voltage-gated potassium channel activity			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCGGCGGCAGCGGCAATGGCA	0.597000													28	57					1.5548e-18	2.41356e-18	1	1	0
TP53	7157	broad.mit.edu	37	17	7576897	7576897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:7576897G>A	ENST00000420246.2	-	9	1081	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	TP53_ENST00000445888.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q317*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	317	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q317*(29)|p.0?(8)|p.Q317K(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317fs*28(1)|p.Q317fs*45(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCTTTGGCTGGGGAGAGGAG	0.473000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	37					0	0	1	0	0
ACTL7A	10881	broad.mit.edu	37	9	111625106	111625106	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:111625106G>T	ENST00000333999.3	+	1	504	c.504G>T	c.(502-504)ttG>ttT	p.L168F		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	168						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATGCGGTCTTGGTTTCAGACC	0.522000													18	61					1.33834e-09	1.78222e-09	1	1	0
PLCL1	5334	broad.mit.edu	37	2	198950576	198950576	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:198950576G>T	ENST00000428675.1	+	2	2733	c.2335G>T	c.(2335-2337)Gat>Tat	p.D779Y	PLCL1_ENST00000437704.2_Missense_Mutation_p.D681Y	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	779	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TCCTATTTTTGATGAAACTTT	0.388000													26	133					4.7796e-09	6.24036e-09	1	1	0
SSUH2	51066	broad.mit.edu	37	3	8672548	8672548	+	Silent	SNP	A	A	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr3:8672548A>C	ENST00000317371.4	-	13	1627	c.402T>G	c.(400-402)ccT>ccG	p.P134P	SSUH2_ENST00000341795.3_Silent_p.P134P|SSUH2_ENST00000415132.1_Silent_p.P134P|SSUH2_ENST00000544814.1_Silent_p.P156P					ssu-2 homolog (C. elegans)																		GAAACATCGGAGGACCTTGAA	0.532000													27	34					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98187196	98187196	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:98187196G>C	ENST00000370192.3	-	5	453	c.353C>G	c.(352-354)tCt>tGt	p.S118C	DPYD_ENST00000423006.2_Missense_Mutation_p.S81C|DPYD_ENST00000306031.5_Missense_Mutation_p.S118C|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	118					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGGGTTGTCAGAAAATATCAT	0.338000													19	108					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115760534	115760534	+	Splice_Site	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr4:115760534C>T	ENST00000264363.2	-	11	2964	c.2286_splice	c.e11+1	p.Q762_splice		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	762	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGGACATTACCTGAGAAGTAG	0.333000													16	82					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040344	31040344	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:31040344C>T	ENST00000355537.3	+	4	3965	c.3818C>T	c.(3817-3819)tCt>tTt	p.S1273F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.S1273F(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCTACAGTTCTGATGGCTTA	0.557000													8	53					0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71124472	71124472	+	Silent	SNP	G	G	T	rs150993636		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr15:71124472G>T	ENST00000299213.8	-	3	1465	c.1395C>A	c.(1393-1395)ccC>ccA	p.P465P		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	465					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						GCACCCCTACGGGTAGCCCAT	0.577000													24	68					1.36565e-18	2.13232e-18	1	1	0
CPED1	79974	broad.mit.edu	37	7	120876791	120876791	+	Silent	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:120876791A>T	ENST00000310396.5	+	17	2546	c.2079A>T	c.(2077-2079)ccA>ccT	p.P693P	CPED1_ENST00000423795.1_Silent_p.P473P|CPED1_ENST00000450913.2_Silent_p.P693P	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TGATTCATCCAGAGGAAACCT	0.333000													13	77					0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24931498	24931498	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr16:24931498G>C	ENST00000289968.6	-	20	2668	c.2599C>G	c.(2599-2601)Cgc>Ggc	p.R867G	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.R789G	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	867					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AGCAGGATGCGGCCAGGCACG	0.552000													15	75					0	0	1	0	0
TNFAIP1	7126	broad.mit.edu	37	17	26667374	26667374	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:26667374C>A	ENST00000226225.2	+	3	512	c.245C>A	c.(244-246)aCc>aAc	p.T82N	TNFAIP1_ENST00000544907.2_5'UTR|TNFAIP1_ENST00000583213.1_Intron	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	82	BTB.				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CACTTTGGCACCATTTTGAAT	0.522000													33	90					2.20262e-25	3.64148e-25	1	1	0
SLC22A23	63027	broad.mit.edu	37	6	3410511	3410511	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr6:3410511G>A	ENST00000436008.2	-	3	1286	c.824C>T	c.(823-825)gCa>gTa	p.A275V	SLC22A23_ENST00000380302.4_5'UTR|SLC22A23_ENST00000490273.1_5'UTR|SLC22A23_ENST00000406686.3_Missense_Mutation_p.A275V|SLC22A23_ENST00000380298.2_Missense_Mutation_p.A275V			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	275					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				CACTGACAGTGCCACAGTCAG	0.468000													14	28					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15290663	15290663	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr10:15290663C>A	ENST00000378116.4	-	5	735	c.729G>T	c.(727-729)gcG>gcT	p.A243A	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	243						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						ACCGCCACGCCGCGACATAGG	0.557000													12	57					0.00185496	0.00197714	1	1	0
PEX6	5190	broad.mit.edu	37	6	42934550	42934550	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr6:42934550C>A	ENST00000304611.8	-	9	2000	c.1931G>T	c.(1930-1932)cGg>cTg	p.R644L	PEX6_ENST00000244546.4_Missense_Mutation_p.R644L	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	644					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GCAGGCTGCCCGGCTGCTGTG	0.577000													76	140					6.06247e-24	9.9611e-24	1	1	0
PHLPP2	23035	broad.mit.edu	37	16	71703215	71703215	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr16:71703215C>G	ENST00000393524.2	-	10	2324	c.1591G>C	c.(1591-1593)Gat>Cat	p.D531H	PHLPP2_ENST00000567016.1_Missense_Mutation_p.D566H|PHLPP2_ENST00000568954.1_Missense_Mutation_p.D531H|PHLPP2_ENST00000356272.3_Missense_Mutation_p.D531H|PHLPP2_ENST00000360429.3_Missense_Mutation_p.D531H			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	531						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TAGCTCACATCTAATACTTCT	0.378000													10	70					0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27061972	27061972	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:27061972G>A	ENST00000268766.6	+	3	470	c.436G>A	c.(436-438)Ggt>Agt	p.G146S	NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	146	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CGTCAAGATCGGTGATTTCGG	0.562000													14	119					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43606878	43606878	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr10:43606878C>G	ENST00000355710.3	+	7	1719	c.1487C>G	c.(1486-1488)gCc>gGc	p.A496G	RET_ENST00000340058.5_Missense_Mutation_p.A496G	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	496					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TCTAGGCAGGCCCAGGCCCAG	0.647000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				6	31					0	0	1	0	0
UNC45A	55898	broad.mit.edu	37	15	91490084	91490084	+	Silent	SNP	G	G	T	rs146865609		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr15:91490084G>T	ENST00000394275.2	+	13	2230	c.1395G>T	c.(1393-1395)tcG>tcT	p.S465S	UNC45A_ENST00000418476.2_Silent_p.S480S	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	480					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ATGGTGTCTCGCTGCTGAAGG	0.632000													39	30					4.00102e-26	6.63523e-26	1	1	0
SLC1A1	6505	broad.mit.edu	37	9	4573997	4573997	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:4573997G>T	ENST00000262352.3	+	8	1094	c.858G>T	c.(856-858)atG>atT	p.M286I		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	286					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	GCCTTTACATGGCCACAGTCC	0.453000													45	92					2.35958e-20	3.76125e-20	1	1	0
CLNK	116449	broad.mit.edu	37	4	10542120	10542120	+	Silent	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr4:10542120G>C	ENST00000226951.6	-	11	839	c.600C>G	c.(598-600)ccC>ccG	p.P200P	CLNK_ENST00000507719.1_Silent_p.P158P|CLNK_ENST00000442825.2_Silent_p.P158P	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	200					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TCTCTCACCTGGGCATTCTCT	0.522000													6	34					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20335184	20335184	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr16:20335184C>A	ENST00000302555.5	-	3	638	c.489G>T	c.(487-489)gtG>gtT	p.V163V	GP2_ENST00000341642.5_Intron|GP2_ENST00000381362.4_Silent_p.V163V|GP2_ENST00000381360.5_Intron			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	163						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCAACCGGTACACATGGTACC	0.572000													7	28					0.00198382	0.00209359	1	1	0
CPA2	1358	broad.mit.edu	37	7	129906730	129906730	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:129906730G>A	ENST00000222481.4	+	1	64	c.9G>A	c.(7-9)atG>atA	p.M3I		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	3					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CCATGGCCATGAGGTTGATCC	0.443000													29	117					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179527326	179527326	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr3:179527326A>G	ENST00000467460.1	-	12	1615	c.1285T>C	c.(1285-1287)Tac>Cac	p.Y429H	PEX5L_ENST00000485199.1_Missense_Mutation_p.Y394H|PEX5L_ENST00000476138.1_Missense_Mutation_p.Y386H|PEX5L_ENST00000472994.1_Missense_Mutation_p.Y370H|PEX5L_ENST00000468741.1_Missense_Mutation_p.Y237H|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.Y405H|PEX5L_ENST00000464614.1_Missense_Mutation_p.Y321H|PEX5L_ENST00000392649.3_Missense_Mutation_p.Y321H|PEX5L_ENST00000263962.8_Missense_Mutation_p.Y427H	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	429					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TTCACAAGGTATTTGTACTTT	0.463000													5	79					0	0	1	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250759	142250759	+	RNA	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:142250759C>T	ENST00000390360.3	-	0	308																											CAGACGCCAACGTGAGGGGGA	0.502000													9	115					0	0	1	0	0
TCF7	6932	broad.mit.edu	37	5	133477984	133477984	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:133477984C>G	ENST00000395029.1	+	6	939	c.744C>G	c.(742-744)ttC>ttG	p.F248L	TCF7_ENST00000518915.1_Missense_Mutation_p.F133L|TCF7_ENST00000395023.1_Missense_Mutation_p.F133L|TCF7_ENST00000321584.4_Missense_Mutation_p.F248L|TCF7_ENST00000520958.1_Missense_Mutation_p.F133L|TCF7_ENST00000378564.1_Missense_Mutation_p.F248L|TCF7_ENST00000432532.2_Missense_Mutation_p.F133L|TCF7_ENST00000378560.4_Missense_Mutation_p.F133L|TCF7_ENST00000342854.5_Missense_Mutation_p.F248L|TCF7_ENST00000321603.6_Missense_Mutation_p.F248L			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	248					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCAGCCCTTCGACCGCAACC	0.612000													4	41					0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99093342	99093342	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:99093342A>G	ENST00000357310.1	+	17	3038	c.2461A>G	c.(2461-2463)Atc>Gtc	p.I821V	APAF1_ENST00000339433.3_Missense_Mutation_p.I821V|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000550527.1_Missense_Mutation_p.I810V|APAF1_ENST00000547045.1_Missense_Mutation_p.I821V|APAF1_ENST00000359972.2_Missense_Mutation_p.I810V|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000549007.1_Missense_Mutation_p.I821V|APAF1_ENST00000551964.1_Missense_Mutation_p.I821V	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	821					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	AAAAAATAAAATCTTTGTAAG	0.328000													11	42					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179701812	179701812	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:179701812G>T	ENST00000420890.2	-	23	4251	c.4134C>A	c.(4132-4134)acC>acA	p.T1378T	CCDC141_ENST00000295723.5_Silent_p.T803T|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	803							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGCCCCTGCTGGTGCCTGATT	0.488000													9	41					0.000274275	0.000298904	1	1	0
DLK1	8788	broad.mit.edu	37	14	101200875	101200875	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr14:101200875C>T	ENST00000341267.4	+	5	1036	c.794C>T	c.(793-795)gCc>gTc	p.A265V	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	265					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TATGGGCTGGCCTACCGCCTG	0.637000													24	58					0	0	1	0	0
MCAM	4162	broad.mit.edu	37	11	119182639	119182639	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:119182639C>A	ENST00000392814.1	-	5	1740	c.1011G>T	c.(1009-1011)agG>agT	p.R337S	MCAM_ENST00000264036.4_Missense_Mutation_p.R388S			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	388	Ig-like C2-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GCACAGGCCCCCTTTCCAGCA	0.632000													22	101					2.39556e-15	3.53379e-15	1	1	0
MYH13	8735	broad.mit.edu	37	17	10212673	10212673	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:10212673C>T	ENST00000418404.3	-	34	5210	c.5047G>A	c.(5047-5049)Ggc>Agc	p.G1683S	MYH13_ENST00000570743.1_Missense_Mutation_p.G1683S|MYH13_ENST00000252172.4_Missense_Mutation_p.G1683S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1683					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGCAGGAGGCCATTCCTGCGC	0.647000													15	4					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142575012	142575012	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:142575012C>T	ENST00000359396.3	-	4	615	c.370G>A	c.(370-372)Gct>Act	p.A124T	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	124					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TTCACAACAGCGATGTGCAGT	0.627000													34	45					0	0	1	0	0
HOXB7	3217	broad.mit.edu	37	17	46685327	46685327	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:46685327C>A	ENST00000239165.7	-	2	629	c.531G>T	c.(529-531)acG>acT	p.T177T	HOXB7_ENST00000567101.1_5'UTR	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	177						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						TCTGTCTTTCCGTGAGGCAGA	0.587000													31	192					6.38683e-12	8.79012e-12	1	1	0
SLC12A7	10723	broad.mit.edu	37	5	1089150	1089150	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:1089150C>A	ENST00000264930.5	-	4	479	c.436G>T	c.(436-438)Ggg>Tgg	p.G146W		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	146					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCAGCCACCCCCACGATCCAC	0.657000													19	68					1.87028e-06	2.2194e-06	1	1	0
GBP5	115362	broad.mit.edu	37	1	89726426	89726426	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:89726426C>A	ENST00000343435.5	-	12	2258	c.1722G>T	c.(1720-1722)caG>caT	p.Q574H	GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.Q574H	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	574						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TAACAGTCCTCTGGGCGTGCT	0.403000													22	130					3.08376e-08	3.89298e-08	1	1	0
GPR32	2854	broad.mit.edu	37	19	51274268	51274268	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:51274268G>T	ENST00000270590.4	+	1	548	c.411G>T	c.(409-411)gtG>gtT	p.V137V		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	137						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TCATCTCTGTGGACCGTTGCA	0.612000													14	111					0.000219431	0.000242601	1	1	0
CSMD3	114788	broad.mit.edu	37	8	114326875	114326875	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr8:114326875G>C	ENST00000297405.5	-	2	570	c.326C>G	c.(325-327)tCa>tGa	p.S109*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S109*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S69*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S109*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	109	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAGAGCAAATGACTGAAAAAC	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	83					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495758	6495758	+	Missense_Mutation	SNP	C	C	T	rs145794132		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:6495758C>T	ENST00000264071.2	-	4	1123	c.752G>A	c.(751-753)cGc>cAc	p.R251H	TUBB4A_ENST00000540257.1_Missense_Mutation_p.R251H			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	251					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										GGCCAGCTTGCGCAGGTCGGC	0.682000													8	77					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52881579	52881579	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:52881579G>T	ENST00000330722.6	-	9	1688	c.1620C>A	c.(1618-1620)agC>agA	p.S540R		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	540	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCCAACAGAGCTGAGGCCAC	0.587000													26	46					2.48779e-11	3.38036e-11	1	1	0
DISP2	85455	broad.mit.edu	37	15	40659393	40659393	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr15:40659393C>T	ENST00000267889.3	+	8	1167	c.1080C>T	c.(1078-1080)gaC>gaT	p.D360D		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	360					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCCAAGCTGACGCAGCCCGCA	0.642000													13	82					0	0	1	0	0
SUPT7L	9913	broad.mit.edu	37	2	27880518	27880518	+	Silent	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:27880518C>G	ENST00000337768.5	-	4	1007	c.438G>C	c.(436-438)gtG>gtC	p.V146V	SUPT7L_ENST00000405491.1_Silent_p.V144V|SUPT7L_ENST00000404798.2_Silent_p.V11V|SUPT7L_ENST00000406540.1_Silent_p.V144V|SUPT7L_ENST00000464789.2_Silent_p.V144V	NM_014860.1	NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	146					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					TGAGTTCAGTCACAGGTTCCC	0.542000													9	39					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529061	57529061	+	Silent	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:57529061T>C	ENST00000420713.1	+	4	1006	c.894T>C	c.(892-894)tgT>tgC	p.C298C		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CCTACACATGTGAAGAATGTG	0.423000													11	38					0	0	1	0	0
KLHL32	114792	broad.mit.edu	37	6	97533105	97533105	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr6:97533105C>A	ENST00000369261.4	+	6	878	c.515C>A	c.(514-516)tCt>tAt	p.S172Y	KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000536676.1_Missense_Mutation_p.S136Y|KLHL32_ENST00000539200.1_Missense_Mutation_p.S103Y	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	172										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		AAACATCTCTCTGAACTCCTG	0.468000													11	68					2.80697e-09	3.70105e-09	1	1	0
FAM221A	340277	broad.mit.edu	37	7	23731012	23731012	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:23731012C>G	ENST00000344962.4	+	4	523	c.434C>G	c.(433-435)tCc>tGc	p.S145C	FAM221A_ENST00000409994.3_Missense_Mutation_p.S87C|FAM221A_ENST00000409192.3_Missense_Mutation_p.S145C|FAM221A_ENST00000409653.1_Missense_Mutation_p.S87C	NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN	family with sequence similarity 221, member A	145																	GATTCAGGTTCCAAGTGTTCA	0.438000													36	100					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100026089	100026089	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr8:100026089G>A	ENST00000395996.1	+	2	184	c.73G>A	c.(73-75)Gat>Aat	p.D25N	VPS13B_ENST00000358544.2_Missense_Mutation_p.D25N|VPS13B_ENST00000357162.2_Missense_Mutation_p.D25N|VPS13B_ENST00000441350.2_Missense_Mutation_p.D25N|VPS13B_ENST00000355155.1_Missense_Mutation_p.D25N			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	25					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAAGCCGTCGGATCTACAGCT	0.428000													50	211					0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41796779	41796779	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr15:41796779C>T	ENST00000263800.6	-	18	2276	c.2180G>A	c.(2179-2181)cGc>cAc	p.R727H	LTK_ENST00000355166.5_Missense_Mutation_p.R666H|LTK_ENST00000453182.2_Missense_Mutation_p.R597H|LTK_ENST00000561619.1_Missense_Mutation_p.R425H	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	727	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CTGGTTGGTGCGCCCAGGATA	0.627000										TSP Lung(18;0.14)			18	73					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25488790	25488790	+	RNA	SNP	T	T	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr15:25488790T>G	ENST00000453082.2	+	0	2332				SNORD115-40_ENST00000606510.1_RNA	NR_003343.1																						TATATTTTCCTGAAGAGAGGT	0.512000													51	277					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767742	31767742	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:31767742C>G	ENST00000240587.4	-	2	3284	c.2957G>C	c.(2956-2958)aGg>aCg	p.R986T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	986					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGAAGGAGTCCTGATTTGGGA	0.483000													11	56					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4941886	4941886	+	Nonsense_Mutation	SNP	C	C	A	rs139811413		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr16:4941886C>A	ENST00000345988.2	-	16	1983	c.1894G>T	c.(1894-1896)Gag>Tag	p.E632*	PPL_ENST00000590782.2_Nonsense_Mutation_p.E630*	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	632					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGATGGTTCTCGTGTGTGGCC	0.622000													5	85					0.0215528	0.0221757	1	1	0
ZNF560	147741	broad.mit.edu	37	19	9578992	9578992	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:9578992C>T	ENST00000301480.4	-	10	844	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TAGAGTTCCTCTCCATTTTGG	0.363000													17	41					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141802436	141802436	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:141802436A>T	ENST00000475668.2	+	69	8024	c.7970A>T	c.(7969-7971)tAt>tTt	p.Y2657F	MGAM_ENST00000549489.2_Missense_Mutation_p.Y1761F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1761					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCAGATACCTATGGGAAAGGA	0.423000													4	21					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153078536	153078536	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:153078536A>G	ENST00000285900.5	+	10	1698	c.1355A>G	c.(1354-1356)tAc>tGc	p.Y452C	GRIA1_ENST00000340592.5_Missense_Mutation_p.Y452C|GRIA1_ENST00000521843.2_Missense_Mutation_p.Y383C|GRIA1_ENST00000518142.1_Missense_Mutation_p.Y372C|GRIA1_ENST00000448073.4_Missense_Mutation_p.Y462C|GRIA1_ENST00000518783.1_Missense_Mutation_p.Y462C	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	452					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CACGTGGGCTACTCCTACCGT	0.537000													17	27					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725316	87725316	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr6:87725316G>T	ENST00000305344.4	+	2	967	c.264G>T	c.(262-264)tgG>tgT	p.W88C	HTR1E_ENST00000369584.1_Missense_Mutation_p.W88C	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	88					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TGGATCGCTGGAAGCTTGGGT	0.562000													17	78					1.99824e-07	2.42513e-07	1	1	0
OR7A17	26333	broad.mit.edu	37	19	14991763	14991763	+	Silent	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:14991763G>A	ENST00000327462.2	-	1	501	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					GAGGGTTCATGATGACTGTGT	0.488000													49	45					0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89167225	89167225	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr16:89167225G>T	ENST00000317447.4	+	3	513	c.136G>T	c.(136-138)Gtg>Ttg	p.V46L	ACSF3_ENST00000406948.3_Missense_Mutation_p.V46L|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	46					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GAGCGCCCCGGTGTTCACCCG	0.677000													24	15					2.44723e-14	3.56082e-14	1	1	0
PARN	5073	broad.mit.edu	37	16	14540779	14540779	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr16:14540779T>A	ENST00000437198.2	-	23	1971	c.1830A>T	c.(1828-1830)aaA>aaT	p.K610N	PARN_ENST00000420015.2_Missense_Mutation_p.K564N|PARN_ENST00000539279.1_Missense_Mutation_p.K435N|PARN_ENST00000341484.7_Missense_Mutation_p.K549N	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	610					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TTCTTTTTAATTTCTTGGCCT	0.488000													18	62					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305743	54305743	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr15:54305743G>T	ENST00000545554.1	+	1	643	c.643G>T	c.(643-645)Gac>Tac	p.D215Y	UNC13C_ENST00000260323.11_Missense_Mutation_p.D215Y|UNC13C_ENST00000537900.1_Missense_Mutation_p.D215Y			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	215					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TAAGTCTTTGGACAGAACTGT	0.423000													32	50					2.46105e-21	3.94655e-21	1	1	0
PRIM2	5558	broad.mit.edu	37	6	57398165	57398165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr6:57398165C>T	ENST00000607273.1	+	10	955	c.868C>T	c.(868-870)Cag>Tag	p.Q290*	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	290					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTACATGCATCAGTTACATAA	0.388000													21	107					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32140239	32140239	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:32140239A>C	ENST00000312561.4	+	5	5483	c.5069A>C	c.(5068-5070)aAa>aCa	p.K1690T	KIAA1551_ENST00000535596.1_3'UTR	NM_018169.3	NP_060639.3			KIAA1551																		AGGACACAGAAAGACAGCCAA	0.299000													7	46					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142649608	142649608	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:142649608C>A	ENST00000355265.2	-	10	1665	c.1191G>T	c.(1189-1191)gaG>gaT	p.E397D	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	397					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGGGTGGTTGCTCTGTCAGTT	0.532000													12	66					0.000219431	0.000242601	1	1	0
SPATA5	166378	broad.mit.edu	37	4	123900432	123900432	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr4:123900432C>A	ENST00000274008.3	+	10	1829	c.1760C>A	c.(1759-1761)cCt>cAt	p.P587H	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	587					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CCTAACCTCCCTGATGTCAAG	0.423000													16	38					2.31682e-05	2.64355e-05	1	1	0
KRBA1	84626	broad.mit.edu	37	7	149427528	149427528	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:149427528C>T	ENST00000255992.10	+	16	2412	c.2013C>T	c.(2011-2013)cgC>cgT	p.R671R	KRBA1_ENST00000319551.8_Silent_p.R611R|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Silent_p.R611R	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	672	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGAGGGACCGCCTTCCCAGCT	0.632000													4	11					0	0	1	0	0
STT3A	3703	broad.mit.edu	37	11	125478177	125478177	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:125478177G>T	ENST00000392708.4	+	9	1113	c.954G>T	c.(952-954)atG>atT	p.M318I	STT3A_ENST00000531491.1_Missense_Mutation_p.M226I|STT3A_ENST00000529196.1_Missense_Mutation_p.M318I	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	318					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		CTCTCCTCATGCTGACAGGTA	0.488000													35	76					1.90571e-15	2.81897e-15	1	1	0
TMEM245	23731	broad.mit.edu	37	9	111798569	111798569	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:111798569T>A	ENST00000374586.3	-	16	2347	c.2316A>T	c.(2314-2316)ttA>ttT	p.L772F		NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN	transmembrane protein 245	772						integral to membrane											CCTTGCATCCTAACCCTTGTG	0.448000													8	49					0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3040232	3040232	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:3040232C>T	ENST00000448120.2	+	6	573	c.522C>T	c.(520-522)gcC>gcT	p.A174A	TULP3_ENST00000397132.2_Silent_p.A174A	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	174				TSGSATAAQPADNL -> IPVLLLPPNQLITF (in Ref. 1).	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)			CTGCTACTGCCGCCCAACCAG	0.488000													38	105					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142612512	142612512	+	Silent	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:142612512T>C	ENST00000265310.1	-	10	1599	c.1251A>G	c.(1249-1251)ggA>ggG	p.G417G		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	417					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GAATCGTCTTTCCAAAATAGC	0.507000													29	91					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158115649	158115649	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:158115649G>T	ENST00000259056.4	+	1	1540	c.1055G>T	c.(1054-1056)gGt>gTt	p.G352V		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	352					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AAAGTATTGGGTAAAAGCCAA	0.393000													26	95					3.6726e-16	5.49347e-16	1	1	0
CACNA2D1	781	broad.mit.edu	37	7	81598227	81598227	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:81598227G>T	ENST00000356860.3	-	29	2709	c.2371C>A	c.(2371-2373)Caa>Aaa	p.Q791K	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.Q803K|CACNA2D1_ENST00000535308.1_Intron	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	803						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AGTTTCCCTTGAATATATATT	0.289000													12	109					3.07112e-06	3.61228e-06	1	1	0
SEPT10	151011	broad.mit.edu	37	2	110325451	110325451	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:110325451G>A	ENST00000356688.4	-	6	1018	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	SEPT10_ENST00000437928.1_Nonsense_Mutation_p.Q220*|SEPT10_ENST00000545389.1_Nonsense_Mutation_p.Q68*|SEPT10_ENST00000415095.1_Nonsense_Mutation_p.Q235*|SEPT10_ENST00000397712.2_Nonsense_Mutation_p.Q235*|SEPT10_ENST00000397714.2_Nonsense_Mutation_p.Q212*|SEPT10_ENST00000334001.6_Nonsense_Mutation_p.Q102*			Q9P0V9	SEP10_HUMAN	septin 10	235					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGGTATATCTGGACGCCATTG	0.393000													17	93					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136282	55136282	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:55136282C>A	ENST00000314706.3	+	1	923	c.923C>A	c.(922-924)cCc>cAc	p.P308H		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTTATAACTCCCATGCTGAAC	0.383000													49	159					4.21674e-32	7.17114e-32	1	1	0
C2CD3	26005	broad.mit.edu	37	11	73844552	73844552	+	Missense_Mutation	SNP	T	T	C	rs138239571		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:73844552T>C	ENST00000334126.7	-	6	1232	c.1006A>G	c.(1006-1008)Atg>Gtg	p.M336V	C2CD3_ENST00000313663.7_Missense_Mutation_p.M336V|C2CD3_ENST00000539061.1_Missense_Mutation_p.M336V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	336						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTTGATTTCATTGCAGAAATC	0.403000													6	52					0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42992768	42992768	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:42992768G>T	ENST00000253408.5	-	1	152	c.87C>A	c.(85-87)cgC>cgA	p.R29R	GFAP_ENST00000586793.1_Silent_p.R29R|GFAP_ENST00000435360.2_Silent_p.R29R|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	29	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GACCCAGACGGCGGCCAGGAG	0.672000													4	31					1.024e-07	1.26578e-07	1	1	0
CMAS	55907	broad.mit.edu	37	12	22208542	22208542	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:22208542G>T	ENST00000229329.2	+	3	687	c.557G>T	c.(556-558)gGa>gTa	p.G186V		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	186					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						ATTCAGAAAGGAGGTAATCTC	0.343000													31	44					2.46105e-21	3.94655e-21	1	1	0
CTAGE5	4253	broad.mit.edu	37	14	39815112	39815112	+	Silent	SNP	A	A	G	rs146750332		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr14:39815112A>G	ENST00000553728.1	+	25	3654	c.3441A>G	c.(3439-3441)caA>caG	p.Q1147Q	CTAGE5_ENST00000348007.3_Silent_p.Q569Q|RP11-407N17.3_ENST00000603904.1_Silent_p.Q583Q|CTAGE5_ENST00000280083.3_Silent_p.Q612Q|CTAGE5_ENST00000341749.3_Silent_p.Q600Q|CTAGE5_ENST00000553352.1_Silent_p.Q583Q|CTAGE5_ENST00000396165.4_Silent_p.Q583Q|CTAGE5_ENST00000557038.1_Silent_p.Q532Q|CTAGE5_ENST00000396158.2_Silent_p.Q617Q|CTAGE5_ENST00000341502.5_Silent_p.Q612Q|CTAGE5_ENST00000556148.1_Silent_p.Q537Q																							TTCTAGGACAATCATATCCTG	0.328000													8	39					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57379371	57379371	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:57379371C>T	ENST00000403558.1	+	6	1706	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M	SERPING1_ENST00000278407.4_Missense_Mutation_p.T404M|SERPING1_ENST00000378323.4_Missense_Mutation_p.T409M|SERPING1_ENST00000378324.2_Missense_Mutation_p.T352M|SERPING1_ENST00000340687.6_Missense_Mutation_p.T367M	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	404					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						ATCAAAGTGACGACCAGCCAG	0.527000													24	75					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56222188	56222188	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:56222188T>A	ENST00000357606.3	-	3	544	c.255A>T	c.(253-255)agA>agT	p.R85S	DNAJC14_ENST00000317269.3_Missense_Mutation_p.R85S|DNAJC14_ENST00000317287.5_Missense_Mutation_p.R85S			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	85					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CCTCTGCATCTCTAGGTGGTC	0.557000													32	213					0	0	1	0	0
IGHA1	3493	broad.mit.edu	37	14	106174744	106174744	+	RNA	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr14:106174744C>T	ENST00000390547.2	-	0	258																											TAGTGCTTCACGTGGCATGTC	0.677000													4	47					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433095	40433095	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:40433095A>T	ENST00000221347.6	-	2	1181	c.1174T>A	c.(1174-1176)Tcg>Acg	p.S392T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	392	IgGFc-binding.					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)			TCAGCATACGAGAACTCACTG	0.612000													8	28					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159652923	159652923	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr6:159652923C>G	ENST00000297267.9	+	11	1579	c.1379C>G	c.(1378-1380)gCg>gGg	p.A460G	FNDC1_ENST00000340366.6_Missense_Mutation_p.A397G	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	460						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCAGTAAGGCGGATGTTGAG	0.488000													4	19					0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30091719	30091719	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr13:30091719T>A	ENST00000380752.5	-	10	1887	c.1501A>T	c.(1501-1503)Agc>Tgc	p.S501C	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	501					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	p.S501G(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCTATGAGGCTGGTTGAAATG	0.488000													31	99					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763201	77763201	+	Silent	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr8:77763201G>A	ENST00000521891.2	+	10	4492	c.4044G>A	c.(4042-4044)caG>caA	p.Q1348Q	ZFHX4_ENST00000455469.2_Silent_p.Q1303Q|ZFHX4_ENST00000518282.1_Silent_p.Q1322Q|ZFHX4_ENST00000050961.6_Silent_p.Q1303Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1303						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGAGGAGCAGAAACCGACTA	0.408000										HNSCC(33;0.089)			6	19					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177250481	177250481	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:177250481C>T	ENST00000361539.4	+	8	2481	c.2169C>T	c.(2167-2169)ctC>ctT	p.L723L	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		723						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TCATTGAGCTCAGGGACCGGG	0.537000													24	179					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237819198	237819198	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:237819198G>T	ENST00000366574.2	+	53	8360	c.8043G>T	c.(8041-8043)atG>atT	p.M2681I	RYR2_ENST00000360064.6_Missense_Mutation_p.M2679I|RYR2_ENST00000542537.1_Missense_Mutation_p.M2665I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2681	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGACTACATGGAGTCAAATT	0.423000													12	9					1.08611e-07	1.32719e-07	1	1	0
ITGB3	3690	broad.mit.edu	37	17	45361945	45361945	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:45361945C>T	ENST00000560629.1	+	4	463	c.463C>T	c.(463-465)Cca>Tca	p.P155S	ITGB3_ENST00000559488.1_Silent_p.T166T|ITGB3_ENST00000571680.1_Silent_p.T166T|ITGB3_ENST00000435993.2_Silent_p.T119T			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	AGCTGGCCACCCAGATGCGAA	0.532000													43	124					0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20585973	20585973	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr14:20585973C>G	ENST00000315543.4	+	1	408	c.408C>G	c.(406-408)caC>caG	p.H136Q		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTCTCCTTCACTTACTGGGTG	0.433000													33	137					0	0	1	0	0
RGS11	8786	broad.mit.edu	37	16	321439	321439	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr16:321439C>A	ENST00000397770.3	-	11	725	c.708G>T	c.(706-708)gcG>gcT	p.A236A	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Silent_p.A215A|RGS11_ENST00000359740.5_Silent_p.A225A			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	236	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCCTGCCCAGCGCTTTCCTGA	0.647000													17	41					9.16793e-09	1.18253e-08	1	1	0
BRD8	10902	broad.mit.edu	37	5	137501759	137501759	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:137501759C>A	ENST00000254900.5	-	11	1407	c.1036G>T	c.(1036-1038)Ggg>Tgg	p.G346W	BRD8_ENST00000402931.1_Missense_Mutation_p.G346W|BRD8_ENST00000411594.2_Missense_Mutation_p.G349W|BRD8_ENST00000230901.5_Missense_Mutation_p.G419W|BRD8_ENST00000455658.2_Missense_Mutation_p.G305W	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	346					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGTGGATCCCCCACAGCCTCC	0.463000													36	66					5.71845e-15	8.36617e-15	1	1	0
C20orf85	128602	broad.mit.edu	37	20	56735869	56735869	+	Silent	SNP	C	C	A	rs140824842		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr20:56735869C>A	ENST00000371168.3	+	4	466	c.405C>A	c.(403-405)ggC>ggA	p.G135G		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	135										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			CCAAGCAGGGCGTGCACTGAA	0.602000													16	23					4.14922e-12	5.72528e-12	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745595	77745595	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:77745595C>A	ENST00000409088.3	-	3	1814	c.1400G>T	c.(1399-1401)cGg>cTg	p.R467L	LRRTM4_ENST00000409093.1_Missense_Mutation_p.R467L|LRRTM4_ENST00000409282.1_Missense_Mutation_p.R468L|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R468L|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R467L	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	467						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGCCTTTTTCCGCCGCCTCTT	0.463000													20	39					4.96729e-08	6.16868e-08	1	1	0
KAT2A	2648	broad.mit.edu	37	17	40269943	40269943	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:40269943C>A	ENST00000225916.5	-	8	1326	c.1273G>T	c.(1273-1275)Ggg>Tgg	p.G425W		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	425					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GGCTCGGCCCCTGCAGAATCC	0.582000													3	26					0.00024832	0.000272845	1	1	0
AMH	268	broad.mit.edu	37	19	2251711	2251711	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:2251711C>T	ENST00000221496.3	+	5	2104	c.1438C>T	c.(1438-1440)Ccc>Tcc	p.P480S		NM_000479.3	NP_000470.2	P03971	MIS_HUMAN	anti-Mullerian hormone	480					cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|positive regulation of gene expression|sex determination	extracellular space	growth factor activity|hormone activity			lung(2)	2		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)		CGTACTCATCCCCGAGACCTA	0.716000									Persistant Mullerian Duct Syndrome (type I and II)				8	22					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428882	179428882	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:179428882T>G	ENST00000589042.1	-	326	82201	c.81977A>C	c.(81976-81978)aAa>aCa	p.K27326T	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K18386T|TTN_ENST00000591111.1_Missense_Mutation_p.K25685T|TTN_ENST00000460472.2_Missense_Mutation_p.K18261T|TTN_ENST00000342992.6_Missense_Mutation_p.K24758T|TTN_ENST00000342175.6_Missense_Mutation_p.K18453T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25685	Fibronectin type-III 99.						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)			AATAGTAGATTTAATTTCCAT	0.378000													25	197					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22188551	22188551	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:22188551C>A	ENST00000374695.3	-	38	4877	c.4798G>T	c.(4798-4800)Gga>Tga	p.G1600*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1600	Laminin EGF-like 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GTGGCATCTCCGTAGTAGCCA	0.622000													34	45					8.4185e-14	1.20522e-13	1	1	0
ARHGEF28	64283	broad.mit.edu	37	5	72980702	72980702	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:72980702C>T	ENST00000545377.1	+	2	202	c.26C>T	c.(25-27)cCt>cTt	p.P9L	ARHGEF28_ENST00000296794.6_Missense_Mutation_p.P9L|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.P9L|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.P9L|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.P9L|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.P9L	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		AGCGAAGCACCTCTTTACGTA	0.478000													4	32					0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68822749	68822749	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:68822749C>G	ENST00000294309.3	+	4	459	c.358C>G	c.(358-360)Ccg>Gcg	p.P120A	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.P120A	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	120					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCCCTGGGAGCCGCCCTGCGG	0.637000													14	88					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322196	55322196	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:55322196C>T	ENST00000314644.2	+	1	414	c.414C>T	c.(412-414)tcC>tcT	p.S138S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTGTAGACTCCCTCTATGTGA	0.488000										HNSCC(20;0.049)			25	172					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52841232	52841232	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:52841232T>C	ENST00000371568.3	-	15	2391	c.2173A>G	c.(2173-2175)Atc>Gtc	p.I725V	ORC1_ENST00000371566.1_Missense_Mutation_p.I725V	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	725	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CGCCTGCAGATGTCCAGGCAC	0.532000													31	55					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155157978	155157978	+	Silent	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:155157978T>A	ENST00000392825.3	+	9	1599	c.1032T>A	c.(1030-1032)gtT>gtA	p.V344V	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Silent_p.V344V	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	344	Catalytic subdomain B.					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						TTGGTCATGTTTTTCGGAAGG	0.408000													10	212					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57349265	57349265	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:57349265C>A	ENST00000361249.3	+	6	862	c.766C>A	c.(766-768)Cca>Aca	p.P256T		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	256	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CGGCATAGGCCCAGCCGGCAG	0.408000													13	70					5.50884e-06	6.38117e-06	1	1	0
HGF	3082	broad.mit.edu	37	7	81399225	81399225	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:81399225C>A	ENST00000222390.5	-	1	289	c.63G>T	c.(61-63)ctG>ctT	p.L21L	HGF_ENST00000444829.2_Silent_p.L21L|HGF_ENST00000457544.2_Silent_p.L21L|HGF_ENST00000453411.1_Silent_p.L21L|HGF_ENST00000423064.2_Silent_p.L21L|HGF_ENST00000354224.6_Silent_p.L21L	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	21					epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CGATGGGGAGCAGGAGGAGAT	0.527000													2	1					0.0016	0.00171222	1	1	0
CYP4F24P	388514	broad.mit.edu	37	19	15880886	15880886	+	RNA	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:15880886A>G	ENST00000595525.1	+	0	529				CYP4F24P_ENST00000587443.2_RNA																							ATCTTCTTCCAGAAACTCAAA	0.498000													3	3					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982770	7982770	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:7982770G>A	ENST00000328600.2	-	2	550	c.389C>T	c.(388-390)cCc>cTc	p.P130L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	130							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCTGAGCTGGGCTTGGCCAC	0.562000													13	44					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51013224	51013224	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr18:51013224T>C	ENST00000442544.2	+	26	4410	c.3794T>C	c.(3793-3795)cTc>cCc	p.L1265P	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.L900P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1265					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCAGGAATCCTCCCGTCTCCC	0.537000													9	90					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096268	167096268	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:167096268C>T	ENST00000361200.2	+	6	2066	c.1900C>T	c.(1900-1902)Cgg>Tgg	p.R634W	DUSP27_ENST00000271385.5_Missense_Mutation_p.R634W|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R634W			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	634					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGAGAGAAGCCGGCAGACGCT	0.637000													4	24					0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100906881	100906881	+	Splice_Site	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:100906881G>C	ENST00000393437.3	-	10	2398	c.1757_splice	c.e10-1	p.L587_splice	LONRF2_ENST00000409647.1_Splice_Site_p.L344_splice	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	587	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TACTCTGAAAGCCTGAAAAGA	0.433000													36	70					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737448	248737448	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:248737448G>T	ENST00000328782.2	-	1	632	c.611C>A	c.(610-612)aCg>aAg	p.T204K		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T204K(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCACAGGTACGTGAGCATCTT	0.517000													91	430					2.37326e-55	4.12808e-55	1	1	0
SATL1	340562	broad.mit.edu	37	X	84362581	84362581	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chrX:84362581C>A	ENST00000509231.1	-	1	1473	c.1394G>T	c.(1393-1395)aGt>aTt	p.S465I	SATL1_ENST00000395409.3_Missense_Mutation_p.S278I|SATL1_ENST00000332921.5_Missense_Mutation_p.S278I			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	278	N-acetyltransferase.|Substrate binding (By similarity).						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TTGGTTCTTACTTGATTGGCT	0.582000													16	54					1.37285e-15	2.0364e-15	1	1	0
PAPSS2	9060	broad.mit.edu	37	10	89503231	89503231	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr10:89503231C>T	ENST00000361175.4	+	10	1678	c.1309C>T	c.(1309-1311)Ccg>Tcg	p.P437S	PAPSS2_ENST00000456849.1_Missense_Mutation_p.P442S|PAPSS2_ENST00000427144.2_Missense_Mutation_p.P441S	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	437					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CTACAAGCACCCGGTCCTCCT	0.607000													12	80					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74312911	74312911	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:74312911C>G	ENST00000377044.4	-	20	4126	c.3587G>C	c.(3586-3588)gGc>gCc	p.G1196A	TMEM2_ENST00000396272.3_Missense_Mutation_p.G189A|TMEM2_ENST00000377066.5_Missense_Mutation_p.G1133A	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1196						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CTGCCGAGTGCCACAGCCTTG	0.483000													16	33					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73850139	73850139	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr8:73850139G>A	ENST00000523207.1	+	3	3137	c.2549G>A	c.(2548-2550)aGt>aAt	p.S850N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	850					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAAGAGGGCAGTGTGGGCTCT	0.532000													24	71					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176759022	176759022	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:176759022C>A	ENST00000367662.3	+	18	5957	c.4793C>A	c.(4792-4794)cCc>cAc	p.P1598H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1598	Sushi 4.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTGAGCCACCCCCTCCTGTG	0.478000													29	104					2.48779e-11	3.38036e-11	1	1	0
KRTAP21-1	337977	broad.mit.edu	37	21	32127668	32127668	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr21:32127668C>A	ENST00000335093.3	-	1	78	c.29G>T	c.(28-30)tGt>tTt	p.C10F		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	10						intermediate filament				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						gccatagccacagGAGTTGCC	0.532000													80	106					1.43161e-34	2.44243e-34	1	1	0
MAD2L2	10459	broad.mit.edu	37	1	11737658	11737658	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:11737658G>A	ENST00000235310.3	-	6	1101	c.173C>T	c.(172-174)cCg>cTg	p.P58L	MAD2L2_ENST00000376692.4_Missense_Mutation_p.P58L|MAD2L2_ENST00000376667.3_Missense_Mutation_p.P58L|MAD2L2_ENST00000376669.5_Missense_Mutation_p.P58L|MAD2L2_ENST00000376672.1_Missense_Mutation_p.P58L			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	58	HORMA.|Mediates interaction with REV1 and REV3L and homodimerization.				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTCAGCTCCGGGTGGCAGGA	0.597000								DNA polymerases (catalytic subunits)					9	40					0	0	1	0	0
RPS6KB2	6199	broad.mit.edu	37	11	67200617	67200617	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:67200617G>T	ENST00000312629.5	+	9	773	c.728G>T	c.(727-729)cGc>cTc	p.R243L	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	243	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			ATTCTGGTGCGCAGTGGCCAC	0.687000													3	7					0.115264	0.117017	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	131913175	131913175	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:131913175G>A	ENST00000359827.3	-	6	2620	c.1658C>T	c.(1657-1659)tCg>tTg	p.S553L	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S553L			Q9HCM2	PLXA4_HUMAN	plexin A4	553	PSI 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTTCATCTCCGAGGCAAACCT	0.607000													4	33					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16942660	16942660	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr10:16942660C>G	ENST00000377833.4	-	53	8439	c.8374G>C	c.(8374-8376)Ggt>Cgt	p.G2792R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2792	CUB 20.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAAAATCCACCACCTTGCAAT	0.368000													31	75					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470122	10470122	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr8:10470122C>G	ENST00000382483.3	-	4	1709	c.1486G>C	c.(1486-1488)Gga>Cga	p.G496R		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	496					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGCTCCCTCCAGCTTTCCGC	0.706000													13	34					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50547497	50547497	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:50547497G>T	ENST00000444124.2	-	10	1209	c.1009C>A	c.(1009-1011)Cat>Aat	p.H337N	DDC_ENST00000426377.1_Missense_Mutation_p.H259N|DDC_ENST00000357936.5_Missense_Mutation_p.H337N|DDC_ENST00000431062.1_Missense_Mutation_p.H244N	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	337					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GAATCCTGATGGCTGTGCTTC	0.507000													8	75					7.48243e-07	9.01945e-07	1	1	0
LPHN3	23284	broad.mit.edu	37	4	62598771	62598771	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr4:62598771G>T	ENST00000512091.1	+	7	1441	c.694G>T	c.(694-696)Gat>Tat	p.D232Y	LPHN3_ENST00000507164.1_Missense_Mutation_p.D300Y|LPHN3_ENST00000514157.1_Missense_Mutation_p.D232Y|LPHN3_ENST00000506746.1_Missense_Mutation_p.D300Y|LPHN3_ENST00000506700.1_Missense_Mutation_p.D232Y|LPHN3_ENST00000506720.1_Missense_Mutation_p.D300Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.D232Y|LPHN3_ENST00000511324.1_Missense_Mutation_p.D300Y|LPHN3_ENST00000508946.1_Missense_Mutation_p.D232Y|LPHN3_ENST00000514591.1_Missense_Mutation_p.D232Y|LPHN3_ENST00000545650.1_Missense_Mutation_p.D232Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.D300Y|LPHN3_ENST00000514996.1_Missense_Mutation_p.D232Y|LPHN3_ENST00000507625.1_Missense_Mutation_p.D300Y|LPHN3_ENST00000509896.1_Missense_Mutation_p.D300Y			Q9HAR2	LPHN3_HUMAN	latrophilin 3	232	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AGTAAAGTTTGATTTGCGGAC	0.458000													5	29					0.0215528	0.0221757	1	1	0
TRPM1	4308	broad.mit.edu	37	15	31320551	31320551	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr15:31320551G>T	ENST00000542188.1	-	24	3641	c.3328C>A	c.(3328-3330)Ctg>Atg	p.L1110M	RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.L1071M|TRPM1_ENST00000256552.6_Missense_Mutation_p.L1093M|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1071					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACAGCAATCAGCAGGTTCACC	0.512000													7	45					5.18039e-06	6.04002e-06	1	1	0
FAM53C	51307	broad.mit.edu	37	5	137681066	137681066	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:137681066G>T	ENST00000239906.5	+	4	1117	c.689G>T	c.(688-690)cGc>cTc	p.R230L	FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000434981.2_Missense_Mutation_p.R230L	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	230										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCTCAGCGCCGCTTCTCCCTG	0.672000													60	78					7.10663e-31	1.20093e-30	1	1	0
GLI3	2737	broad.mit.edu	37	7	42005160	42005160	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:42005160C>A	ENST00000395925.3	-	15	3595	c.3511G>T	c.(3511-3513)Gac>Tac	p.D1171Y	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1171					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GAGGACAGGTCGGCGCTTCCG	0.667000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				20	146					2.37509e-13	3.35529e-13	1	1	0
STARD6	147323	broad.mit.edu	37	18	51858176	51858176	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr18:51858176G>C	ENST00000580990.2	-	3	263	c.43C>G	c.(43-45)Ccc>Gcc	p.P15A	STARD6_ENST00000581310.1_Silent_p.S107S|STARD6_ENST00000307844.3_Silent_p.S107S			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	217	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		AGTCTCGAGGGGAAATGGAGC	0.368000													10	51					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111594549	111594549	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:111594549C>T	ENST00000304987.3	+	15	2650	c.2477C>T	c.(2476-2478)cCa>cTa	p.P826L		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	826					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						ccgccaccgccaccaccccct	0.662000													9	56					0	0	1	0	0
SOX15	6665	broad.mit.edu	37	17	7492597	7492597	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:7492597C>A	ENST00000250055.2	-	1	891	c.398G>T	c.(397-399)cGc>cTc	p.R133L	MPDU1_ENST00000423172.2_Intron|SOX15_ENST00000570788.1_Missense_Mutation_p.R133L|SOX15_ENST00000538513.2_Missense_Mutation_p.R133L	NM_006942.1	NP_008873.1	O60248	SOX15_HUMAN	SRY (sex determining region Y)-box 15	133					chromatin organization|male gonad development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|prostate(1)	2						CTGTCCGCAGCGGGAAGGTCC	0.721000											OREG0024139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	4					0.217242	0.217242	1	1	0
UGT1A4	54657	broad.mit.edu	37	2	234627778	234627778	+	Silent	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:234627778A>G	ENST00000373409.3	+	1	355	c.312A>G	c.(310-312)gaA>gaG	p.E104E	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		TTGAAACAGAACATCTTCTGA	0.433000													104	127					0	0	1	0	0
TRBV7-4	28594	broad.mit.edu	37	7	142176420	142176420	+	RNA	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:142176420C>T	ENST00000390369.2	-	0	255																											GGCCTCTCTGCAGAGAACCGA	0.582000													7	67					0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135116431	135116431	+	Splice_Site	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:135116431C>A	ENST00000393229.3	+	7	2133	c.1357_splice	c.e7+1	p.P453_splice	NTNG2_ENST00000490694.1_3'UTR|NTNG2_ENST00000393228.4_Splice_Site_p.P445_splice|NTNG2_ENST00000360670.3_Splice_Site_p.P459_splice	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	453	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGGCTGCTACCGTGAGTGCGC	0.761000													4	18					0.150653	0.152077	1	1	0
PDCD11	22984	broad.mit.edu	37	10	105166456	105166456	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr10:105166456C>T	ENST00000369797.3	+	7	873	c.779C>T	c.(778-780)tCa>tTa	p.S260L		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	260					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTTGGTCACTCAGAGGTTTCT	0.478000													13	64					0	0	1	0	0
RGS8	85397	broad.mit.edu	37	1	182640815	182640815	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:182640815C>A	ENST00000483095.2	-	0	131				RGS8_ENST00000367557.4_De_novo_Start_OutOfFrame|RGS8_ENST00000367556.1_De_novo_Start_OutOfFrame|RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000258302.4_Missense_Mutation_p.Q19H			P57771	RGS8_HUMAN	regulator of G-protein signaling 8						negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						TCCTCATGGCCTGAGGGTCTT	0.463000													29	59					4.40665e-25	7.2628e-25	1	1	0
TLL2	7093	broad.mit.edu	37	10	98180730	98180730	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr10:98180730G>T	ENST00000357947.3	-	7	1131	c.906C>A	c.(904-906)gcC>gcA	p.A302A	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	302	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGGTGTTCCGGGCGTAGTGCA	0.507000													38	152					2.40579e-17	3.67055e-17	1	1	0
PCDHB10	56126	broad.mit.edu	37	5	140572515	140572515	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:140572515G>T	ENST00000239446.4	+	1	574	c.390G>T	c.(388-390)gcG>gcT	p.A130A		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		130	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGATCACGCGCCAGTATTTC	0.423000													50	61					1.86633e-21	3.02007e-21	1	1	0
CD1C	911	broad.mit.edu	37	1	158262005	158262005	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:158262005G>T	ENST00000368170.3	+	3	739	c.460G>T	c.(460-462)Ggc>Tgc	p.G154C		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	154					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GCCATCTCCAGGCTGTGGAAG	0.458000													59	361					1.67886e-27	2.81038e-27	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3235678	3235678	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chrX:3235678G>A	ENST00000217939.6	-	6	6198	c.6044C>T	c.(6043-6045)gCg>gTg	p.A2015V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2015	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGAGAAGGACGCCTCCTTGAT	0.632000													3	13					0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115421717	115421717	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:115421717A>T	ENST00000337530.6	+	4	1815	c.1519A>T	c.(1519-1521)Acc>Tcc	p.T507S	KIAA1958_ENST00000536272.1_Missense_Mutation_p.T535S	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	507										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CAGCTCCTCCACCAAGAAACT	0.582000													4	30					0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240985297	240985297	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:240985297A>T	ENST00000319423.4	-	1	192	c.193T>A	c.(193-195)Tcc>Acc	p.S65T		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AAAGACATGGAGCTCAGAAAG	0.557000													20	66					0	0	1	0	0
UBXN4	23190	broad.mit.edu	37	2	136536537	136536537	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:136536537G>T	ENST00000272638.9	+	11	1384	c.1073G>T	c.(1072-1074)gGt>gTt	p.G358V	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	358	UBX.				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AACACTTACGGTAATTTTTCG	0.348000													15	90					1.52009e-12	2.1194e-12	1	1	0
NIM1K	167359	broad.mit.edu	37	5	43246136	43246136	+	Missense_Mutation	SNP	C	C	A	rs146428999		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:43246136C>A	ENST00000512796.1	+	2	1758	c.259C>A	c.(259-261)Caa>Aaa	p.Q87K	NIM1_ENST00000326035.2_Missense_Mutation_p.Q87K			Q8IY84	NIM1_HUMAN		87	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										AAACTTCTCCCAAGTGAAGCT	0.527000													11	36					1.58986e-06	1.8993e-06	1	1	0
TLR4	7099	broad.mit.edu	37	9	120474958	120474958	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:120474958C>A	ENST00000355622.6	+	3	653	c.552C>A	c.(550-552)agC>agA	p.S184R	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.S144R	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	184					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ACCTTTCCAGCAACAAGATTC	0.383000													27	89					9.39395e-14	1.33414e-13	1	1	0
KIF4B	285643	broad.mit.edu	37	5	154395457	154395457	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:154395457C>T	ENST00000435029.4	+	1	2198	c.2038C>T	c.(2038-2040)Cgt>Tgt	p.R680C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	680	Interaction with PRC1 (By similarity).		R -> H (in dbSNP:rs17116710).		axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGAACGAGACCGTAAGAGGCA	0.433000													46	57					0	0	1	0	0
GIT1	28964	broad.mit.edu	37	17	27901911	27901911	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:27901911G>A	ENST00000225394.3	-	20	2343	c.2095C>T	c.(2095-2097)Cgg>Tgg	p.R699W	GIT1_ENST00000581348.1_Missense_Mutation_p.R685W|GIT1_ENST00000579937.1_3'UTR|GIT1_ENST00000394869.3_Missense_Mutation_p.R708W|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	699	Interaction with PXN and TGFB1I1 (By similarity).				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		AGTGAGCTCCGCACTGGCTCC	0.657000													3	15					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32624242	32624242	+	Silent	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr21:32624242G>A	ENST00000286827.3	-	6	1698	c.1227C>T	c.(1225-1227)agC>agT	p.S409S	TIAM1_ENST00000541036.1_Silent_p.S409S|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	409					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCTGCTCATCGCTGTGCGCCG	0.701000													6	55					0	0	1	0	0
MRPS17	51373	broad.mit.edu	37	7	56022736	56022736	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:56022736C>T	ENST00000285298.4	+	3	387	c.258C>T	c.(256-258)ttC>ttT	p.F86F	MRPS17_ENST00000426595.1_Silent_p.F181F	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17	86					translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGATCGTTTTCAAAGTTGGAA	0.478000													27	179					0	0	1	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45568182	45568182	+	RNA	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:45568182C>T	ENST00000256692.5	-	0	503					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTTCAGCAAACTCTTTATCCT	0.473000													19	83					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18847769	18847769	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr16:18847769T>C	ENST00000446231.2	-	47	8102	c.7690A>G	c.(7690-7692)Ata>Gta	p.I2564V	SMG1_ENST00000389467.3_Missense_Mutation_p.I2564V			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2564					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TAATGTGTTATCCATTGTTCA	0.428000													21	63					0	0	1	0	0
SNTA1	6640	broad.mit.edu	37	20	32026748	32026748	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr20:32026748C>G	ENST00000217381.2	-	2	666	c.395G>C	c.(394-396)gGg>gCg	p.G132A		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	132	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						GATGGCATCCCCCACAAAAAG	0.547000													12	181					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640527	7640527	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:7640527G>C	ENST00000359156.4	-	7	1779	c.1577C>G	c.(1576-1578)tCt>tGt	p.S526C	CD163_ENST00000396620.3_Missense_Mutation_p.S526C|CD163_ENST00000541972.1_Missense_Mutation_p.S514C|CD163_ENST00000432237.2_Missense_Mutation_p.S526C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	526	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCCCAGGATAGAGACAACTGT	0.527000													8	70					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179547582	179547582	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:179547582T>G	ENST00000589042.1	-	135	33160	c.32936A>C	c.(32935-32937)gAa>gCa	p.E10979A	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E10662A|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9735A|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10662	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAAACAGCTTCTTCTTCTAG	0.328000													15	37					0	0	1	0	0
TMEM38B	55151	broad.mit.edu	37	9	108510377	108510377	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:108510377G>T	ENST00000374688.1	+	5	1114	c.404G>T	c.(403-405)gGg>gTg	p.G135V	TMEM38B_ENST00000374692.3_Missense_Mutation_p.G189V			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	189						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						ACCCTGCTGGGGTCAGTTATC	0.383000													26	53					4.72057e-08	5.87596e-08	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50699530	50699530	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:50699530T>A	ENST00000404971.1	-	17	4609	c.3270A>T	c.(3268-3270)caA>caT	p.Q1090H	NRXN1_ENST00000405472.3_Missense_Mutation_p.Q1042H|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.Q1042H|NRXN1_ENST00000401710.1_Missense_Mutation_p.Q59H|NRXN1_ENST00000406859.3_Missense_Mutation_p.Q1050H|NRXN1_ENST00000401669.2_Missense_Mutation_p.Q1050H|NRXN1_ENST00000406316.2_Missense_Mutation_p.Q1050H	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1050	EGF-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCAGGCAGCCTTGAAAGCCTT	0.428000													8	50					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145111991	145111991	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr8:145111991C>A	ENST00000426825.1	-	12	1647	c.1566G>T	c.(1564-1566)ctG>ctT	p.L522L	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	522							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CAGCCAGGGCCAGCCCCAGGG	0.677000													3	10					6.4e-05	7.21172e-05	1	1	0
FBXO18	84893	broad.mit.edu	37	10	5957452	5957452	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr10:5957452G>T	ENST00000379999.5	+	10	1740	c.1636G>T	c.(1636-1638)Gca>Tca	p.A546S	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.A495S|FBXO18_ENST00000379994.1_Missense_Mutation_p.A232S	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	495					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CAAGAGCATCGCAAAGCAGGC	0.547000													10	49					0.000442599	0.000479408	1	1	0
MYL7	58498	broad.mit.edu	37	7	44179170	44179170	+	Splice_Site	SNP	T	T	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:44179170T>A	ENST00000458240.1	-	5	585		c.e5-2		MYL7_ENST00000223364.3_Splice_Site|MYL7_ENST00000434895.1_5'UTR			Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory						actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						TGCTTGAACCTGGGGGGTGAG	0.632000													15	84					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42266914	42266914	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr22:42266914A>T	ENST00000361204.4	+	4	908	c.742A>T	c.(742-744)Atc>Ttc	p.I248F		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	248	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCCTCAGATCATCAAGACAGA	0.493000													9	117					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114386710	114386710	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:114386710C>A	ENST00000545145.2	-	10	1282	c.1204G>T	c.(1204-1206)Gga>Tga	p.G402*	RBM19_ENST00000392561.3_Nonsense_Mutation_p.G402*|RBM19_ENST00000261741.5_Nonsense_Mutation_p.G402*	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	402	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					AAGAGCCTTCCGGATTCGGCC	0.587000													14	86					2.62699e-14	3.80166e-14	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79318455	79318455	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:79318455A>T	ENST00000428286.1	-	9	8197	c.6997T>A	c.(6997-6999)Tct>Act	p.S2333T	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S2692T			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2692					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACTGGACCAGAGGCTTCCTCT	0.542000													13	81					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459841	142459841	+	Nonsense_Mutation	SNP	C	C	A	rs141847266	by1000genomes	TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:142459841C>A	ENST00000486171.1	+	4	476	c.459C>A	c.(457-459)tgC>tgA	p.C153*	PRSS1_ENST00000311737.7_Nonsense_Mutation_p.C139*			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	139	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GCACGAAGTGCCTCATCTCTG	0.562000													27	85					7.41945e-09	9.61647e-09	1	1	0
PDCL	5082	broad.mit.edu	37	9	125582562	125582562	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:125582562C>T	ENST00000259467.4	-	4	873	c.708G>A	c.(706-708)ctG>ctA	p.L236L		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	236					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TATAGATCAGCAGGGCAGGAA	0.517000													24	67					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52366085	52366085	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr8:52366085C>A	ENST00000356297.4	-	10	1343	c.1243G>T	c.(1243-1245)Gta>Tta	p.V415L	PXDNL_ENST00000543296.1_Missense_Mutation_p.V415L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	415					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATACCTTGTACAATTATGTTT	0.408000													9	39					1.76689e-08	2.26264e-08	1	1	0
COL4A5	1287	broad.mit.edu	37	X	107939545	107939545	+	Silent	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chrX:107939545G>T	ENST00000328300.6	+	53	5257	c.5013G>T	c.(5011-5013)acG>acT	p.T1671T	COL4A5_ENST00000361603.2_Silent_p.T1665T	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1665	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGTCAGAAACGCTGAAAGCAG	0.348000									Alport syndrome with Diffuse Leiomyomatosis				16	20					5.35267e-07	6.4668e-07	1	1	0
TPRX1	284355	broad.mit.edu	37	19	48305244	48305244	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:48305244C>A	ENST00000535759.1	-	4	1314	c.1315G>T	c.(1315-1317)Gac>Tac	p.D439Y	TPRX1_ENST00000543508.1_Missense_Mutation_p.D332Y|TPRX1_ENST00000322175.3_Missense_Mutation_p.D342Y			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	342						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GGCAAGAAGTCGGAGGCATCG	0.612000													12	55					9.31168e-06	1.07396e-05	1	1	0
GJA4	2701	broad.mit.edu	37	1	35260515	35260515	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:35260515G>A	ENST00000342280.4	+	2	789	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	234					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTGCTGTGTCGCTGCCTCAGC	0.602000													8	48					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139737644	139737644	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr8:139737644G>T	ENST00000303045.6	-	24	2625	c.2179C>A	c.(2179-2181)Ccg>Acg	p.P727T	COL22A1_ENST00000435777.1_Missense_Mutation_p.P727T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	727	Collagen-like 5.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAACCTCCCGGTCCAGGGGGG	0.582000										HNSCC(7;0.00092)			26	44					1.5548e-18	2.41356e-18	1	1	0
ADCY2	108	broad.mit.edu	37	5	7820692	7820692	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:7820692C>A	ENST00000338316.4	+	24	3102	c.3013C>A	c.(3013-3015)Cct>Act	p.P1005T	ADCY2_ENST00000537121.1_Missense_Mutation_p.P825T	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1005					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TAACCATGGACCTGTGATAGC	0.423000													5	41					0.00116845	0.00125543	1	1	0
TRBV6-5	28602	broad.mit.edu	37	7	142180772	142180772	+	RNA	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:142180772G>C	ENST00000390368.2	-	0	152																											TCAGGACCTGGAATTTTGGGG	0.532000													36	157					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321418	56321418	+	Silent	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:56321418G>A	ENST00000443188.1	-	5	1268	c.558C>T	c.(556-558)ctC>ctT	p.L186L	NLRP11_ENST00000589824.2_Silent_p.L186L|NLRP11_ENST00000360133.3_Silent_p.L186L|NLRP11_ENST00000589093.1_Silent_p.L186L|NLRP11_ENST00000592953.1_Silent_p.L87L	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	186	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CGTGAGCAGTGAGGTGAACGA	0.502000													13	30					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48177639	48177639	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:48177639A>G	ENST00000418331.2	+	21	3758	c.3406A>G	c.(3406-3408)Att>Gtt	p.I1136V		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1136	Tyrosine-protein phosphatase.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATATGCCATCATTATGTTGAC	0.323000													10	138					0	0	1	0	0
CMAS	55907	broad.mit.edu	37	12	22208541	22208541	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:22208541G>T	ENST00000229329.2	+	3	686	c.556G>T	c.(556-558)Gga>Tga	p.G186*		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	186					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						AATTCAGAAAGGAGGTAATCT	0.343000													31	43					2.46105e-21	3.94655e-21	1	1	0
CHRM2	1129	broad.mit.edu	37	7	136699780	136699780	+	Silent	SNP	C	C	G	rs78847341		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:136699780C>G	ENST00000445907.2	+	3	696	c.168C>G	c.(166-168)acC>acG	p.T56T	AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000402486.3_Silent_p.T56T|CHRM2_ENST00000453373.1_Silent_p.T56T|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Silent_p.T56T|CHRM2_ENST00000401861.1_Silent_p.T56T|CHRM2_ENST00000320658.5_Silent_p.T56T|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000593789.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	56					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ACCTCCAGACCGTCAACAATT	0.458000													31	142					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119976997	119976997	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:119976997G>T	ENST00000313400.4	-	3	755	c.655C>A	c.(655-657)Ctg>Atg	p.L219M	ASTN2_ENST00000361209.2_Missense_Mutation_p.L219M|ASTN2_ENST00000373996.3_Missense_Mutation_p.L219M|ASTN2_ENST00000361477.3_De_novo_Start_InFrame			O75129	ASTN2_HUMAN	astrotactin 2	219						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACCAGCAGCAGCAGCAGCAGC	0.602000													5	36					0.014758	0.0153322	1	1	0
CPZ	8532	broad.mit.edu	37	4	8621185	8621185	+	Silent	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr4:8621185C>A	ENST00000429646.2	+	9	3417	c.624C>A	c.(622-624)ccC>ccA	p.P208P	CPZ_ENST00000360986.4_Silent_p.P600P|CPZ_ENST00000382480.2_Silent_p.P463P|CPZ_ENST00000315782.6_Silent_p.P589P			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	600					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						GGACTGGGCCCCACGACCCAC	0.677000													16	28					1.87028e-06	2.2194e-06	1	1	0
NPY5R	4889	broad.mit.edu	37	4	164271568	164271568	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr4:164271568A>G	ENST00000515560.1	+	4	1665	c.143A>G	c.(142-144)tAt>tGt	p.Y48C	NPY5R_ENST00000506953.1_Missense_Mutation_p.Y48C|NPY5R_ENST00000338566.3_Missense_Mutation_p.Y48C			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	48					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTGGGCTCTATACATTTGTA	0.388000													20	132					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78443862	78443862	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:78443862G>A	ENST00000397909.2	+	10	2286	c.2113G>A	c.(2113-2115)Ggg>Agg	p.G705R	NAV3_ENST00000266692.7_Missense_Mutation_p.G705R|NAV3_ENST00000536525.2_Missense_Mutation_p.G705R|NAV3_ENST00000228327.6_Missense_Mutation_p.G705R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	705						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGTCTTCGTGGGACTCAGAT	0.333000										HNSCC(70;0.22)			7	49					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128192773	128192773	+	Silent	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr10:128192773G>A	ENST00000284694.7	-	3	1116	c.996C>T	c.(994-996)ggC>ggT	p.G332G	C10orf90_ENST00000356858.3_Silent_p.G285G|C10orf90_ENST00000392694.1_Silent_p.G285G|C10orf90_ENST00000454341.1_Silent_p.G332G|C10orf90_ENST00000544758.1_Silent_p.G429G|C10orf90_ENST00000368674.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	332										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TCCAGCGCTGGCCTACGAGGT	0.547000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	73					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56469916	56469916	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr6:56469916G>T	ENST00000370754.5	-	39	9410	c.9411C>A	c.(9409-9411)ttC>ttA	p.F3137L	DST_ENST00000446842.2_Missense_Mutation_p.F2633L|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.F2959L|DST_ENST00000312431.6_Missense_Mutation_p.F2959L|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.F2959L|DST_ENST00000421834.2_Intron			Q03001	DYST_HUMAN	dystonin	2959					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTCCATCAGTGAATGACTCCT	0.348000													13	19					0.00010058	0.000112599	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139190849	139190849	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr8:139190849G>T	ENST00000395297.1	-	10	1128	c.958C>A	c.(958-960)Cag>Aag	p.Q320K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	320										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCAGGAACTGGGTCCACAGA	0.527000										HNSCC(54;0.14)			9	48					5.4927e-09	7.15391e-09	1	1	0
PROM1	8842	broad.mit.edu	37	4	16000077	16000077	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr4:16000077C>A	ENST00000505450.1	-	14	2198	c.1586G>T	c.(1585-1587)tGg>tTg	p.W529L	PROM1_ENST00000540805.1_Missense_Mutation_p.W538L|PROM1_ENST00000508167.1_Missense_Mutation_p.W529L|PROM1_ENST00000539194.1_Missense_Mutation_p.W538L|PROM1_ENST00000510224.1_Missense_Mutation_p.W538L|PROM1_ENST00000543373.1_Missense_Mutation_p.W529L|PROM1_ENST00000447510.2_Missense_Mutation_p.W538L	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	538					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ATAGTATTCCCAGTCTTCATT	0.294000													4	15					0.00024832	0.000272845	1	1	0
USH2A	7399	broad.mit.edu	37	1	215847560	215847560	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:215847560A>C	ENST00000366943.2	-	63	14079	c.13693T>G	c.(13693-13695)Tat>Gat	p.Y4565D	USH2A_ENST00000307340.3_Missense_Mutation_p.Y4565D			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4565	Fibronectin type-III 31.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGAGGGTATAATTGATGATA	0.403000										HNSCC(13;0.011)			8	163					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33956991	33956991	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:33956991A>G	ENST00000361328.3	+	6	1286	c.1133A>G	c.(1132-1134)tAt>tGt	p.Y378C	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.Y324C	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	378					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CAATGTCGCTATAGGGTCAAA	0.577000													21	113					0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44782260	44782260	+	Silent	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:44782260A>T	ENST00000266534.3	+	8	1477	c.1350A>T	c.(1348-1350)cgA>cgT	p.R450R	TMEM117_ENST00000536799.1_Silent_p.R346R|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	450						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		GAATCACTCGAGAAAACACCC	0.423000													12	133					0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58025111	58025111	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:58025111A>C	ENST00000341156.4	-	3	839	c.255T>G	c.(253-255)agT>agG	p.S85R	B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000552350.1_Missense_Mutation_p.S85R|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.S85R|B4GALNT1_ENST00000550764.1_Missense_Mutation_p.S85R	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	85					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGCCCCCCCCACTGGACTCAC	0.582000													17	102					0	0	1	0	0
DES	1674	broad.mit.edu	37	2	220285636	220285636	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:220285636C>G	ENST00000373960.3	+	5	1070	c.984C>G	c.(982-984)atC>atG	p.I328M		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	328	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GACACCAGATCCAGTCCTACA	0.602000													14	20					0	0	1	0	0
ACOT7	11332	broad.mit.edu	37	1	6387461	6387461	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:6387461C>A	ENST00000361521.4	-	5	1514	c.523G>T	c.(523-525)Gag>Tag	p.E175*	ACOT7_ENST00000541130.1_Nonsense_Mutation_p.E155*|ACOT7_ENST00000377845.3_Nonsense_Mutation_p.E155*|ACOT7_ENST00000377855.2_Nonsense_Mutation_p.E185*|ACOT7_ENST00000377842.3_Nonsense_Mutation_p.E134*|ACOT7_ENST00000545482.1_Nonsense_Mutation_p.E70*	NM_007274.3	NP_009205.3	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	185						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		TCCTCCTGCTCCTGCCGGGAA	0.637000													5	33					0.000602214	0.000648352	1	1	0
MORN5	254956	broad.mit.edu	37	9	124936822	124936822	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr9:124936822G>T	ENST00000536616.1	+	4	393	c.355G>T	c.(355-357)Ggc>Tgc	p.G119C	MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000373764.3_Missense_Mutation_p.G119C			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	119										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						AATCCCCAAGGGCTATTACGA	0.463000													10	99					4.68919e-08	5.85053e-08	1	1	0
HEPHL1	341208	broad.mit.edu	37	11	93822121	93822121	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:93822121G>A	ENST00000315765.9	+	12	2289	c.2281G>A	c.(2281-2283)Gca>Aca	p.A761T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	761	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCACGTGGACGCAAGAGGGGA	0.542000													9	74					0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79954652	79954652	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:79954652G>T	ENST00000306729.7	+	7	960	c.863G>T	c.(862-864)gGc>gTc	p.G288V	ASPSCR1_ENST00000306739.4_Missense_Mutation_p.G288V|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.G211V	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	288							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TCCAAGTCGGGCCAGGATCCC	0.647000			T	TFE3	alveolar soft part sarcoma								16	138					5.01169e-05	5.68205e-05	1	1	0
RASGRP3	25780	broad.mit.edu	37	2	33747028	33747028	+	Silent	SNP	C	C	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:33747028C>T	ENST00000403687.3	+	7	1115	c.375C>T	c.(373-375)tcC>tcT	p.S125S	RASGRP3_ENST00000407811.1_Silent_p.S125S|RASGRP3_ENST00000402538.3_Silent_p.S125S	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	125	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ATAGTCCTTCCTATGACTGGA	0.443000													27	101					0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47315804	47315804	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr13:47315804C>G	ENST00000389798.3	+	19	2205	c.2008C>G	c.(2008-2010)Ctg>Gtg	p.L670V	LRCH1_ENST00000389797.3_Missense_Mutation_p.L705V|LRCH1_ENST00000311191.6_Intron	NM_015116.2	NP_055931.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	670	CH.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GTGTGACATCCTGCAGTTGGA	0.517000													93	337					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38991770	38991770	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr3:38991770C>A	ENST00000302328.3	-	1	282	c.84G>T	c.(82-84)gaG>gaT	p.E28D	SCN11A_ENST00000456224.3_Missense_Mutation_p.E28D|SCN11A_ENST00000444237.2_Missense_Mutation_p.E28D|SCN11A_ENST00000450244.1_Missense_Mutation_p.E28D	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	28					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAATCCGCTTCTCAATTGCAG	0.512000													6	110					8.12818e-05	9.11859e-05	1	1	0
TUBB8	347688	broad.mit.edu	37	10	93213	93213	+	Silent	SNP	G	G	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr10:93213G>A	ENST00000447903.2	-	4	1218	c.903C>T	c.(901-903)gcC>gcT	p.A301A	TUBB8_ENST00000309812.4_Silent_p.A373A			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	373					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GTTCCTGGATGGCCGTATTAT	0.537000													22	104					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1168816	1168816	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:1168816T>C	ENST00000308624.5	+	8	667	c.538T>C	c.(538-540)Tcc>Ccc	p.S180P	SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	180					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAGTGGGGCCTCCTCTCCCCT	0.473000													43	199					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153182019	153182019	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:153182019A>G	ENST00000285900.5	+	15	2832	c.2489A>G	c.(2488-2490)tAc>tGc	p.Y830C	GRIA1_ENST00000340592.5_Missense_Mutation_p.Y830C|GRIA1_ENST00000521843.2_Missense_Mutation_p.Y761C|GRIA1_ENST00000518142.1_Missense_Mutation_p.Y750C|GRIA1_ENST00000448073.4_Missense_Mutation_p.Y840C|GRIA1_ENST00000518783.1_Missense_Mutation_p.Y840C	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	830					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAGTTCTGCTACAAATCCCGT	0.532000													85	78					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670208	158670208	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:158670208G>C	ENST00000359610.2	-	1	278	c.235C>G	c.(235-237)Cca>Gca	p.P79A		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGCATCTTTGGGATTGTGGCT	0.463000													18	132					0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144662698	144662698	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr8:144662698G>C	ENST00000532741.1	-	6	2066	c.1838C>G	c.(1837-1839)tCc>tGc	p.S613C	EEF1D_ENST00000317198.6_Missense_Mutation_p.S197C|EEF1D_ENST00000529272.1_Missense_Mutation_p.S197C|EEF1D_ENST00000528610.1_Missense_Mutation_p.S173C|EEF1D_ENST00000442189.2_Missense_Mutation_p.S563C|EEF1D_ENST00000423316.2_Missense_Mutation_p.S563C|EEF1D_ENST00000419152.2_Missense_Mutation_p.S197C|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000395119.3_Missense_Mutation_p.S197C|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000531621.1_Missense_Mutation_p.S154C|EEF1D_ENST00000526838.1_Missense_Mutation_p.S178C|EEF1D_ENST00000524624.1_Missense_Mutation_p.S173C			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	197					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CAGCAGGATGGAGGACTTGGC	0.667000													19	44					0	0	1	0	0
CSNK1G3	1456	broad.mit.edu	37	5	122893250	122893250	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr5:122893250G>T	ENST00000395412.1	+	4	1000	c.281G>T	c.(280-282)gGa>gTa	p.G94V	CSNK1G3_ENST00000360683.2_Missense_Mutation_p.G94V|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.G94V|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.G94V|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.G94V|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.G19V|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.G94V|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.G94V|CSNK1G3_ENST00000511130.2_Intron	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	94	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AAGCAGTTAGGATCTGGAGGT	0.294000													28	13					2.12542e-12	2.95566e-12	1	1	0
TNR	7143	broad.mit.edu	37	1	175292530	175292530	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:175292530A>T	ENST00000367674.1	-	23	4748	c.4040T>A	c.(4039-4041)cTc>cAc	p.L1347H	TNR_ENST00000263525.2_Missense_Mutation_p.L1347H|RP3-518E13.2_ENST00000569593.1_RNA	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1347					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCCTGCCATGAGACGGTGGTT	0.468000													12	112					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56388492	56388492	+	Missense_Mutation	SNP	C	C	T	rs147716168		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:56388492C>T	ENST00000301295.6	+	8	3078	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	NLRP4_ENST00000587891.1_Missense_Mutation_p.R811W|NLRP4_ENST00000346986.5_Missense_Mutation_p.R830W	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	886							ATP binding	p.R886W(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTGTTGTGTCGGGCTCTGAC	0.498000													12	116					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894335	123894335	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr11:123894335G>T	ENST00000375024.1	+	1	616	c.616G>T	c.(616-618)Gcc>Tcc	p.A206S		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGGCTAGTGGCCTCGGGCTG	0.547000													27	181					3.6726e-16	5.49347e-16	1	1	0
ARNTL2	56938	broad.mit.edu	37	12	27571064	27571064	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:27571064G>T	ENST00000544915.1	+	15	1826	c.1607G>T	c.(1606-1608)gGg>gTg	p.G536V	ARNTL2_ENST00000395901.2_Missense_Mutation_p.G533V|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000546179.1_Intron|ARNTL2_ENST00000311001.5_Missense_Mutation_p.G556V|ARNTL2_ENST00000542388.1_Missense_Mutation_p.G485V|ARNTL2_ENST00000266503.5_Missense_Mutation_p.G570V|ARNTL2_ENST00000261178.5_Missense_Mutation_p.G522V	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	570					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TCTGAAATGGGGGAGCTAGAG	0.458000													11	84					5.50884e-06	6.38117e-06	1	1	0
FLG	2312	broad.mit.edu	37	1	152276467	152276468	+	In_Frame_Ins	INS	-	-	GGA			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr1:152276467_152276468insGGA	ENST00000368799.1	-	3	10929_10930	c.10894_10895insTCC	c.(10894-10896)gtc>TCCgtc	p.3631_3632insS	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3631	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGCTGACTGCTGGTGGTGG	0.554									Ichthyosis				11	1717	---	---	---	---					
DARS	1615	broad.mit.edu	37	2	136680448	136680449	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr2:136680448_136680449insT	ENST00000264161.4	-	9	931_932	c.716_717insA	c.(715-717)tttfs	p.F239fs	DARS_ENST00000537273.1_Frame_Shift_Ins_p.F139fs	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	239					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	TATTTTTAAAATATGACACAGT	0.337													7	87	---	---	---	---					
CPNE4	131034	broad.mit.edu	37	3	131388605	131388605	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr3:131388605delC	ENST00000512055.1	-	11	2721	c.595delG	c.(595-597)tgfs	p.V199fs	CPNE4_ENST00000429747.1_Frame_Shift_Del_p.V199fs|CPNE4_ENST00000502818.1_Frame_Shift_Del_p.V217fs|CPNE4_ENST00000512332.1_Frame_Shift_Del_p.V217fs|CPNE4_ENST00000511604.1_Frame_Shift_Del_p.V199fs			Q96A23	CPNE4_HUMAN	copine IV	199	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TTATTCATCACAACCTGGGAA	0.433													7	74	---	---	---	---					
FAM193A	8603	broad.mit.edu	37	4	2702235	2702237	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr4:2702235_2702237delAAG	ENST00000324666.5	+	17	3814_3816	c.3463_3465delAAG	c.(3463-3465)del	p.K1158del	FAM193A_ENST00000545951.1_In_Frame_Del_p.K1158del|FAM193A_ENST00000505311.1_In_Frame_Del_p.K1158del|FAM193A_ENST00000502458.1_In_Frame_Del_p.K1180del|FAM193A_ENST00000382839.3_In_Frame_Del_p.K1158del	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1158	Poly-Lys.									NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CAAGAAAAATAAGAAGAAGAAAG	0.488													8	49	---	---	---	---					
CHRNA9	55584	broad.mit.edu	37	4	40337967	40337967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr4:40337967delC	ENST00000310169.2	+	2	327	c.188delC	c.(187-189)agfs	p.T63fs		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	63					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	p.T63M(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CTGCAGATTACGCTCTCTCAG	0.388													22	135	---	---	---	---					
NAT16	375607	broad.mit.edu	37	7	100815599	100815599	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:100815599delC	ENST00000300303.2	-	4	1109	c.871delG	c.(871-873)acfs	p.D291fs	NAT16_ENST00000455377.1_Frame_Shift_Del_p.D291fs	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	291							N-acetyltransferase activity										CAAGTGCCGTCCCCTCCGTGC	0.736													3	6	---	---	---	---					
KMT2E	55904	broad.mit.edu	37	7	104753135	104753136	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr7:104753135_104753136delGA	ENST00000334877.4	+	26	5340_5341	c.4806_4807delGA	c.(4804-4809)ccatfs	p.PN1602fs	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.PN1644fs|KMT2E_ENST00000311117.3_Frame_Shift_Del_p.PN1644fs					lysine (K)-specific methyltransferase 2E																		TACAACAGCCGAATTCCCATCA	0.554													8	94	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77775594	77775595	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr8:77775594_77775595insC	ENST00000521891.2	+	11	10092_10093	c.9644_9645insC	c.(9643-9645)cccfs	p.P3215fs	ZFHX4_ENST00000518282.1_Frame_Shift_Ins_p.P3189fs|ZFHX4_ENST00000050961.6_Frame_Shift_Ins_p.P3166fs|ZFHX4_ENST00000455469.2_Frame_Shift_Ins_p.P3170fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3166						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCCGAAAAACACCCCAAAAAAG	0.406										HNSCC(33;0.089)			7	82	---	---	---	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													3	6	---	---	---	---					
SLC18A3	6572	broad.mit.edu	37	10	50819100	50819100	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr10:50819100delG	ENST00000374115.3	+	1	754	c.314delG	c.(313-315)tgfs	p.W105fs	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	105					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						ACAGCTGCGTGGCCAGCGGGC	0.677													15	62	---	---	---	---					
YBX3	8531	broad.mit.edu	37	12	10854578	10854578	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr12:10854578delG	ENST00000228251.4	-	8	1234	c.1034delC	c.(1033-1035)ctfs	p.P345fs	YBX3_ENST00000546164.1_5'UTR|YBX3_ENST00000279550.7_Frame_Shift_Del_p.P276fs	NM_003651.4	NP_003642.3			Y box binding protein 3																		ATCTTGTGAAGGAGCGTTAGG	0.507													8	309	---	---	---	---					
ARID4A	5926	broad.mit.edu	37	14	58830971	58830972	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr14:58830971_58830972insA	ENST00000355431.3	+	20	2537_2538	c.2164_2165insA	c.(2164-2166)aaafs	p.K722fs	ARID4A_ENST00000348476.3_Frame_Shift_Ins_p.K722fs|ARID4A_ENST00000431317.2_Frame_Shift_Ins_p.K722fs|ARID4A_ENST00000395168.3_Frame_Shift_Ins_p.K722fs	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	722					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGATGAACTAGAAAAAAATGAA	0.277													14	83	---	---	---	---					
SPECC1	92521	broad.mit.edu	37	17	20209395	20209395	+	Splice_Site	DEL	G	G	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:20209395delG	ENST00000395530.2	+	12	3082	c.2874_splice	c.e12+1	p.L958_splice	AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Splice_Site_p.L1039_splice|SPECC1_ENST00000536879.1_Splice_Site_p.L379_splice|SPECC1_ENST00000261503.5_Splice_Site_p.L1039_splice	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	1039						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AACCCAGCCTGGTACGTATCC	0.358													29	46	---	---	---	---					
RP11-51L5.5	0	broad.mit.edu	37	17	60365852	60365852	+	RNA	DEL	T	T	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:60365852delT	ENST00000602493.1	-	0	569																											ATATCTTTTCTTTTTGAAACA	0.333													7	31	---	---	---	---					
ITGB4	3691	broad.mit.edu	37	17	73732157	73732158	+	Frame_Shift_Del	DEL	GT	GT	-	rs121912463		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr17:73732157_73732158delGT	ENST00000200181.3	+	14	1870_1871	c.1683_1684delGT	c.(1681-1686)cagtfs	p.QC561fs	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000449880.2_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000339591.3_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000579662.1_Frame_Shift_Del_p.QC561fs	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	561	Cysteine-rich tandem repeats.				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)			CCATGGGCCAGTGTGTGTGTGA	0.604													7	227	---	---	---	---					
ZNF14	7561	broad.mit.edu	37	19	19822589	19822592	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:19822589_19822592delTCTC	ENST00000344099.3	-	4	1636_1639	c.1498_1501delGAGA	c.(1498-1503)aafs	p.EK500fs		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCATAGGGTTTCTCTCCAGTGTGT	0.387													23	170	---	---	---	---					
ISOC2	79763	broad.mit.edu	37	19	55967772	55967772	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr19:55967772delG	ENST00000438389.2	-	2	916	c.82delC	c.(82-84)gcfs	p.R28fs	ISOC2_ENST00000425675.2_Frame_Shift_Del_p.R28fs|ISOC2_ENST00000085068.3_Frame_Shift_Del_p.R28fs	NM_001136202.1	NP_001129674.1	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	0					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		ATGTTGTGGCGGAACTTCTCC	0.622													15	74	---	---	---	---					
TMC2	117532	broad.mit.edu	37	20	2592980	2592980	+	Frame_Shift_Del	DEL	G	G	-	rs144037278		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	ce851db4-b8ff-4b99-9474-f9e393d89791	g.chr20:2592980delG	ENST00000358864.1	+	13	1752	c.1737delG	c.(1735-1737)gtfs	p.V579fs	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	579						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGACAGCTGTGGGCATTGTGA	0.488													9	77	---	---	---	---					
RP11-423O2.5	0	broad.mit.edu	37	1	142803302	142803302	+	RNA	DEL	C	C	-	rs79529551		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:142803302delC	ENST00000423385.1	-	0	1663																											acaacaacaacaaACAGGATG	0.388													4	7	---	---	---	---					
TCHH	7062	broad.mit.edu	37	1	152082957	152082959	+	In_Frame_Del	DEL	CTC	CTC	-	rs143222885	by1000genomes	TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr1:152082957_152082959delCTC	ENST00000368804.1	-	2	2733_2735	c.2734_2736delGAG	c.(2734-2736)del	p.E912del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	912	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)			CTCTCTGTAGCTCCTCCTCCTCC	0.586													8	434	---	---	---	---					
DARS	1615	broad.mit.edu	37	2	136680448	136680449	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr2:136680448_136680449insT	ENST00000264161.4	-	9	931_932	c.716_717insA	c.(715-717)tttfs	p.F239fs	DARS_ENST00000537273.1_Frame_Shift_Ins_p.F139fs	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	239					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	TATTTTTAAAATATGACACAGT	0.337													7	87	---	---	---	---					
CPNE4	131034	broad.mit.edu	37	3	131388605	131388605	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr3:131388605delC	ENST00000512055.1	-	11	2721	c.595delG	c.(595-597)tgfs	p.V199fs	CPNE4_ENST00000512332.1_Frame_Shift_Del_p.V217fs|CPNE4_ENST00000429747.1_Frame_Shift_Del_p.V199fs|CPNE4_ENST00000511604.1_Frame_Shift_Del_p.V199fs|CPNE4_ENST00000502818.1_Frame_Shift_Del_p.V217fs			Q96A23	CPNE4_HUMAN	copine IV	199	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TTATTCATCACAACCTGGGAA	0.433													7	74	---	---	---	---					
FAM193A	8603	broad.mit.edu	37	4	2702235	2702237	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr4:2702235_2702237delAAG	ENST00000324666.5	+	17	3814_3816	c.3463_3465delAAG	c.(3463-3465)del	p.K1158del	FAM193A_ENST00000545951.1_In_Frame_Del_p.K1158del|FAM193A_ENST00000502458.1_In_Frame_Del_p.K1180del|FAM193A_ENST00000505311.1_In_Frame_Del_p.K1158del|FAM193A_ENST00000382839.3_In_Frame_Del_p.K1158del	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1158	Poly-Lys.									NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CAAGAAAAATAAGAAGAAGAAAG	0.488													8	49	---	---	---	---					
CHRNA9	55584	broad.mit.edu	37	4	40337967	40337967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr4:40337967delC	ENST00000310169.2	+	2	327	c.188delC	c.(187-189)agfs	p.T63fs		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	63					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	p.T63M(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CTGCAGATTACGCTCTCTCAG	0.388													22	135	---	---	---	---					
NAT16	375607	broad.mit.edu	37	7	100815599	100815599	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:100815599delC	ENST00000300303.2	-	4	1109	c.871delG	c.(871-873)acfs	p.D291fs	NAT16_ENST00000455377.1_Frame_Shift_Del_p.D291fs	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	291							N-acetyltransferase activity										CAAGTGCCGTCCCCTCCGTGC	0.736													3	6	---	---	---	---					
KMT2E	55904	broad.mit.edu	37	7	104753135	104753136	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr7:104753135_104753136delGA	ENST00000334877.4	+	26	5340_5341	c.4806_4807delGA	c.(4804-4809)ccatfs	p.PN1602fs	KMT2E_ENST00000311117.3_Frame_Shift_Del_p.PN1644fs|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.PN1644fs|SRPK2_ENST00000493638.1_Intron					lysine (K)-specific methyltransferase 2E																		TACAACAGCCGAATTCCCATCA	0.554													8	94	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77775594	77775595	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr8:77775594_77775595insC	ENST00000521891.2	+	11	10092_10093	c.9644_9645insC	c.(9643-9645)cccfs	p.P3215fs	ZFHX4_ENST00000050961.6_Frame_Shift_Ins_p.P3166fs|ZFHX4_ENST00000455469.2_Frame_Shift_Ins_p.P3170fs|ZFHX4_ENST00000518282.1_Frame_Shift_Ins_p.P3189fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3166						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCCGAAAAACACCCCAAAAAAG	0.406										HNSCC(33;0.089)			7	82	---	---	---	---					
SLC18A3	6572	broad.mit.edu	37	10	50819100	50819100	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr10:50819100delG	ENST00000374115.3	+	1	754	c.314delG	c.(313-315)tgfs	p.W105fs	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	105					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						ACAGCTGCGTGGCCAGCGGGC	0.677													15	62	---	---	---	---					
YBX3	8531	broad.mit.edu	37	12	10854578	10854578	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr12:10854578delG	ENST00000228251.4	-	8	1234	c.1034delC	c.(1033-1035)ctfs	p.P345fs	YBX3_ENST00000546164.1_5'UTR|YBX3_ENST00000279550.7_Frame_Shift_Del_p.P276fs	NM_003651.4	NP_003642.3			Y box binding protein 3																		ATCTTGTGAAGGAGCGTTAGG	0.507													8	309	---	---	---	---					
ARID4A	5926	broad.mit.edu	37	14	58830971	58830972	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr14:58830971_58830972insA	ENST00000355431.3	+	20	2537_2538	c.2164_2165insA	c.(2164-2166)aaafs	p.K722fs	ARID4A_ENST00000395168.3_Frame_Shift_Ins_p.K722fs|ARID4A_ENST00000431317.2_Frame_Shift_Ins_p.K722fs|ARID4A_ENST00000348476.3_Frame_Shift_Ins_p.K722fs	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	722					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGATGAACTAGAAAAAAATGAA	0.277													14	83	---	---	---	---					
SPECC1	92521	broad.mit.edu	37	17	20209395	20209395	+	Splice_Site	DEL	G	G	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:20209395delG	ENST00000395530.2	+	12	3082	c.2874_splice	c.e12+1	p.L958_splice	SPECC1_ENST00000261503.5_Splice_Site_p.L1039_splice|SPECC1_ENST00000395527.4_Splice_Site_p.L1039_splice|SPECC1_ENST00000536879.1_Splice_Site_p.L379_splice|AC004702.2_ENST00000580225.1_lincRNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	1039						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AACCCAGCCTGGTACGTATCC	0.358													29	46	---	---	---	---					
RP11-51L5.5	0	broad.mit.edu	37	17	60365852	60365852	+	RNA	DEL	T	T	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr17:60365852delT	ENST00000602493.1	-	0	569																											ATATCTTTTCTTTTTGAAACA	0.333													7	31	---	---	---	---					
ZNF14	7561	broad.mit.edu	37	19	19822589	19822592	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:19822589_19822592delTCTC	ENST00000344099.3	-	4	1636_1639	c.1498_1501delGAGA	c.(1498-1503)aafs	p.EK500fs		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCATAGGGTTTCTCTCCAGTGTGT	0.387													23	170	---	---	---	---					
ISOC2	79763	broad.mit.edu	37	19	55967772	55967772	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr19:55967772delG	ENST00000438389.2	-	2	916	c.82delC	c.(82-84)gcfs	p.R28fs	ISOC2_ENST00000425675.2_Frame_Shift_Del_p.R28fs|ISOC2_ENST00000085068.3_Frame_Shift_Del_p.R28fs	NM_001136202.1	NP_001129674.1	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	0					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		ATGTTGTGGCGGAACTTCTCC	0.622													15	74	---	---	---	---					
TMC2	117532	broad.mit.edu	37	20	2592980	2592980	+	Frame_Shift_Del	DEL	G	G	-	rs144037278		TCGA-55-7576-01A-11D-2063-08	TCGA-55-7576-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8e60b5b-1c41-426f-90a8-b63c97124d04	1d2a659b-5a90-4b75-9fed-c250ab543f49	g.chr20:2592980delG	ENST00000358864.1	+	13	1752	c.1737delG	c.(1735-1737)gtfs	p.V579fs	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	579						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGACAGCTGTGGGCATTGTGA	0.488													9	77	---	---	---	---					
