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
ACTR1B	10120	broad.mit.edu	37	2	98274416	98274416	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:98274416C>T	ENST00000289228.5	-	8	1131	c.915G>A	c.(913-915)acG>acA	p.T305T		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	305						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CTTTGAAAAGCGTTGAGCCAC	0.587000													28	54					0	0	1	0	0
OR6C74	254783	broad.mit.edu	37	12	55641265	55641265	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:55641265C>T	ENST00000343870.4	+	1	284	c.194C>T	c.(193-195)tCa>tTa	p.S65L		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S65*(1)		central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						CGAAATTTCTCATTTTTAGAA	0.403000													16	142					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5624545	5624545	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:5624545G>A	ENST00000310917.2	-	14	2711	c.1980C>T	c.(1978-1980)acC>acT	p.T660T	EVC2_ENST00000344938.1_Silent_p.T740T|EVC2_ENST00000344408.5_Silent_p.T740T	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	740						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						ACAGCGAAAGGGTCAGGGTCC	0.647000													19	56					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	114112908	114112908	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:114112908C>T	ENST00000335953.4	+	5	1853	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Silent_p.F491F|RP11-64D24.2_ENST00000544925.1_RNA	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	491					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGGCCGTCTTCTGTCTGCTGT	0.597000													16	25					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133824223	133824223	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:133824223G>A	ENST00000285928.2	+	3	509	c.440G>A	c.(439-441)gGa>gAa	p.G147E	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	147							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ATTCTCTGTGGATATGTTCAT	0.323000													8	13					0	0	1	0	0
PTCRA	171558	broad.mit.edu	37	6	42883815	42883815	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:42883815G>A	ENST00000304672.1	+	1	89	c.8G>A	c.(7-9)gGt>gAt	p.G3D	PTCRA_ENST00000446507.1_Missense_Mutation_p.G3D|PTCRA_ENST00000441198.1_Missense_Mutation_p.G3D	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	3						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GCCATGGCCGGTACATGGCTG	0.647000													34	143					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642939	1642939	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:1642939C>T	ENST00000399682.1	-	1	429	c.385G>A	c.(385-387)Gga>Aga	p.G129R		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	129	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCACAGCCTCCTTTGGAGCCC	0.652000													69	116					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2375099	2375099	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:2375099G>A	ENST00000202625.2	+	2	70	c.7_splice	c.e2-1	p.G3_splice	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Splice_Site_p.G3_splice	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	3					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCCACCCAGGGATCAGAGTCA	0.612000													12	32					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70977848	70977848	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:70977848G>A	ENST00000393567.2	-	42	6686	c.6536C>T	c.(6535-6537)tCc>tTc	p.S2179F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2179										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGGCTGgaggaaatctgttg	0.567000													3	13					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200968576	200968576	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:200968576C>T	ENST00000332129.2	-	13	2102	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	KIF21B_ENST00000422435.2_Missense_Mutation_p.E596K|KIF21B_ENST00000360529.5_Missense_Mutation_p.E596K|KIF21B_ENST00000461742.2_Missense_Mutation_p.E596K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	596					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGCCACTCTCGTCTCGCTCT	0.632000													15	71					0	0	1	0	0
IGHG3	3502	broad.mit.edu	37	14	106237585	106237585	+	RNA	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:106237585G>A	ENST00000390551.2	-	0	157																											GGACAGCCGGGAAGGTGTGCA	0.647000													17	29					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86286850	86286850	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:86286850C>T	ENST00000394518.2	+	36	8281	c.8186C>T	c.(8185-8187)cCa>cTa	p.P2729L	AKAP13_ENST00000394510.2_Missense_Mutation_p.P974L|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.P2733L	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2729	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TCAGTGTCCCCAAAAAGGAAC	0.522000													61	124					0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157078279	157078279	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:157078279C>T	ENST00000265007.6	-	1	1149	c.808G>A	c.(808-810)Ggg>Agg	p.G270R	SOX30_ENST00000311371.5_Missense_Mutation_p.G270R|SOX30_ENST00000519442.1_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	270					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCCGGGCCCCAGGGGGGACC	0.602000													29	60					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12120528	12120528	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:12120528C>T	ENST00000379388.2	+	4	832	c.500C>T	c.(499-501)tCc>tTc	p.S167F		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	167					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)				GACTCAAGTTCCTTGTCAAGT	0.473000													37	203					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118628677	118628677	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:118628677G>A	ENST00000336338.5	-	13	1695	c.1630C>T	c.(1630-1632)Cca>Tca	p.P544S		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	544						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATTTGAACTGGATCAAAATTC	0.418000													23	19					0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33698385	33698385	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:33698385C>T	ENST00000253193.7	+	7	2419	c.2217C>T	c.(2215-2217)ccC>ccT	p.P739P		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	739					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CCCTGGGCCCCCACTCGCCAG	0.697000													4	10					0	0	1	0	0
LPGAT1	9926	broad.mit.edu	37	1	212002577	212002577	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:212002577C>T	ENST00000366997.4	-	2	288	c.62G>A	c.(61-63)aGg>aAg	p.R21K	LPGAT1_ENST00000366996.1_Missense_Mutation_p.R21K|LPGAT1_ENST00000488600.1_5'UTR	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	21					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		GAAGGCAAACCTCATCAGTGC	0.498000													49	99					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229273	8229273	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:8229273G>A	ENST00000539824.1	+	12	1998	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	SH3TC1_ENST00000245105.3_Missense_Mutation_p.E618K			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	618							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GAAGAACCGGGAGAAGTGTGC	0.657000													30	71					0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74282223	74282223	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:74282223C>T	ENST00000253577.3	-	14	1902	c.1878G>A	c.(1876-1878)aaG>aaA	p.K626K	ABCB7_ENST00000373394.3_Silent_p.K625K|ABCB7_ENST00000339447.4_Silent_p.K585K	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	625	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CTGGGGGGTCCTTCAAAATGG	0.343000													12	31					0	0	1	0	0
LRRC61	65999	broad.mit.edu	37	7	150034533	150034533	+	Missense_Mutation	SNP	G	G	A	rs61744057	byFrequency	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:150034533G>A	ENST00000359623.4	+	3	1171	c.583G>A	c.(583-585)Gag>Aag	p.E195K	LRRC61_ENST00000493307.1_Missense_Mutation_p.E195K|LRRC61_ENST00000323078.7_Missense_Mutation_p.E195K	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	195										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CAGAGCCACCGAGGCCCAGCC	0.667000													15	25					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393849	164393849	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:164393849C>T	ENST00000280605.3	-	1	1198	c.1038G>A	c.(1036-1038)acG>acA	p.T346T		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	346						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGGAGTTCATCGTGTCACCAC	0.423000													36	54					0	0	1	0	0
ESR2	2100	broad.mit.edu	37	14	64699906	64699906	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:64699906C>T	ENST00000341099.4	-	9	1959	c.1542G>A	c.(1540-1542)ccG>ccA	p.P514P	ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000555278.1_Intron|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000357782.2_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Intron|ESR2_ENST00000267525.6_Silent_p.P423P|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000553796.1_Intron	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	514	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TGTCCTCTGCCGGGCTGCACT	0.597000													14	45					0	0	1	0	0
KCNV2	169522	broad.mit.edu	37	9	2718272	2718272	+	Missense_Mutation	SNP	C	C	T	rs144949136		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:2718272C>T	ENST00000382082.3	+	1	771	c.533C>T	c.(532-534)cCg>cTg	p.P178L		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	178						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GGGCTGTGTCCGCGCCGCTTC	0.652000													6	10					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130278705	130278705	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:130278705G>A	ENST00000257359.6	-	7	2587	c.1881C>T	c.(1879-1881)tgC>tgT	p.C627C		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	627	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCCGGGCTCGGCAGAACAACT	0.587000													39	73					0	0	1	0	0
NPPC	4880	broad.mit.edu	37	2	232790347	232790347	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:232790347G>A	ENST00000409852.1	-	2	322	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	NPPC_ENST00000295440.2_Missense_Mutation_p.P57S	NM_024409.2	NP_077720.1	P23582	ANFC_HUMAN	natriuretic peptide C	57					cGMP biosynthetic process|growth plate cartilage chondrocyte differentiation|growth plate cartilage chondrocyte proliferation|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vasoconstriction		hormone activity						all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;9.35e-14)|BRCA - Breast invasive adenocarcinoma(100;0.00119)|LUSC - Lung squamous cell carcinoma(224;0.00746)|Lung(119;0.00834)		CCGCCCCCGGGAGCCTTGTCG	0.731000													7	5					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47614387	47614387	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:47614387G>A	ENST00000371891.3	+	12	1509	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.R395Q	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	493						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCATGGCACGACTTGTGTTG	0.562000													32	14					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614241	36614241	+	Missense_Mutation	SNP	C	C	T	rs2037101		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:36614241C>T	ENST00000311485.3	-	2	1639	c.1478G>A	c.(1477-1479)aGa>aAa	p.R493K		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	493					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GGGTAGGACTCTTTGGGGAGT	0.438000									Familial Hemophagocytic Lymphohistiocytosis				23	45					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187000064	187000064	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:187000064A>G	ENST00000296795.2	+	3	616	c.512A>G	c.(511-513)gAa>gGa	p.E171G		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	171					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GTTCAGCTGGAAAATCTCCAA	0.308000													5	22					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123256301	123256301	+	Missense_Mutation	SNP	G	G	A	rs144930255		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:123256301G>A	ENST00000451558.1	+	7	655	c.134G>A	c.(133-135)aGa>aAa	p.R45K	ASB15_ENST00000275699.3_Missense_Mutation_p.R45K|ASB15_ENST00000451215.1_Missense_Mutation_p.R45K|ASB15_ENST00000540573.1_Missense_Mutation_p.R45K|RP11-390E23.3_ENST00000440504.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000434204.1_Missense_Mutation_p.R45K			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	45					intracellular signal transduction			p.R45K(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GCTCAAAACAGAAAACTTGTG	0.343000													5	26					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682230	100682230	+	Silent	SNP	T	T	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:100682230T>C	ENST00000306151.4	+	3	7597	c.7533T>C	c.(7531-7533)agT>agC	p.S2511S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2511	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTGCTAGTGAAGGAAGTA	0.488000													144	233					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117817113	117817113	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:117817113A>T	ENST00000276204.6	+	52	6109	c.6035A>T	c.(6034-6036)tAc>tTc	p.Y2012F	DOCK11_ENST00000276202.7_Missense_Mutation_p.Y2012F			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	2012	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAAGTTGAGTACCATGAAGGG	0.358000													30	95					0	0	1	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37250042	37250042	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:37250042C>T	ENST00000373491.3	+	4	649	c.503C>T	c.(502-504)tCg>tTg	p.S168L		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	168						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			GCCCGGATCTCGGATCAGAAC	0.537000													18	76					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35742482	35742482	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:35742482G>A	ENST00000400441.3	-	20	2601	c.2602C>T	c.(2602-2604)Cca>Tca	p.P868S	MROH8_ENST00000217333.8_Missense_Mutation_p.P697S|MROH8_ENST00000441008.2_Missense_Mutation_p.P854S					maestro heat-like repeat family member 8																		TTCTTATCTGGGTTTTTTACA	0.463000													15	36					0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869958	52869958	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:52869958C>T	ENST00000601151.1	+	5	1650	c.1198C>T	c.(1198-1200)Ctt>Ttt	p.L400F	ZNF610_ENST00000327920.8_Missense_Mutation_p.L443F|ZNF610_ENST00000321287.8_Missense_Mutation_p.L443F|ZNF610_ENST00000403906.3_Missense_Mutation_p.L443F	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AAATCCACACCTTTCACGACA	0.413000													20	39					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188444	140188444	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:140188444G>A	ENST00000530339.1	+	1	1672	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	PCDHA4_ENST00000356878.4_Missense_Mutation_p.E558K|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E558K|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGGACGAAAACGACAA	0.667000													48	78					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52486840	52486840	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:52486840G>A	ENST00000216286.5	-	13	2730	c.2731C>T	c.(2731-2733)Cct>Tct	p.P911S	NID2_ENST00000541773.1_Missense_Mutation_p.P810S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	911	EGF-like 5; calcium-binding (Potential).					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AAGGAACCAGGAGTATTGTAG	0.458000													25	50					0	0	1	0	0
IGHG3	3502	broad.mit.edu	37	14	106236253	106236253	+	RNA	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:106236253G>A	ENST00000390551.2	-	0	550																											CAGGGGTCCGGGAAATCATAA	0.582000													38	72					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15989660	15989660	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:15989660G>A	ENST00000268712.3	-	23	3370	c.3113C>T	c.(3112-3114)cCg>cTg	p.P1038L	NCOR1_ENST00000395851.1_Missense_Mutation_p.P1054L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1038	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.P1038R(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTTGGATGACGGGATGAGAGG	0.488000													31	53					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40078671	40078671	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:40078671G>A	ENST00000324616.5	+	10	1443	c.1289G>A	c.(1288-1290)gGa>gAa	p.G430E	C12orf40_ENST00000405531.3_Missense_Mutation_p.G430E	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	430										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATCCTTAGGGGAAATATACCT	0.368000													8	40					0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24906739	24906739	+	Silent	SNP	G	G	A	rs149187760		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:24906739G>A	ENST00000413389.2	+	4	1776	c.183G>A	c.(181-183)acG>acA	p.T61T	UPB1_ENST00000326010.5_Silent_p.T129T			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	129					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CCTTCTGTACGAGAGAGAAGC	0.527000													26	103					0	0	1	0	0
C10orf2	56652	broad.mit.edu	37	10	102747982	102747982	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:102747982C>T	ENST00000370228.1	+	1	200	c.15C>T	c.(13-15)ctC>ctT	p.L5L	C10orf2_ENST00000311916.2_Silent_p.L5L|C10orf2_ENST00000473656.1_Intron	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	5					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGGTCCTCCTCCGAAGTGGGT	0.582000													31	54					0	0	1	0	0
RRP9	9136	broad.mit.edu	37	3	51967526	51967526	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:51967526G>A	ENST00000232888.6	-	15	1497	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	475					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		AGAGTGTCAGGAACCAGCAGC	0.522000													19	25					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398000													4	158					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107323675	107323675	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:107323675G>A	ENST00000265715.3	+	7	1018	c.794G>A	c.(793-795)gGt>gAt	p.G265D		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	265					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CAAAATATTGGTGATACCAAT	0.398000									Pendred syndrome				23	32					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70989852	70989852	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:70989852G>A	ENST00000256389.3	-	2	2017	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	541	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CACAGTGACCGAAACGGTTTC	0.418000													25	33					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141750572	141750572	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:141750572C>T	ENST00000475668.2	+	24	2767	c.2713C>T	c.(2713-2715)Ctt>Ttt	p.L905F	MGAM_ENST00000549489.2_Missense_Mutation_p.L905F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	905	Maltase.				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)	GATTAAAATTCTTGGGACGGA	0.383000													10	30					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152322315	152322315	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:152322315C>T	ENST00000243326.4	+	29	6764	c.6281C>T	c.(6280-6282)tCt>tTt	p.S2094F	RIF1_ENST00000453091.2_Missense_Mutation_p.S2094F|RIF1_ENST00000444746.2_Missense_Mutation_p.S2094F|RIF1_ENST00000428287.2_Missense_Mutation_p.S2094F|RIF1_ENST00000430328.2_Missense_Mutation_p.S2094F			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2094	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TATAGTAAATCTGAAGAAAAA	0.348000													20	27					0	0	1	0	0
LOC154761	154761	broad.mit.edu	37	7	143510117	143510117	+	RNA	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:143510117G>A	ENST00000494978.1	-	0	1461					NR_015421.1																						TCGAGCCCCCGTGGTGACTCA	0.582000													5	19					0	0	1	0	0
RRAGB	10325	broad.mit.edu	37	X	55784716	55784716	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:55784716G>A	ENST00000374941.4	+	10	1570	c.981G>A	c.(979-981)agG>agA	p.R327R	RRAGB_ENST00000262850.7_Silent_p.R355R	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	355					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GCAATGCCAGGAAACACTTTG	0.443000													6	17					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46001021	46001021	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:46001021G>A	ENST00000296137.2	-	12	3656	c.3451C>T	c.(3451-3453)Ctc>Ttc	p.L1151F	FYCO1_ENST00000535325.1_Missense_Mutation_p.L1151F	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1151					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTCTGCCAGAGAGCATCCTTG	0.483000													25	19					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520922	175520922	+	Silent	SNP	T	T	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:175520922T>A	ENST00000454872.1	+	14	2447	c.2319T>A	c.(2317-2319)atT>atA	p.I773I		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	773					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGAACAGCATTAATTCAGCTC	0.413000													9	24					0	0	1	0	0
TMEM177	80775	broad.mit.edu	37	2	120439309	120439309	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:120439309C>T	ENST00000424086.1	+	2	1353	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	TMEM177_ENST00000401466.1_Missense_Mutation_p.R294C|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.R294C|TMEM177_ENST00000409951.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	294						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CTACACCACCCGCCGGGACTC	0.582000													37	77					0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1085685	1085685	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:1085685G>A	ENST00000313093.2	+	23	3322	c.3091G>A	c.(3091-3093)Gac>Aac	p.D1031N	HMHA1_ENST00000543365.1_Missense_Mutation_p.D914N|HMHA1_ENST00000539243.2_Missense_Mutation_p.D1047N|HMHA1_ENST00000536472.1_Missense_Mutation_p.D899N|HMHA1_ENST00000591169.1_3'UTR|HMHA1_ENST00000590577.1_Missense_Mutation_p.D666N|HMHA1_ENST00000590214.1_Missense_Mutation_p.D1058N|HMHA1_ENST00000586866.1_Missense_Mutation_p.D1035N	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	1031					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACGATTCGGACTCGGACCT	0.617000													4	11					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208483	140208483	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:140208483G>A	ENST00000529310.1	+	1	921	c.807G>A	c.(805-807)cgG>cgA	p.R269R	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.R269R|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTGATCGGGATGAAGGAG	0.398000													42	127					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196720612	196720612	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:196720612C>T	ENST00000312428.6	-	45	8618	c.8518G>A	c.(8518-8520)Gaa>Aaa	p.E2840K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2840	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCTGAACTTCCTTAAGGGCT	0.433000													62	157					0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31793921	31793921	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:31793921C>T	ENST00000382902.1	-	8	1235	c.1143G>A	c.(1141-1143)atG>atA	p.M381I	OTUD7A_ENST00000307050.4_Missense_Mutation_p.M374I			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	374	Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CTCTCTGTTCCATGGACACAA	0.572000													39	66					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52163718	52163718	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:52163718C>T	ENST00000354534.5	+	18	3617	c.3439C>T	c.(3439-3441)Cct>Tct	p.P1147S	SCN8A_ENST00000545061.1_Missense_Mutation_p.P1147S	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1147					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGAAGAGGTCCCTGTGGAACA	0.517000													4	5					0	0	1	0	0
MRPL46	26589	broad.mit.edu	37	15	89002879	89002879	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:89002879G>A	ENST00000312475.4	-	4	846	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	MRPL46_ENST00000559538.1_5'UTR	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	269						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			ACTTGGGCCAGGTATTTTGGT	0.502000													29	52					0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50815202	50815202	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:50815202C>T	ENST00000540145.1	+	10	1979	c.1564C>T	c.(1564-1566)Cgg>Tgg	p.R522W	CYLD_ENST00000566206.1_Missense_Mutation_p.R519W|CYLD_ENST00000311559.9_Missense_Mutation_p.R522W|CYLD_ENST00000398568.2_Missense_Mutation_p.R519W|CYLD_ENST00000427738.3_Missense_Mutation_p.R522W|CYLD_ENST00000564326.1_Missense_Mutation_p.R519W|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000569418.1_Missense_Mutation_p.R519W			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	522	CAP-Gly 3.|Interaction with IKBKG/NEMO.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CAGAGGCACTCGGTATTTCAC	0.468000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				22	47					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115822613	115822613	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:115822613G>A	ENST00000343348.6	-	10	1581	c.794C>T	c.(793-795)tCt>tTt	p.S265F	SEMA6A_ENST00000510263.1_Missense_Mutation_p.S265F|SEMA6A_ENST00000257414.8_Missense_Mutation_p.S265F|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	265	Sema.				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)		GACTCTTTGAGATCCTCCCAT	0.438000													27	56					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163361167	163361167	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:163361167C>T	ENST00000332142.5	-	6	1013	c.913_splice	c.e6-1	p.G305_splice	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Splice_Site_p.G298_splice	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	305					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATTAAAAGGCCCTAAAAAAAT	0.368000													11	19					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9024197	9024197	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:9024197G>A	ENST00000397910.4	-	18	37278	c.37075C>T	c.(37075-37077)Cct>Tct	p.P12359S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12361					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						GAGGTCCCAGGAGCTGAGGAA	0.483000													5	16					0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131476847	131476847	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:131476847C>T	ENST00000291906.4	+	12	1881	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	496	Pro-rich.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						ACAGTAATTTCCTGCCCAAGA	0.582000													16	68					0	0	1	0	0
LINC00174	285908	broad.mit.edu	37	7	65842436	65842436	+	RNA	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:65842436C>T	ENST00000421767.1	-	0	3296					NR_026873.1																						CCTGGAGCGGCCGCCAACAGG	0.706000													3	7					0	0	1	0	0
KRTAP12-4	386684	broad.mit.edu	37	21	46074412	46074412	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:46074412G>A	ENST00000391618.1	-	1	164	c.120C>T	c.(118-120)ccC>ccT	p.P40P	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	40	15 X 5 AA approximate repeats.					keratin filament				lung(4)|ovary(1)|prostate(1)	6						GAGCCACACAGGGGGCTGAGC	0.697000													7	22					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521086	39521086	+	Missense_Mutation	SNP	G	G	A	rs61741661	byFrequency	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:39521086G>A	ENST00000251646.3	-	6	1091	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	348	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CACTCCAGCCGCGCCCGCACG	0.632000													57	81					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													6	40					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65625748	65625748	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:65625748G>A	ENST00000327987.4	-	6	1080	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	277	Ig-like C2-type 3.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCGATAGGGCGACCATCTGCA	0.567000													11	13					0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56587329	56587329	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:56587329C>T	ENST00000336078.4	+	4	2586	c.1810C>T	c.(1810-1812)Ccc>Tcc	p.P604S	ZNF532_ENST00000591083.1_Missense_Mutation_p.P604S|ZNF532_ENST00000589288.1_Missense_Mutation_p.P604S|ZNF532_ENST00000591230.1_Missense_Mutation_p.P604S|ZNF532_ENST00000591808.1_Missense_Mutation_p.P604S	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	604					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CCTCAGTCCTCCCGCCAATGC	0.542000													12	25					0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74468145	74468145	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:74468145G>A	ENST00000249842.3	+	2	1303	c.946G>A	c.(946-948)Gac>Aac	p.D316N	ISLR_ENST00000395118.1_Missense_Mutation_p.D316N|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	316	Ig-like.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCTTATCCCCGACTTTGGCAA	0.662000													24	24					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49004380	49004380	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:49004380C>T	ENST00000600059.1	-	10	1251	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	LMTK3_ENST00000270238.3_Missense_Mutation_p.E371K					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TCAAACAGCTCCCACAGGGTC	0.657000													8	14					0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19747196	19747196	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:19747196G>A	ENST00000332710.4	+	2	159	c.30G>A	c.(28-30)atG>atA	p.M10I	TBX1_ENST00000329705.7_Missense_Mutation_p.M10I|TBX1_ENST00000359500.3_Missense_Mutation_p.M10I	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	10					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CCAGGGACATGGAAGGTGAGC	0.682000													8	19					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047620	9047620	+	Silent	SNP	C	C	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:9047620C>A	ENST00000397910.4	-	5	34214	c.34011G>T	c.(34009-34011)gtG>gtT	p.V11337V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11339	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						GGGACTCAGGCACTGTTGGAA	0.488000													14	124					0.0167234	0.0168072	1	1	0
KIAA1804	84451	broad.mit.edu	37	1	233497904	233497904	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:233497904G>A	ENST00000366624.3	+	5	1678	c.1417G>A	c.(1417-1419)Gac>Aac	p.D473N	MLK4_ENST00000366623.3_Missense_Mutation_p.D473N	NM_032435.2	NP_115811.2																					GCGCGAGATCGACGTGCTGGA	0.547000													13	28					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26690285	26690285	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:26690285C>T	ENST00000529632.2	+	3	1059	c.863C>T	c.(862-864)cCt>cTt	p.P288L	SEZ6L_ENST00000343706.4_Missense_Mutation_p.P288L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P288L|SEZ6L_ENST00000248933.6_Missense_Mutation_p.P288L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P288L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P61L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.P61L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	288	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TTCTCCAATCCTGAGGGGTAC	0.517000													37	141					0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50327352	50327352	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:50327352C>T	ENST00000394697.2	+	6	1115	c.775C>T	c.(775-777)Cgt>Tgt	p.R259C	ADCY7_ENST00000538642.1_Missense_Mutation_p.R259C|ADCY7_ENST00000537579.1_Missense_Mutation_p.R259C|ADCY7_ENST00000566433.2_Missense_Mutation_p.R259C|ADCY7_ENST00000254235.3_Missense_Mutation_p.R259C|ADCY7_ENST00000564044.1_3'UTR			P51828	ADCY7_HUMAN	adenylate cyclase 7	259					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GCATGGTGACCGTCGCTGCAT	0.582000													6	59					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144097292	144097292	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:144097292C>T	ENST00000467773.1	-	5	957	c.958G>A	c.(958-960)Ggg>Agg	p.G320R	NOBOX_ENST00000483238.1_Intron|NOBOX_ENST00000223140.5_Intron	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	320					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.G320W(1)|p.?(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GAGCCGGCCCCCTTTACCATG	0.587000													24	49					0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128184767	128184767	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:128184767G>A	ENST00000453608.2	+	7	938	c.930G>A	c.(928-930)atG>atA	p.M310I	PROC_ENST00000409048.1_Missense_Mutation_p.M289I|PROC_ENST00000234071.3_Missense_Mutation_p.M255I|PROC_ENST00000422777.3_Missense_Mutation_p.M255I			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	255	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CCCACTGCATGGATGAGTCCA	0.637000													29	61					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965875	35965875	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:35965875G>A	ENST00000274278.3	-	4	813	c.456C>T	c.(454-456)ttC>ttT	p.F152F	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Silent_p.F118F|UGT3A1_ENST00000333811.4_Silent_p.F98F|UGT3A1_ENST00000503189.1_Silent_p.F152F	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	152						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGCAATCAGGAAAGAACAGA	0.398000													18	40					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20999337	20999337	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:20999337C>T	ENST00000261383.3	-	45	6651	c.6652G>A	c.(6652-6654)Gac>Aac	p.D2218N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2218	AAA 3 (By similarity).				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)		GTTAAAATGTCATCCTCAAAG	0.403000													25	50					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49208241	49208241	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:49208241C>T	ENST00000340334.7	-	6	917	c.549G>A	c.(547-549)ggG>ggA	p.G183G	FOLH1_ENST00000533034.1_Silent_p.G183G|FOLH1_ENST00000256999.2_Silent_p.G198G|FOLH1_ENST00000356696.3_Silent_p.G198G|FOLH1_ENST00000343844.4_5'UTR	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	198					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TTACAATTTTCCCAGAGCAAT	0.368000													13	38					0	0	1	0	0
CRYBA1	1411	broad.mit.edu	37	17	27580694	27580694	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:27580694G>A	ENST00000225387.3	+	5	395	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	132	Beta/gamma crystallin 'Greek key' 3.				visual perception	soluble fraction	structural constituent of eye lens			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CTTTGAGAAGGAAAACTTTAT	0.408000													14	35					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127760187	127760187	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:127760187C>T	ENST00000368679.4	-	12	1500	c.1191G>A	c.(1189-1191)agG>agA	p.R397R	ADAM12_ENST00000368676.4_Silent_p.R397R	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	397	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCAAGTCCTTCCTGCTGCAAC	0.542000													20	62					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756633	94756633	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:94756633A>T	ENST00000554723.1	-	2	836	c.418T>A	c.(418-420)Ttc>Atc	p.F140I	SERPINA10_ENST00000554173.1_Missense_Mutation_p.F100I|SERPINA10_ENST00000393096.1_Missense_Mutation_p.F100I|SERPINA10_ENST00000261994.4_Missense_Mutation_p.F100I			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	100					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AATGGAGAGAAGACCATGTTG	0.572000													5	41					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60909244	60909244	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:60909244G>A	ENST00000252999.3	-	22	2803	c.2737C>T	c.(2737-2739)Cag>Tag	p.Q913*		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	913	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGCCCACCTGGACAGGTGCC	0.677000													17	42					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598213	179598213	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:179598213C>T	ENST00000589042.1	-	54	16031	c.15807G>A	c.(15805-15807)ctG>ctA	p.L5269L	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.L4025L|TTN_ENST00000591111.1_Silent_p.L4952L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4952	Ig-like 33.						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)			TCACCTGGATCAGTTCTGCTC	0.468000													52	155					0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54135382	54135382	+	Missense_Mutation	SNP	C	C	T	rs148896232	byFrequency	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:54135382C>T	ENST00000376650.1	+	1	73	c.22C>T	c.(22-24)Cgt>Tgt	p.R8C		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	8						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AGAGGATCTTCGTAAAGGTAA	0.507000													48	70					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154841787	154841787	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:154841787C>T	ENST00000271915.3	-	1	969	c.654G>A	c.(652-654)gaG>gaA	p.E218E		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	223						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			AGATGACGATCTCCGGGGGGT	0.652000													15	41					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21795958	21795958	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:21795958C>T	ENST00000206660.6	+	17	2887	c.2887C>T	c.(2887-2889)Cct>Tct	p.P963S	RPGRIP1_ENST00000382933.4_Missense_Mutation_p.P289S|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.P963S|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.P322S|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P925S|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.P620S			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	963	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGCTTCATTTCCTTCCCAGGT	0.468000													6	13					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40757460	40757460	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:40757460G>A	ENST00000373198.3	-	20	3082	c.2847C>T	c.(2845-2847)tcC>tcT	p.S949S	PTPRT_ENST00000373184.1_Silent_p.S917S|PTPRT_ENST00000373190.1_Silent_p.S926S|PTPRT_ENST00000373193.3_Silent_p.S930S|PTPRT_ENST00000373201.1_Silent_p.S917S|PTPRT_ENST00000356100.2_Silent_p.S936S|PTPRT_ENST00000373187.1_Silent_p.S927S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	927	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCCTCACCCGGGAATGGTCGT	0.517000													16	48					0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5789499	5789499	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:5789499G>A	ENST00000309061.7	-	3	715	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	207					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						AGGCCGTTGCGGATGGACGGG	0.726000													5	18					0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135323382	135323382	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:135323382C>T	ENST00000316077.9	-	5	692	c.472G>A	c.(472-474)Gat>Aat	p.D158N	MAP7D3_ENST00000370661.1_Missense_Mutation_p.D158N|MAP7D3_ENST00000370663.5_Missense_Mutation_p.D140N	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	158						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TGCTGATAATCATCAGCAAGT	0.323000													10	28					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94006392	94006392	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:94006392C>T	ENST00000282020.4	+	3	749	c.491C>T	c.(490-492)gCc>gTc	p.A164V	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	164					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ACAGAGTATGCCTGGCAGAAA	0.393000													22	67					0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113920500	113920500	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:113920500C>T	ENST00000348367.4	-	16	1818	c.1621G>A	c.(1621-1623)Gga>Aga	p.G541R	GPAM_ENST00000423155.1_Missense_Mutation_p.G541R|GPAM_ENST00000369425.1_Missense_Mutation_p.G541R			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	541					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		ACACAATTTCCCAGCAGCTGT	0.453000													4	35					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475504	42475504	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:42475504G>A	ENST00000434000.1	-	9	3989	c.3707C>T	c.(3706-3708)cCt>cTt	p.P1236L	GPATCH8_ENST00000591680.1_Missense_Mutation_p.P1314L			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1314						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CATCTCCTCAGGGGTGAAGGT	0.562000													35	64					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122862265	122862265	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:122862265G>A	ENST00000358808.2	-	3	482	c.328C>T	c.(328-330)Cag>Tag	p.Q110*	CLIP1_ENST00000540338.1_Nonsense_Mutation_p.Q110*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.Q110*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.Q110*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.Q110*	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	110	CAP-Gly 1.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GGTTCACACTGGAAATACCGA	0.493000													68	37					0	0	1	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20212314	20212314	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:20212314G>A	ENST00000379565.3	-	6	686	c.479C>T	c.(478-480)tCc>tTc	p.S160F	RPS6KA3_ENST00000379548.4_Missense_Mutation_p.S131F|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.S132F|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.S132F	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	160	Protein kinase 1.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|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|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						TACCTCTTTGGATAAGCGTGT	0.299000													7	12					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7633762	7633762	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:7633762G>A	ENST00000359156.4	-	15	3540	c.3338C>T	c.(3337-3339)tCc>tTc	p.S1113F	CD163_ENST00000432237.2_Missense_Mutation_p.S1113F|CD163_ENST00000396620.3_Missense_Mutation_p.S1146F|CD163_ENST00000541972.1_Missense_Mutation_p.S1101F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1113					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						CAGACCTGAGGAATTCATTAG	0.443000													31	79					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990747	47990747	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:47990747C>T	ENST00000371741.4	-	2	1516	c.1350G>A	c.(1348-1350)atG>atA	p.M450I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	450					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAGCATCCTTCATGTTCATGG	0.453000													41	215					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203708958	203708958	+	Silent	SNP	A	A	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:203708958A>G	ENST00000357681.5	+	21	4717	c.3594A>G	c.(3592-3594)ctA>ctG	p.L1198L	ATP2B4_ENST00000341360.2_3'UTR|ATP2B4_ENST00000367218.3_3'UTR|ATP2B4_ENST00000367219.3_3'UTR|ATP2B4_ENST00000391954.2_3'UTR	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1234					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACAGCTCTCTACAGAGCCTAG	0.468000													6	36					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55866947	55866947	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:55866947G>A	ENST00000422046.2	-	1	302	c.21C>T	c.(19-21)atC>atT	p.I7I	CES1_ENST00000360526.3_Silent_p.I7I|CES1_ENST00000361503.4_Silent_p.I7I			P23141	EST1_HUMAN	carboxylesterase 1	7				RAFI -> PALV (in Ref. 3; BAA04650, 8; BAC87749/BAC87751, 9; BAF83312/BAF84898 and 11; AAH12418).	response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GAGTGGCCAGGATAAAGGCAC	0.597000													24	35					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4576243	4576243	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:4576243G>A	ENST00000269230.7	-	19	2000	c.1775C>T	c.(1774-1776)gCc>gTc	p.A592V	PELP1_ENST00000572293.1_Silent_p.G731G|PELP1_ENST00000574876.1_Silent_p.G681G|PELP1_ENST00000436683.2_Silent_p.G534G|PELP1_ENST00000301396.4_Silent_p.G825G			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	656					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AAGGCATGGGGCCTGCTGAGG	0.692000													27	49					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004356	187004356	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:187004356C>T	ENST00000296795.2	+	4	1620	c.1516C>T	c.(1516-1518)Cgt>Tgt	p.R506C	TLR3_ENST00000504367.1_Missense_Mutation_p.R229C	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	506					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CCAGCCTCTTCGTAACTTGAC	0.453000													21	71					0	0	1	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117985983	117985983	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:117985983G>A	ENST00000534111.1	+	11	1399	c.1134G>A	c.(1132-1134)gtG>gtA	p.V378V	TMPRSS4_ENST00000437212.3_Silent_p.V380V|TMPRSS4_ENST00000523251.1_Silent_p.V340V|TMPRSS4_ENST00000522824.1_Silent_p.V375V|TMPRSS4_ENST00000518413.2_Intron|TMPRSS4_ENST00000522307.1_Silent_p.V233V	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	380	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		AAGGGGGTGTGGACACCTGCC	0.557000													3	18					0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13221031	13221031	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:13221031G>A	ENST00000592062.1	-	9	1530	c.960C>T	c.(958-960)ttC>ttT	p.F320F	TRMT1_ENST00000221504.8_Silent_p.F320F|TRMT1_ENST00000357720.4_Silent_p.F320F|TRMT1_ENST00000437766.1_Silent_p.F320F			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	320							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CACGCACGTAGAAGTCAGCGC	0.642000													15	29					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52859943	52859943	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:52859943G>A	ENST00000266041.4	-	6	814	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	ITIH4_ENST00000485816.1_Missense_Mutation_p.R240C|ITIH4_ENST00000406595.1_Missense_Mutation_p.R240C|ITIH4_ENST00000434759.3_Missense_Mutation_p.R152C|ITIH4_ENST00000346281.5_Missense_Mutation_p.R240C	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	240					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACATCATAGCGGATAATGAGG	0.567000													15	28					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107434952	107434952	+	Translation_Start_Site	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:107434952C>T	ENST00000340010.5	-	2	187	c.3G>A	c.(1-3)atG>atA	p.M1I	SLC26A3_ENST00000422236.2_5'UTR	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	1					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						AGGGTTCAATCATTTTGATTT	0.383000													22	22					0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44981505	44981505	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:44981505G>A	ENST00000221327.4	-	5	1474	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	ZNF180_ENST00000592529.1_Missense_Mutation_p.S371F|ZNF180_ENST00000391956.4_Missense_Mutation_p.S373F	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TCTCTGATGGGAAACAAGGTG	0.443000													25	49					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2711115	2711115	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:2711115C>T	ENST00000399655.1	+	22	3214	c.2949C>T	c.(2947-2949)tcC>tcT	p.S983S	CACNA1C_ENST00000399603.1_Silent_p.S983S|CACNA1C_ENST00000399591.1_Silent_p.S983S|CACNA1C_ENST00000399641.1_Silent_p.S983S|CACNA1C_ENST00000399601.1_Silent_p.S983S|CACNA1C_ENST00000399649.1_Silent_p.S983S|CACNA1C_ENST00000402845.3_Silent_p.S983S|CACNA1C_ENST00000399637.1_Silent_p.S983S|CACNA1C_ENST00000327702.7_Silent_p.S983S|CACNA1C_ENST00000399597.1_Silent_p.S983S|CACNA1C_ENST00000344100.3_Silent_p.S983S|CACNA1C_ENST00000406454.3_Silent_p.S983S|CACNA1C_ENST00000399617.1_Silent_p.S983S|CACNA1C_ENST00000335762.5_Silent_p.S1008S|CACNA1C_ENST00000399644.1_Silent_p.S983S|CACNA1C_ENST00000399606.1_Silent_p.S1003S|CACNA1C_ENST00000399638.1_Silent_p.S983S|CACNA1C_ENST00000399595.1_Silent_p.S983S|CACNA1C_ENST00000347598.4_Silent_p.S1003S|CACNA1C_ENST00000399634.1_Silent_p.S983S|CACNA1C_ENST00000480911.1_Silent_p.S983S|CACNA1C_ENST00000399629.1_Silent_p.S983S|CACNA1C_ENST00000399621.1_Silent_p.S983S	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1003					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCCTCATCTCCTTTGGCATCC	0.587000													17	51					0	0	1	0	0
SLC6A8	6535	broad.mit.edu	37	X	152959641	152959641	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:152959641C>T	ENST00000253122.5	+	9	1787	c.1311C>T	c.(1309-1311)taC>taT	p.Y437Y	SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Silent_p.Y322Y	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	437					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CGGCCTCCTACTACTTCCGTT	0.622000													44	53					0	0	1	0	0
CPLX2	10814	broad.mit.edu	37	5	175306914	175306914	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:175306914G>A	ENST00000359546.4	+	5	914	c.271G>A	c.(271-273)Gag>Aag	p.E91K	CPLX2_ENST00000515094.1_Missense_Mutation_p.E91K|CPLX2_ENST00000393745.3_Missense_Mutation_p.E91K	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	91	Interaction with the SNARE complex (By similarity).				mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCAGCCCTGCGAGGGGAGCCT	0.642000													7	8					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													7	39					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3200887	3200887	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:3200887G>A	ENST00000520002.1	-	24	4118	c.3563C>T	c.(3562-3564)tCc>tTc	p.S1188F	CSMD1_ENST00000602723.1_Missense_Mutation_p.S1188F|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1187F|CSMD1_ENST00000602557.1_Missense_Mutation_p.S1188F|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1187F|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1188F|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1187F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1188	CUB 7.					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)		CAGGTGATTGGATGTGCTGTT	0.433000													14	37					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559097	140559097	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:140559097C>T	ENST00000239444.2	+	1	1727	c.1482C>T	c.(1480-1482)ccC>ccT	p.P494P		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		494	Cadherin 5.				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)			TGCTGCCGCCCCAGGATCCGC	0.672000													73	549					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88767406	88767406	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:88767406A>G	ENST00000497649.2	+	6	1692	c.1314A>G	c.(1312-1314)atA>atG	p.I438M	MEPE_ENST00000540395.1_Missense_Mutation_p.I349M|MEPE_ENST00000361056.3_Missense_Mutation_p.I462M|MEPE_ENST00000395102.4_Missense_Mutation_p.I493M|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000560249.1_Missense_Mutation_p.I349M|MEPE_ENST00000424957.3_Missense_Mutation_p.I462M			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	462					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ATGAGAATATAATAACACATG	0.423000													19	22					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982181	7982181	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:7982181G>A	ENST00000328600.2	-	2	1139	c.978C>T	c.(976-978)tcC>tcT	p.S326S		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	326	NACHT.						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)		CCGTGAAATAGGAGCTGAAGT	0.517000													43	71					0	0	1	0	0
PLIN1	5346	broad.mit.edu	37	15	90213254	90213254	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:90213254C>T	ENST00000300055.5	-	5	720	c.555G>A	c.(553-555)gaG>gaA	p.E185E	PLIN1_ENST00000430628.2_Silent_p.E185E	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	185					triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						CCACCACCTTCTCAATGCTGC	0.612000													5	9					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41018442	41018442	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:41018442C>T	ENST00000399564.4	-	27	3214		c.e27+1		MROH2B_ENST00000506092.2_Splice_Site	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GGATTACTTACCTCAATATCA	0.428000													5	7					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140392578	140392578	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:140392578C>T	ENST00000406427.1	-	17	2213	c.1877G>A	c.(1876-1878)cGa>cAa	p.R626Q	PNPLA7_ENST00000277531.4_Missense_Mutation_p.R601Q|PNPLA7_ENST00000371457.1_Missense_Mutation_p.R207Q	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	601					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTATATTGCTCGCCCGGCCTC	0.622000													26	52					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594824	140594824	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:140594824G>A	ENST00000341948.4	+	1	1316	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		377	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTTGATTCAGGAGAAAATGG	0.463000													40	88					0	0	1	0	0
ASCL3	56676	broad.mit.edu	37	11	8959517	8959517	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:8959517G>A	ENST00000325884.1	-	2	251	c.192C>T	c.(190-192)atC>atT	p.I64I	ASCL3_ENST00000531618.1_Silent_p.I64I	NM_020646.1	NP_065697.1	Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	63					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		AATTTCCCAGGATAAGAGAGT	0.567000													20	43					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55144091	55144091	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:55144091G>A	ENST00000396331.1	+	7	1195	c.838G>A	c.(838-840)Gcc>Acc	p.A280T	LILRB1_ENST00000396327.3_Missense_Mutation_p.A280T|LILRB1_ENST00000396332.4_Missense_Mutation_p.A280T|LILRB1_ENST00000418536.2_Missense_Mutation_p.A280T|LILRB1_ENST00000427581.2_Missense_Mutation_p.A316T|LILRB1_ENST00000434867.2_Missense_Mutation_p.A280T|LILRB1_ENST00000396317.1_Missense_Mutation_p.A280T|LILRB1_ENST00000448689.1_Missense_Mutation_p.A280T|LILRB1_ENST00000396315.1_Missense_Mutation_p.A280T|LILRB1_ENST00000396321.2_Missense_Mutation_p.A280T|LILRB1_ENST00000324602.7_Missense_Mutation_p.A280T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	280	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GCTCTCCCAGGCCAACTTCAC	0.627000										HNSCC(37;0.09)			30	56					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149247552	149247552	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:149247552C>T	ENST00000407073.1	+	12	4649	c.3652C>T	c.(3652-3654)Cat>Tat	p.H1218Y	MBD5_ENST00000404807.1_Missense_Mutation_p.H1451Y	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1218						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATTTTTAGATCATCCAGGCCA	0.498000													30	70					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31600667	31600667	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:31600667G>A	ENST00000389082.5	-	6	1930	c.1666C>T	c.(1666-1668)Cca>Tca	p.P556S	DENND5B_ENST00000306833.6_Missense_Mutation_p.P591S|DENND5B_ENST00000536562.1_Missense_Mutation_p.P591S|DENND5B_ENST00000354285.4_Missense_Mutation_p.P578S	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	556	dDENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GAAAGAAATGGCAGGTAAGGC	0.398000													9	16					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634363	32634363	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:32634363C>T	ENST00000242310.4	-	1	1304	c.1215G>A	c.(1213-1215)agG>agA	p.R405R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	405					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCTCAAGTTTCCTAAATTCCT	0.458000													40	140					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179483200	179483200	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:179483200C>T	ENST00000589042.1	-	252	47209	c.46985G>A	c.(46984-46986)cGt>cAt	p.R15662H	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6789H|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6722H|TTN_ENST00000460472.2_Missense_Mutation_p.R6597H|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13094H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R14021H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14021	Ig-like 98.						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)			TTCTAAGTTACGTACTGGCCC	0.393000													11	26					0	0	1	0	0
CRYAA	1409	broad.mit.edu	37	21	44592193	44592193	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:44592193T>A	ENST00000291554.2	+	3	417	c.325T>A	c.(325-327)Tac>Aac	p.Y109N	CRYAA_ENST00000398133.1_Missense_Mutation_p.Y89N|CRYAA_ENST00000398132.1_Missense_Mutation_p.Y72N|CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	109					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CGACCACGGCTACATTTCCCG	0.677000													14	36					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183189970	183189970	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:183189970G>A	ENST00000264144.4	+	5	579	c.514G>A	c.(514-516)Ggt>Agt	p.G172S	LAMC2_ENST00000493293.1_Missense_Mutation_p.G172S	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	172	Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GTGTCGATCAGGTTACTATAA	0.443000													14	26					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958926	51958926	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:51958926C>T	ENST00000321424.3	-	4	863	c.797G>A	c.(796-798)gGa>gAa	p.G266E	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.G173E|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.G157E	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	266	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGAGCCATTTCCCAGGGCTGT	0.532000													12	45					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43241446	43241446	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:43241446G>A	ENST00000422911.1	-	17	2309	c.2208C>T	c.(2206-2208)aaC>aaT	p.N736N	PRDM15_ENST00000447207.2_Silent_p.N679N|PRDM15_ENST00000538201.1_Silent_p.N699N|PRDM15_ENST00000269844.3_Silent_p.N1045N|PRDM15_ENST00000398548.1_Silent_p.N716N			P57071	PRD15_HUMAN	PR domain containing 15	1045					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GGTCCGGCAGGTTTTCACGGT	0.592000													24	82					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88459044	88459044	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:88459044T>A	ENST00000372056.4	+	8	1133	c.1110T>A	c.(1108-1110)ttT>ttA	p.F370L	LDB3_ENST00000310944.6_Missense_Mutation_p.F302L|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000429277.2_Intron|LDB3_ENST00000372066.3_Missense_Mutation_p.F255L|LDB3_ENST00000458213.2_Intron	NM_001171611.1	NP_001165082.1	O75112	LDB3_HUMAN	LIM domain binding 3	0						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GGGAAAGGTTTGAAACGGAAC	0.478000													47	105					0	0	1	0	0
KATNAL2	83473	broad.mit.edu	37	18	44589437	44589437	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:44589437C>T	ENST00000245121.5	+	6	622	c.428C>T	c.(427-429)cCc>cTc	p.P143L	KATNAL2_ENST00000356157.7_Missense_Mutation_p.P215L|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	215						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AATCCAGACCCCTCAGTAAGT	0.438000													9	27					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5536874	5536874	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:5536874C>T	ENST00000380184.1	-	1	1061	c.798G>A	c.(796-798)ggG>ggA	p.G266G	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	266										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GGGCATTATTCCCACCTGGCA	0.458000													24	48					0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6512044	6512044	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:6512044C>T	ENST00000377828.1	+	10	2381	c.2213C>T	c.(2212-2214)gCt>gTt	p.A738V	ESPN_ENST00000461727.1_Missense_Mutation_p.A172V|ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000416731.1_Missense_Mutation_p.A172V	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	738					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GACGTGGAGGCTCTCATCCCC	0.662000													5	4					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89133409	89133409	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:89133409C>T	ENST00000535633.1	-	10	1223	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	NOX4_ENST00000527626.1_Missense_Mutation_p.E163K|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000542487.1_Missense_Mutation_p.E305K|NOX4_ENST00000532825.1_Missense_Mutation_p.E305K|NOX4_ENST00000528341.1_Missense_Mutation_p.E304K|NOX4_ENST00000534731.1_Missense_Mutation_p.E329K|NOX4_ENST00000424319.1_Missense_Mutation_p.E305K|NOX4_ENST00000343727.5_Missense_Mutation_p.E305K|NOX4_ENST00000527956.1_Missense_Mutation_p.E305K|NOX4_ENST00000263317.4_Missense_Mutation_p.E329K|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000413594.2_Missense_Mutation_p.E350K	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	329	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TTAAAATTTTCTTTGACCATT	0.393000													4	90					0	0	1	0	0
FBP2	8789	broad.mit.edu	37	9	97333856	97333856	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:97333856T>A	ENST00000375337.3	-	4	521	c.455A>T	c.(454-456)gAt>gTt	p.D152V		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	152					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				CTGCAGGGCATCCTTTTCAGA	0.557000													19	15					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71549017	71549017	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:71549017C>T	ENST00000355327.3	+	6	1112	c.978C>T	c.(976-978)ttC>ttT	p.F326F	THSD4_ENST00000261862.6_Silent_p.F326F			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	326						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACAAGCCATTCATGGGCCGGT	0.413000													41	87					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51913404	51913404	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:51913404C>T	ENST00000371117.3	-	23	2568	c.2293G>A	c.(2293-2295)Gaa>Aaa	p.E765K	PKHD1_ENST00000340994.4_Missense_Mutation_p.E765K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	765					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCTGTTCCTTCAGTGGGCACA	0.532000													30	65					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56114906	56114906	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:56114906A>T	ENST00000288221.6	-	7	1835	c.1580T>A	c.(1579-1581)aTt>aAt	p.I527N		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	527						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CATGTCACGAATTTCACCGGC	0.403000													11	18					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48677162	48677162	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:48677162C>T	ENST00000352832.5	+	16	3935	c.3563C>T	c.(3562-3564)gCc>gTc	p.A1188V	CACNA1G_ENST00000513689.2_Missense_Mutation_p.A1211V|CACNA1G_ENST00000416767.4_Missense_Mutation_p.A1211V|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A1188V|CACNA1G_ENST00000359106.5_Missense_Mutation_p.A1211V|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A1188V|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A1188V|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A1211V|CACNA1G_ENST00000503485.1_Missense_Mutation_p.A1211V|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A1188V|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A1211V|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A1211V|CACNA1G_ENST00000515411.1_Missense_Mutation_p.A1211V|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A1188V|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A1188V|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A1211V|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A1211V|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A1211V|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A1188V|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A1211V|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A1211V|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A1211V|CACNA1G_ENST00000514079.1_Missense_Mutation_p.A1211V|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A1211V|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A1211V|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A1211V	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1211					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGGCCCGGGCCCTGCGGCCT	0.677000													16	24					0	0	1	0	0
LCE3A	353142	broad.mit.edu	37	1	152595494	152595494	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:152595494G>A	ENST00000335674.1	-	1	85	c.86C>T	c.(85-87)tCc>tTc	p.S29F		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	29					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACAGCTGGAGGAAGCTGGAGG	0.652000													25	33					0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219610920	219610920	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:219610920C>G	ENST00000392102.1	+	8	2280	c.1940C>G	c.(1939-1941)tCt>tGt	p.S647C	TTLL4_ENST00000457313.1_Missense_Mutation_p.S482C|TTLL4_ENST00000442769.1_Missense_Mutation_p.S647C|TTLL4_ENST00000258398.4_Missense_Mutation_p.S647C	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	647	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CACATGAAGTCTCCTAGTTTC	0.537000													51	124					0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23191727	23191727	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:23191727G>A	ENST00000322231.7	+	8	1259	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	KLHL7_ENST00000542558.1_Missense_Mutation_p.E54K|KLHL7_ENST00000339077.4_Missense_Mutation_p.E279K|KLHL7_ENST00000545443.1_Missense_Mutation_p.E257K|KLHL7_ENST00000539124.1_Missense_Mutation_p.E203K|KLHL7_ENST00000409689.1_Missense_Mutation_p.E231K			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	279						Golgi apparatus|nucleolus|plasma membrane		p.E257K(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGACCGAGAAGAACTTGTAGA	0.433000													13	29					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52258406	52258406	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:52258406G>A	ENST00000356297.4	-	20	4103	c.4003C>T	c.(4003-4005)Cat>Tat	p.H1335Y	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1335					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)				CTTCTTAGATGACTTAACTCC	0.353000													5	28					0	0	1	0	0
CDC14A	8556	broad.mit.edu	37	1	100964712	100964712	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:100964712C>T	ENST00000336454.3	+	15	2004	c.1649C>T	c.(1648-1650)cCc>cTc	p.P550L	CDC14A_ENST00000542213.1_Missense_Mutation_p.P492L|CDC14A_ENST00000544534.1_Missense_Mutation_p.P550L|CDC14A_ENST00000361544.6_Missense_Mutation_p.P550L|CDC14A_ENST00000370125.2_3'UTR	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	550					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.P550F(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CTGAACAGCCCCCCAGGCCCC	0.557000													22	16					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11761070	11761070	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:11761070C>T	ENST00000381486.2	+	23	4384	c.4084C>T	c.(4084-4086)Ctg>Ttg	p.L1362L	GREB1_ENST00000234142.5_Silent_p.L1362L|GREB1_ENST00000396123.1_Silent_p.L360L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1362						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCTCAGTGTCCTGTCCAGGAT	0.532000													30	79					0	0	1	0	0
MIP	4284	broad.mit.edu	37	12	56848172	56848172	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:56848172G>A	ENST00000257979.4	-	1	254	c.226C>T	c.(226-228)Ctt>Ttt	p.L76F	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	76					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GAGCCCACAAGGAAAGCAAAA	0.602000													39	39					0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159683618	159683618	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:159683618G>A	ENST00000255030.5	-	2	475	c.372C>T	c.(370-372)atC>atT	p.I124I	CRP_ENST00000343919.2_Intron|CRP_ENST00000437342.1_5'UTR|CRP_ENST00000368112.1_Intron|CRP_ENST00000368111.1_Intron|CRP_ENST00000368110.1_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	124	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	AGAACTCCACGATCCCTGAGG	0.522000													70	140					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24326280	24326280	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:24326280G>A	ENST00000175238.6	+	7	663	c.579_splice	c.e7-1	p.G194_splice	RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Splice_Site_p.G194_splice|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	194					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AACTTTACAGGGCATCCATGA	0.313000													13	25					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220344	130220344	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:130220344G>A	ENST00000276211.5	+	10	1668	c.1323G>A	c.(1321-1323)tgG>tgA	p.W441*	ARHGAP36_ENST00000370921.1_Nonsense_Mutation_p.W305*|ARHGAP36_ENST00000370922.1_Nonsense_Mutation_p.W429*	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	441					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						AGCGCGTGTGGAAGTCCAGCC	0.458000													30	44					0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11446427	11446427	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:11446427G>A	ENST00000222120.3	-	3	521	c.261C>T	c.(259-261)atC>atT	p.I87I	RAB3D_ENST00000589655.1_Silent_p.I87I	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	87					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						AGGCCGTGGTGATGGTGCGGT	0.597000													55	109					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7765505	7765505	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:7765505C>T	ENST00000358415.4	+	9	1125	c.959C>T	c.(958-960)tCc>tTc	p.S320F	ITIH2_ENST00000379587.4_Missense_Mutation_p.S309F	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	320	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTGAGTGGCTCCATGTGGGGA	0.423000													24	40					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71015453	71015453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:71015453G>A	ENST00000393567.2	-	29	4501	c.4351C>T	c.(4351-4353)Caa>Taa	p.Q1451*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1451										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACCTGCTCTTGATGTGAACTG	0.408000													22	59					0	0	1	0	0
HSF1	3297	broad.mit.edu	37	8	145533234	145533234	+	Missense_Mutation	SNP	G	G	A	rs149839114		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:145533234G>A	ENST00000528838.1	+	3	480	c.320G>A	c.(319-321)gGc>gAc	p.G107D	HSF1_ENST00000400780.4_Missense_Mutation_p.G42D	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	107						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TTCCTGCGTGGCCAGGAGCAG	0.627000													27	51					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50209151	50209151	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:50209151C>T	ENST00000284509.6	-	20	2262	c.2121G>A	c.(2119-2121)gtG>gtA	p.V707V	ATP8B4_ENST00000559829.1_Silent_p.V707V	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	707					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTCTCACTTCCACAGCATTAT	0.438000													21	44					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26792174	26792174	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:26792174G>A	ENST00000376236.4	+	6	957	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	168					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GCTGGCGCTGGAAAAACTGAA	0.408000													22	42					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5939642	5939642	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:5939642C>T	ENST00000327087.8	-	6	858	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	ANO2_ENST00000356134.5_Missense_Mutation_p.E264K|ANO2_ENST00000546188.1_Missense_Mutation_p.E264K			Q9NQ90	ANO2_HUMAN	anoctamin 2	268						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GTGTCCTTTTCCTGGATGTTG	0.478000													10	17					0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156281378	156281378	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:156281378G>A	ENST00000311277.4	-	7	1255	c.992C>T	c.(991-993)cCa>cTa	p.P331L	AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.P307L|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000594492.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	331					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AGATAGTAGTGGATCAACTGT	0.363000													11	25					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8176593	8176593	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:8176593G>A	ENST00000600128.1	-	32	4437	c.4023C>T	c.(4021-4023)gtC>gtT	p.V1341V	FBN3_ENST00000601739.1_Silent_p.V1341V|FBN3_ENST00000270509.2_Silent_p.V1341V			Q75N90	FBN3_HUMAN	fibrillin 3	1341	EGF-like 20; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGAGCCAGGGACATTGAGAC	0.642000													14	39					0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39876020	39876020	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:39876020G>A	ENST00000303538.8	-	20	2705	c.2166C>T	c.(2164-2166)ccC>ccT	p.P722P		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	722					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GATGTAAAATGGGAATTAAGG	0.378000													12	20					0	0	1	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65214141	65214141	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:65214141C>T	ENST00000319580.8	+	2	66	c.56C>T	c.(55-57)cCt>cTt	p.P19L	ANKDD1A_ENST00000395723.1_Silent_p.L6L|ANKDD1A_ENST00000380230.3_Silent_p.L97L|ANKDD1A_ENST00000395720.1_Silent_p.L97L|ANKDD1A_ENST00000357698.3_Silent_p.L97L|AC069368.3_ENST00000437723.1_Silent_p.L169L|ANKDD1A_ENST00000496660.1_Silent_p.L6L|ANKDD1A_ENST00000491145.1_3'UTR			Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	0					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						TGCGCTTCTCCTGTCTGCCTG	0.557000													11	20					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141738391	141738391	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:141738391C>T	ENST00000475668.2	+	19	2346	c.2292C>T	c.(2290-2292)ctC>ctT	p.L764L	MGAM_ENST00000549489.2_Silent_p.L764L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	764	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.L764L(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGCCCGGCCTCCTCATCACTC	0.498000													4	11					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111427899	111427899	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:111427899C>T	ENST00000265162.5	+	4	1367	c.1025C>T	c.(1024-1026)tCt>tTt	p.S342F		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	342					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ATGAATTATTCTCTTCCTAAA	0.289000													9	6					0	0	1	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768817	31768817	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:31768817C>T	ENST00000355459.2	+	1	426	c.413C>T	c.(412-414)cCt>cTt	p.P138L		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	138						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTGGCTTCCCTTCCCTGGGC	0.582000													18	27					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91714954	91714954	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:91714954C>T	ENST00000359028.2	+	36	9215	c.8990C>T	c.(8989-8991)tCt>tTt	p.S2997F	AKAP9_ENST00000358100.2_Missense_Mutation_p.S2943F|AKAP9_ENST00000356239.3_Missense_Mutation_p.S2993F			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2997					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAATCTCATCTCTAAAGGAT	0.353000			T	BRAF	papillary thyroid								4	11					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240130	3240130	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:3240130G>A	ENST00000217939.6	-	5	3750	c.3596C>T	c.(3595-3597)tCt>tTt	p.S1199F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1199						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)				AGGAACCAGAGAACTCTCCAC	0.463000													27	45					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135743692	135743692	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:135743692G>A	ENST00000375845.3	-	7	2780	c.2750C>T	c.(2749-2751)tCc>tTc	p.S917F	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.S934F|MAP3K19_ENST00000358371.4_Missense_Mutation_p.S804F|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		ATATGTCTGGGAAGATGCACT	0.318000													9	10					0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51475776	51475776	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:51475776G>A	ENST00000335891.5	-	6	660	c.651C>T	c.(649-651)gaC>gaT	p.D217D				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	217					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGTCACCATAGTCCATATCCA	0.502000													68	149					0	0	1	0	0
TMEM258	746	broad.mit.edu	37	11	61557337	61557337	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:61557337G>A	ENST00000543510.1	-	3	1506	c.155C>T	c.(154-156)tCc>tTc	p.S52F	TMEM258_ENST00000535042.1_5'UTR|TMEM258_ENST00000537328.1_Missense_Mutation_p.S57F					transmembrane protein 258																		GGCCACTAAGGAGATGAGGAG	0.527000													7	14					0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114304771	114304771	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:114304771G>A	ENST00000309235.5	+	6	1714	c.1556G>A	c.(1555-1557)gGa>gAa	p.G519E	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	519					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						ATTCATACTGGAGAAAAACCT	0.388000													18	21					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74276060	74276060	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:74276060C>T	ENST00000295897.4	+	6	736	c.647C>T	c.(646-648)tCg>tTg	p.S216L	ALB_ENST00000415165.2_Intron|ALB_ENST00000401494.3_Missense_Mutation_p.S101L|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Missense_Mutation_p.S66L|ALB_ENST00000509063.1_Missense_Mutation_p.S216L	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	216	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GGGAAGGCTTCGTCTGCCAAA	0.373000													9	38					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70918050	70918050	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:70918050C>T	ENST00000264436.3	-	8	1161	c.717G>A	c.(715-717)atG>atA	p.M239I	ADD2_ENST00000430656.1_Missense_Mutation_p.M255I|AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000413157.2_Missense_Mutation_p.M239I|ADD2_ENST00000407644.2_Missense_Mutation_p.M239I|ADD2_ENST00000355733.3_Missense_Mutation_p.M239I	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	239					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGCCCCACTTCATGGCCGACA	0.582000													21	46					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	7002915	7002915	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:7002915C>T	ENST00000409757.4	+	7	1331	c.1207C>T	c.(1207-1209)Cct>Tct	p.P403S	TBC1D14_ENST00000451522.2_Missense_Mutation_p.P123S|TBC1D14_ENST00000448507.1_Missense_Mutation_p.P403S|TBC1D14_ENST00000410031.1_Missense_Mutation_p.P175S|TBC1D14_ENST00000446947.2_Missense_Mutation_p.P16S	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	403	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GCAGGGAATCCCTCCAAGTGT	0.488000													6	31					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313481	54313481	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:54313481C>T	ENST00000324134.6	-	3	1600	c.1432G>A	c.(1432-1434)Gag>Aag	p.E478K	NLRP12_ENST00000391773.1_Missense_Mutation_p.E478K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E478K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E478K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E478K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E478K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E478K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E478K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	478	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGGTCCTGCTCCTCAAATAGG	0.587000													38	70					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17744871	17744871	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:17744871C>A	ENST00000380060.3	+	6	2920	c.2582C>A	c.(2581-2583)cCt>cAt	p.P861H	NHS_ENST00000398097.3_Missense_Mutation_p.P705H	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	861						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGCACCTGCCTCACAGTTCC	0.483000													55	65					8.28887e-21	8.54456e-21	1	1	0
PIP4K2B	8396	broad.mit.edu	37	17	36935647	36935647	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:36935647A>G	ENST00000269554.3	-	5	1123	c.643T>C	c.(643-645)Tat>Cat	p.Y215H	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	215	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TTGAGGTCATACTTGCGATGC	0.552000													58	87					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42931036	42931036	+	Missense_Mutation	SNP	G	G	A	rs138280510		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:42931036G>A	ENST00000244289.4	-	1	542	c.266C>T	c.(265-267)gCc>gTc	p.A89V	LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	89					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CTTCTGTGGGGCAAGAAATTC	0.537000													68	140					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49640091	49640091	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:49640091C>T	ENST00000334186.4	+	15	2125	c.1776C>T	c.(1774-1776)tcC>tcT	p.S592S	PPFIA3_ENST00000602351.1_Silent_p.S592S	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	592						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		AGCTGCTGTCCCCCAGTGGGC	0.667000													5	5					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56544059	56544059	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:56544059G>A	ENST00000390649.3	+	8	2359	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	787						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCGGCAGCTGGACCTGGGCAG	0.592000													31	59					0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	803399	803399	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:803399C>T	ENST00000347755.5	-	3	625	c.484G>A	c.(484-486)Gag>Aag	p.E162K	PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Missense_Mutation_p.E162K	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	162					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										TCAGGCAGCTCAGAGAGGCAG	0.652000													39	64					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30681431	30681431	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:30681431G>A	ENST00000376406.3	-	4	1228	c.581C>T	c.(580-582)cCa>cTa	p.P194L	MDC1_ENST00000376405.2_Missense_Mutation_p.P194L	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	194	Interaction with the MRN complex.|Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TCACCTCTCTGGAACTATCAC	0.413000								Other conserved DNA damage response genes					29	22					0	0	1	0	0
SRC	6714	broad.mit.edu	37	20	36012616	36012616	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:36012616C>T	ENST00000373578.2	+	4	409	c.60C>T	c.(58-60)ccC>ccT	p.P20P	SRC_ENST00000360723.4_Silent_p.P20P|SRC_ENST00000373558.2_Silent_p.P20P|SRC_ENST00000373567.2_Silent_p.P20P|SRC_ENST00000358208.4_Silent_p.P20P|SRC_ENST00000445403.1_Silent_p.P20P	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	20					axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	GCCTGGAGCCCGCCGAGAACG	0.716000													21	36					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12940158	12940158	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:12940158C>T	ENST00000218032.6	+	2	3086	c.2999C>T	c.(2998-3000)tCc>tTc	p.S1000F	TLR8_ENST00000311912.5_Missense_Mutation_p.S1018F	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	1000	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTAAGAGCTCCATCCTCCAG	0.448000													27	68					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145838586	145838586	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:145838586C>T	ENST00000296702.5	+	4	616	c.578C>T	c.(577-579)gCc>gTc	p.A193V	TCERG1_ENST00000394421.2_Missense_Mutation_p.A193V	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	193	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			caggctcaggcccaggcgcag	0.657000													17	41					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72190946	72190946	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:72190946G>A	ENST00000356056.5	-	25	4370	c.3898C>T	c.(3898-3900)Cct>Tct	p.P1300S	MYO9A_ENST00000444904.1_Missense_Mutation_p.P1281S|MYO9A_ENST00000566885.1_Missense_Mutation_p.P920S|MYO9A_ENST00000564571.1_Missense_Mutation_p.P1300S|MYO9A_ENST00000424560.1_Missense_Mutation_p.P1300S|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1300	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCTCTGAAGGAGAAATACCA	0.468000													32	47					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088326	9088326	+	Silent	SNP	G	G	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:9088326G>T	ENST00000397910.4	-	1	3692	c.3489C>A	c.(3487-3489)ccC>ccA	p.P1163P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1163	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						TTGTGACTTTGGGAGTAGGAG	0.483000													20	48					5.26018e-13	5.38782e-13	1	1	0
NPEPL1	79716	broad.mit.edu	37	20	57290282	57290282	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:57290282C>T	ENST00000356091.6	+	12	1760	c.1472C>T	c.(1471-1473)tCt>tTt	p.S491F	STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Missense_Mutation_p.S463F|NPEPL1_ENST00000525817.1_Missense_Mutation_p.S443F	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	491					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			GGCCGTGCCTCTGAGGACCCT	0.657000													9	13					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	46					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63174006	63174006	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:63174006C>T	ENST00000279178.3	+	7	1360	c.1111C>T	c.(1111-1113)Cat>Tat	p.H371Y	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	371					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CCTTAATCTCCATGTCCAGCA	0.418000													21	63					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88704978	88704978	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:88704978C>T	ENST00000372027.4	-	4	521	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	150						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TCCTGAGGTTCCTGGTGGCTG	0.562000													16	27					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196825468	196825468	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:196825468A>G	ENST00000312428.6	-	18	2507	c.2407T>C	c.(2407-2409)Tac>Cac	p.Y803H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	803	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCTCTCCAGTAATTTCCAATA	0.368000													48	101					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75601092	75601092	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:75601092C>T	ENST00000549446.1	-	2	1352	c.672G>A	c.(670-672)tcG>tcA	p.S224S	KCNC2_ENST00000393288.2_Silent_p.S224S|KCNC2_ENST00000350228.2_Silent_p.S224S|KCNC2_ENST00000298972.1_Silent_p.S224S|KCNC2_ENST00000548513.1_Silent_p.S224S|KCNC2_ENST00000341669.3_Silent_p.S224S|KCNC2_ENST00000540018.1_Silent_p.S224S|KCNC2_ENST00000550433.1_Silent_p.S224S	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	224					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CGGCTCTGGACGAGTAGGGGT	0.657000													3	4					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67665766	67665766	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:67665766C>T	ENST00000335894.4	+	10	1433	c.1367C>T	c.(1366-1368)tCa>tTa	p.S456L	IQCH_ENST00000360277.4_Missense_Mutation_p.S208L|IQCH_ENST00000358767.3_Missense_Mutation_p.S283L|IQCH_ENST00000546225.1_Missense_Mutation_p.S204L	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	456										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CATATCCCATCATTAGGTATA	0.433000													23	43					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326279	57326279	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:57326279G>A	ENST00000326441.9	-	10	3894	c.3531C>T	c.(3529-3531)ttC>ttT	p.F1177F	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Silent_p.F1177F|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.F1051F|PEG3_ENST00000598410.1_Silent_p.F1053F|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1177					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCTCGAAAAGGAATGAGCTAT	0.443000													40	85					0	0	1	0	0
ABHD12	26090	broad.mit.edu	37	20	25319919	25319919	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:25319919G>A	ENST00000339157.5	-	2	532	c.260C>T	c.(259-261)cCa>cTa	p.P87L	ABHD12_ENST00000376542.3_Missense_Mutation_p.P87L	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	87						integral to membrane	acylglycerol lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						GATGAGAAATGGAATGGCAAT	0.408000													22	17					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857878	9857878	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:9857878C>T	ENST00000396573.2	-	14	3832	c.3523G>A	c.(3523-3525)Gaa>Aaa	p.E1175K	GRIN2A_ENST00000404927.2_Missense_Mutation_p.E1175K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E1018K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E1175K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E1175K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E1175K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1175					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	p.E1175K(1)		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)	AGCCCCTCTTCATTATGCAAG	0.557000													86	181					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152303088	152303088	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:152303088C>T	ENST00000243326.4	+	19	2726	c.2244_splice	c.e19+1	p.S748_splice	RIF1_ENST00000453091.2_Splice_Site_p.S748_splice|RIF1_ENST00000444746.2_Splice_Site_p.S748_splice|RIF1_ENST00000428287.2_Splice_Site_p.S748_splice|RIF1_ENST00000430328.2_Splice_Site_p.S748_splice			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	748					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GAAGGCTTTTCTGTGAGTTTG	0.388000													24	72					0	0	1	0	0
FFAR4	338557	broad.mit.edu	37	10	95347040	95347040	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:95347040C>T	ENST00000371483.4	+	4	864	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	FFAR4_ENST00000604414.1_Intron|FFAR4_ENST00000371481.4_Missense_Mutation_p.R254C	NM_181745.3	NP_859529.2			free fatty acid receptor 4																		CCACCAGATCCGCGTGTCCCA	0.557000													24	44					0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120221824	120221824	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:120221824G>A	ENST00000019103.5	-	6	778	c.511C>T	c.(511-513)Cac>Tac	p.H171Y		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	171					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CGAGTGCAGTGGAGCCTCCTG	0.582000													9	15					0	0	1	0	0
CD151	977	broad.mit.edu	37	11	837513	837513	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:837513C>T	ENST00000397420.3	+	7	759	c.510C>T	c.(508-510)atC>atT	p.I170I	CD151_ENST00000397421.1_Silent_p.I170I|CD151_ENST00000322008.4_Silent_p.I170I|CD151_ENST00000528011.1_Silent_p.I170I			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	170					cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGAGTGGATCCGCTCACAGG	0.607000													12	21					0	0	1	0	0
TAOK1	57551	broad.mit.edu	37	17	27816699	27816699	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:27816699T>A	ENST00000261716.3	+	9	1192	c.673T>A	c.(673-675)Tta>Ata	p.L225I	TAOK1_ENST00000536202.1_Missense_Mutation_p.L225I	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	225	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GAAGCCTCCTTTATTTAATAT	0.348000													20	51					0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128247517	128247517	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:128247517C>A	ENST00000295321.4	-	11	2309	c.2050G>T	c.(2050-2052)Gag>Tag	p.E684*	AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	684	TFIIS N-terminal.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTAGACCACTCATCTGTAGTA	0.368000													51	86					8.00217e-19	8.22787e-19	1	1	0
SEMA4F	10505	broad.mit.edu	37	2	74906936	74906936	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:74906936T>G	ENST00000357877.2	+	14	2062	c.1913T>G	c.(1912-1914)gTg>gGg	p.V638G	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.V483G	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	638					cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GCAGCCCATGTGGTAGCAGCT	0.652000													6	104					0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	39994500	39994500	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:39994500G>A	ENST00000308666.3	-	6	1654	c.1519C>T	c.(1519-1521)Ctt>Ttt	p.L507F		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	507	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GTTATCAAAAGATGCATTCCT	0.348000													8	86					0	0	1	0	0
IGKV6D-41	28869	broad.mit.edu	37	2	90108975	90108975	+	RNA	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:90108975G>A	ENST00000390271.2	+	0	266																											GGGTCCCCTCGAGGTTCAGTG	0.498000													29	47					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372725	24372725	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:24372725C>T	ENST00000005284.3	+	4	1691	c.489C>T	c.(487-489)gaC>gaT	p.D163D		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	163					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ACGCCGGAGACCCCGGGCAGC	0.458000													54	102					0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654961	31654961	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:31654961G>A	ENST00000340345.4	-	1	315	c.290C>T	c.(289-291)tCc>tTc	p.S97F		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	97						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						TGCTGATGGGGAGTTGCAGGG	0.562000													24	34					0	0	1	0	0
H2AFY2	55506	broad.mit.edu	37	10	71871413	71871413	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:71871413G>A	ENST00000373255.4	+	9	1357	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	365	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CTACGTGCAGGAGATGGCCAA	0.567000													12	25					0	0	1	0	0
ADORA2A	135	broad.mit.edu	37	22	24829621	24829621	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:24829621C>T	ENST00000337539.7	+	2	708	c.249C>T	c.(247-249)ttC>ttT	p.F83F	ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	83					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TTGCCTGCTTCGTCCTGGTCC	0.642000													24	90					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963486	88963486	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:88963486G>A	ENST00000333190.4	+	4	1799	c.1190G>A	c.(1189-1191)aGt>aAt	p.S397N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	397						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAACAAAAGAGTACAGTGCAT	0.368000										HNSCC(36;0.09)			15	23					0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5461959	5461959	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:5461959C>T	ENST00000380211.1	-	1	785	c.786G>A	c.(784-786)atG>atA	p.M262I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCGGTGAATCATGGAGACAG	0.483000													26	47					0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207527733	207527733	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:207527733C>T	ENST00000452335.2	-	11	1643	c.1527G>A	c.(1525-1527)aaG>aaA	p.K509K		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	509						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CTGCCTCTTTCTTTTCCACGG	0.478000													29	70					0	0	1	0	0
IGHV5-51	28388	broad.mit.edu	37	14	107035167	107035167	+	RNA	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:107035167G>A	ENST00000390626.2	-	0	54																											CCCCATGATGGTGGAGGACAG	0.607000													6	6					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68849478	68849478	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:68849478C>T	ENST00000261769.5	+	10	1572	c.1381C>T	c.(1381-1383)Cct>Tct	p.P461S	CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Missense_Mutation_p.P400S	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	461	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.G441_E463del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAATGTGGTACCTTTTGAGGT	0.483000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				22	40					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34927067	34927067	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:34927067C>T	ENST00000356577.4	+	3	6005	c.5530C>T	c.(5530-5532)Cgt>Tgt	p.R1844C	SON_ENST00000300278.4_Missense_Mutation_p.R1844C|SON_ENST00000381679.4_Missense_Mutation_p.R1844C|SON_ENST00000290239.6_Missense_Mutation_p.R1844C|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1844					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CAGTGAATCTCGTTCTAGGGC	0.458000													20	41					0	0	1	0	0
GPRC5D	55507	broad.mit.edu	37	12	13102842	13102842	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:13102842C>T	ENST00000228887.1	-	1	476	c.477G>A	c.(475-477)gtG>gtA	p.V159V	RP11-392P7.6_ENST00000543515.2_RNA|GPRC5D_ENST00000396333.3_Silent_p.V159V|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000540198.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5, member D	159						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GTGTCATATTCACAAACATCA	0.458000													35	31					0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220159702	220159702	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:220159702G>A	ENST00000295718.2	-	19	2910	c.2670C>T	c.(2668-2670)ttC>ttT	p.F890F	PTPRN_ENST00000497977.1_5'UTR|PTPRN_ENST00000409251.3_Silent_p.F861F|PTPRN_ENST00000423636.2_Silent_p.F800F	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	890	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CTCACCTGCGGAAGTCCAGCA	0.766000													3	9					0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3493353	3493353	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:3493353G>A	ENST00000174621.6	-	5	1075	c.786C>T	c.(784-786)atC>atT	p.I262I	SHPK_ENST00000572705.1_Silent_p.I264I|TRPV1_ENST00000310522.5_Silent_p.I264I|TRPV1_ENST00000399759.3_Silent_p.I264I|TRPV1_ENST00000425167.2_Silent_p.I264I|TRPV1_ENST00000576351.1_Silent_p.I264I|TRPV1_ENST00000571088.1_Silent_p.I264I|TRPV1_ENST00000399756.4_Silent_p.I264I			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	264					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GGAACTTCACGATGCCCAGCT	0.662000													4	8					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898140	175898140	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:175898140G>A	ENST00000359240.3	+	5	2134	c.1464G>A	c.(1462-1464)aaG>aaA	p.K488K	ADAM29_ENST00000445694.1_Silent_p.K488K|ADAM29_ENST00000514159.1_Silent_p.K488K|ADAM29_ENST00000404450.4_Silent_p.K488K	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	488	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTCCCTGTAAGGAGAGGGGCT	0.458000													24	74					0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42843805	42843805	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:42843805G>A	ENST00000398585.3	-	10	1174	c.1114C>T	c.(1114-1116)Cca>Tca	p.P372S	TMPRSS2_ENST00000332149.5_Missense_Mutation_p.P335S|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.P335S	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	335	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TCATAATTTGGATGAGAAATC	0.453000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								17	57					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24787976	24787976	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:24787976G>A	ENST00000310677.4	-	25	3078	c.2965C>T	c.(2965-2967)Cat>Tat	p.H989Y	ADCY4_ENST00000418030.2_Missense_Mutation_p.H989Y|ADCY4_ENST00000554068.2_Missense_Mutation_p.H989Y	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	989					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|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ACGGGTCCATGGTTCAACCCT	0.542000													37	82					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135809486	135809486	+	Silent	SNP	A	A	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:135809486A>G	ENST00000264977.3	+	10	3521	c.2904A>G	c.(2902-2904)gaA>gaG	p.E968E	PPP2R3A_ENST00000334546.2_Silent_p.E347E|PPP2R3A_ENST00000490467.1_Silent_p.E232E	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	968					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGATCTCTGAAGAAGACAAAA	0.343000													16	24					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25380278	25380278	+	Silent	SNP	A	A	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:25380278A>C	ENST00000311936.3	-	3	371	c.180T>G	c.(178-180)ggT>ggG	p.G60G	KRAS_ENST00000256078.4_Silent_p.G60G|KRAS_ENST00000557334.1_Intron	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	60			G -> R (in CFC syndrome; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors).|G -> S (in NS3).		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.Q61K(6)|p.G60G(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)			ACTCCTCTTGACCTGCTGTGT	0.413000		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			40	37					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46825046	46825046	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:46825046C>T	ENST00000339613.2	+	10	1245	c.990C>T	c.(988-990)ccC>ccT	p.P330P	AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Silent_p.P317P|HIF3A_ENST00000600383.1_Silent_p.P317P|HIF3A_ENST00000472815.1_Silent_p.P317P|HIF3A_ENST00000420102.2_Silent_p.P335P|HIF3A_ENST00000377670.4_Silent_p.P386P|HIF3A_ENST00000300862.3_Silent_p.P384P			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCCCTGGCCCCCGGATCCTTG	0.682000													72	108					0	0	1	0	0
ODAM	54959	broad.mit.edu	37	4	71067175	71067175	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:71067175C>T	ENST00000396094.2	+	7	581	c.533C>T	c.(532-534)cCa>cTa	p.P178L		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	178	Gln-rich.				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TGACAGATACCATTCTATGCT	0.254000													4	7					0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138517973	138517973	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:138517973C>T	ENST00000371763.1	-	4	452	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	67					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TAATGTTTTTCCAGGACCCGC	0.488000													33	46					0	0	1	0	0
SERP1	27230	broad.mit.edu	37	3	150263527	150263527	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:150263527C>T	ENST00000479209.1	-	3	1395	c.123G>A	c.(121-123)tgG>tgA	p.W41*	SERP1_ENST00000487153.1_Intron|SERP1_ENST00000239944.2_Nonsense_Mutation_p.W41*|SERP1_ENST00000491660.1_Nonsense_Mutation_p.W41*			Q9Y6X1	SERP1_HUMAN	stress-associated endoplasmic reticulum protein 1	41					plasma membrane organization|protein glycosylation|protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane|ribosome				large_intestine(1)|lung(3)	4			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GAGCCAATAACCAGGGTCCTA	0.517000													4	6					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32480541	32480541	+	Silent	SNP	C	C	T	rs148824104		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:32480541C>T	ENST00000266088.4	+	8	1030	c.780C>T	c.(778-780)gcC>gcT	p.A260A	SLC5A1_ENST00000543737.1_Silent_p.A133A	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	260					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						CTCCAAGGGCCGACTCCTTCC	0.517000													7	43					0	0	1	0	0
CD244	51744	broad.mit.edu	37	1	160811413	160811413	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:160811413C>T	ENST00000368034.4	-	2	517	c.340G>A	c.(340-342)Gga>Aga	p.G114R	CD244_ENST00000322302.7_Missense_Mutation_p.G114R|CD244_ENST00000368033.3_Missense_Mutation_p.G114R|CD244_ENST00000368032.2_Missense_Mutation_p.G114R	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	114	Ig-like 1.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGAACTTTTCCAGATATACTG	0.453000													16	26					0	0	1	0	0
ETFA	2108	broad.mit.edu	37	15	76588000	76588000	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:76588000T>C	ENST00000557943.1	-	2	198	c.118A>G	c.(118-120)Acc>Gcc	p.T40A	ETFA_ENST00000559602.1_Intron|ETFA_ENST00000560726.1_Intron|ETFA_ENST00000433983.2_Intron	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	40					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						GCAGTAATGGTATTTAAAGTA	0.423000													6	53					0	0	1	0	0
TMEM259	91304	broad.mit.edu	37	19	1014471	1014471	+	Splice_Site	SNP	G	G	A	rs36113929		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:1014471G>A	ENST00000356663.3	-	2	348	c.225_splice	c.e2-1	p.A76_splice	TMEM259_ENST00000333175.5_Splice_Site_p.A76_splice	NM_001033026.1	NP_001028198.1			transmembrane protein 259																		CACAAACAGGGCCTAGGGGGC	0.687000													15	23					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33769049	33769049	+	Missense_Mutation	SNP	G	G	T	rs147071578		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:33769049G>T	ENST00000285013.6	-	5	1730	c.1455C>A	c.(1453-1455)gaC>gaA	p.D485E	SLFN13_ENST00000360502.2_Missense_Mutation_p.D167E|SLFN13_ENST00000533791.1_Missense_Mutation_p.D485E|SLFN13_ENST00000534689.1_Missense_Mutation_p.D167E|SLFN13_ENST00000542635.1_Missense_Mutation_p.D485E|SLFN13_ENST00000526861.1_Missense_Mutation_p.D485E	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	485						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAGTGCAGTAGTCCTGGCCCT	0.562000													8	93					2.27111e-07	2.30561e-07	1	1	0
HPS4	89781	broad.mit.edu	37	22	26860145	26860145	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:26860145G>A	ENST00000398145.2	-	11	2067	c.1451C>T	c.(1450-1452)cCc>cTc	p.P484L	HPS4_ENST00000402105.3_Missense_Mutation_p.P479L|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000336873.5_Missense_Mutation_p.P484L|HPS4_ENST00000398141.1_Missense_Mutation_p.P497L	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	484					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TTCCCCCGTGGGAAGCTTGTT	0.582000									Hermansky-Pudlak syndrome				69	213					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001830	177001830	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:177001830G>A	ENST00000367654.2	-	3	640	c.627C>T	c.(625-627)atC>atT	p.I209I	ASTN1_ENST00000424564.2_Silent_p.I209I|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.I209I|ASTN1_ENST00000367657.3_Silent_p.I209I			O14525	ASTN1_HUMAN	astrotactin 1	209					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CGTGCCCGCCGATCAGCACAG	0.652000													31	26					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121058694	121058694	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:121058694C>T	ENST00000392793.1	+	21	6424	c.6153C>T	c.(6151-6153)tcC>tcT	p.S2051S	TECTA_ENST00000264037.2_Silent_p.S2051S			O75443	TECTA_HUMAN	tectorin alpha	2051	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AAAAGTACTCCTGTAAAATCG	0.458000													21	61					0	0	1	0	0
AARS	16	broad.mit.edu	37	16	70305756	70305756	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:70305756G>A	ENST00000261772.8	-	5	742	c.599C>T	c.(598-600)gCc>gTc	p.A200V		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	200					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	AAGATGTGCGGCGTCCCGACC	0.542000													21	56					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407986	105407986	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:105407986G>A	ENST00000333244.5	-	7	13921	c.13802C>T	c.(13801-13803)cCa>cTa	p.P4601L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4601						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATGGATCCTGGGGCCTGGAC	0.612000													17	94					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216074149	216074149	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:216074149G>A	ENST00000366943.2	-	39	7785	c.7399C>T	c.(7399-7401)Ccc>Tcc	p.P2467S	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.P2467S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2467	Fibronectin type-III 11.				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)		TGGTATCTGGGAGAGCCAGGA	0.507000										HNSCC(13;0.011)			18	50					0	0	1	0	0
RUFY3	22902	broad.mit.edu	37	4	71628238	71628238	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:71628238C>T	ENST00000226328.4	+	2	744	c.181C>T	c.(181-183)Cct>Tct	p.P61S	RUFY3_ENST00000536664.1_Missense_Mutation_p.P45S|RUFY3_ENST00000502653.1_Missense_Mutation_p.P8S|RUFY3_ENST00000417478.2_Missense_Mutation_p.P121S|RUFY3_ENST00000381006.3_Missense_Mutation_p.P61S	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	61					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			GGCTGCAGATCCTAATTATCT	0.423000													25	237					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56611435	56611435	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:56611435C>T	ENST00000407595.2	+	6	2109	c.1607C>T	c.(1606-1608)tCg>tTg	p.S536L	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	536										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCTGCAGGTTCGTGTCCTGGA	0.408000													29	40					0	0	1	0	0
CTXN3	613212	broad.mit.edu	37	5	126993252	126993252	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:126993252C>T	ENST00000379445.3	+	3	590	c.39C>T	c.(37-39)ccC>ccT	p.P13P	CTXN3_ENST00000395322.3_Silent_p.P13P|CTC-548H10.2_ENST00000512352.1_RNA	NM_001048252.2	NP_001041717.1	Q4LDR2	CTXN3_HUMAN	cortexin 3	13						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		CCCTAGTGCCCCTTGGGAACG	0.473000													22	32					0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25341653	25341653	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:25341653C>T	ENST00000330560.3	+	10	1769	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.S416F	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	431					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GGTCTCAGTTCCCTGCTGCTT	0.448000													38	68					0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144109959	144109959	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:144109959G>A	ENST00000427704.2	+	11	1854	c.1724G>A	c.(1723-1725)cGa>cAa	p.R575Q	PHACTR2_ENST00000367584.4_Missense_Mutation_p.R563Q|PHACTR2_ENST00000305766.6_Missense_Mutation_p.R495Q|PHACTR2_ENST00000440869.2_Missense_Mutation_p.R586Q|PHACTR2_ENST00000367582.3_Missense_Mutation_p.R506Q	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	575							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AGGATCCTGCGATTTAACGAG	0.527000													17	17					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99969334	99969334	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:99969334A>T	ENST00000298999.3	+	5	1766	c.1463A>T	c.(1462-1464)gAc>gTc	p.D488V	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.D488V|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		ACTTTTTTGGACTCTGAACTC	0.398000													17	41					0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7950363	7950363	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:7950363G>A	ENST00000380183.4	+	10	1565	c.1426G>A	c.(1426-1428)Gat>Aat	p.D476N	ALOX15B_ENST00000573359.1_Missense_Mutation_p.D447N|ALOX15B_ENST00000572022.1_Missense_Mutation_p.D476N|ALOX15B_ENST00000380173.2_Missense_Mutation_p.D447N	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	476	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CTACCGTGATGATGGGATGCA	0.582000													10	32					0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156763240	156763240	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:156763240A>G	ENST00000470811.1	+	14	2203	c.868A>G	c.(868-870)Agt>Ggt	p.S290G	LEKR1_ENST00000356539.4_Missense_Mutation_p.S594G			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	109										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GCTTCGTGGAAGTTTACCATT	0.512000													22	58					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212543850	212543850	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:212543850G>C	ENST00000342788.4	-	13	1859	c.1549C>G	c.(1549-1551)Cca>Gca	p.P517A	ERBB4_ENST00000402597.1_Missense_Mutation_p.P517A|ERBB4_ENST00000436443.1_Missense_Mutation_p.P517A	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	517	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CATTGGTCTGGCCCAGGTCCC	0.488000										TSP Lung(8;0.080)			8	20					0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935417	151935417	+	Silent	SNP	G	G	A	rs149076914		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:151935417G>A	ENST00000393902.3	-	3	1317	c.750C>T	c.(748-750)ttC>ttT	p.F250F	MAGEA3_ENST00000370278.3_Silent_p.F250F			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	250	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTGCACGAAATGTTGGG	0.537000													39	113					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207737267	207737267	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:207737267C>A	ENST00000367049.4	+	22	3645	c.3645C>A	c.(3643-3645)aaC>aaA	p.N1215K	CR1_ENST00000367051.1_Missense_Mutation_p.N765K|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.N765K|CR1_ENST00000400960.2_Missense_Mutation_p.N765K|CR1_ENST00000367052.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	765	Sushi 19.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACAAGGACAACTTTTCACCCG	0.552000													31	52					1.22674e-20	1.26296e-20	1	1	0
MEP1A	4224	broad.mit.edu	37	6	46803250	46803250	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:46803250G>A	ENST00000230588.4	+	13	2057	c.2048G>A	c.(2047-2049)gGc>gAc	p.G683D		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	683	EGF-like.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CAAAATGACGGCATCTGTGTG	0.602000													8	30					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86284490	86284490	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:86284490C>T	ENST00000394518.2	+	35	7917	c.7822C>T	c.(7822-7824)Cgt>Tgt	p.R2608C	AKAP13_ENST00000394510.2_Missense_Mutation_p.R853C|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.R2612C	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2608	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GTGGGAAGCTCGTGAGAGGGA	0.692000													4	9					0	0	1	0	0
DMWD	1762	broad.mit.edu	37	19	46289540	46289540	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:46289540G>A	ENST00000270223.6	-	3	1259	c.1214C>T	c.(1213-1215)cCc>cTc	p.P405L	DMWD_ENST00000377735.3_Missense_Mutation_p.P405L	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	405					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CGCAGCCTCGGGCTCCTCCTC	0.697000													23	37					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61951495	61951495	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:61951495C>T	ENST00000422202.1	+	23	3110	c.3042C>T	c.(3040-3042)ttC>ttT	p.F1014F	COL20A1_ENST00000358894.6_Silent_p.F1007F|COL20A1_ENST00000326996.6_Silent_p.F1007F|COL20A1_ENST00000435874.1_Silent_p.F1014F			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1007	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTGCGGGCTTCGTCACGCTGG	0.726000													7	4					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96201713	96201713	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:96201713G>A	ENST00000225235.4	+	2	1142	c.1032G>A	c.(1030-1032)tgG>tgA	p.W344*		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	344						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CTCCTGGTTGGAAATTATTTG	0.363000													19	32					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128983534	128983534	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:128983534C>T	ENST00000274487.4	+	12	2076	c.1931C>T	c.(1930-1932)cCt>cTt	p.P644L	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	644	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTGTGGAGTCCTTGTAGCCGA	0.522000													38	100					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108219114	108219114	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:108219114G>A	ENST00000273353.3	-	5	463	c.407C>T	c.(406-408)tCa>tTa	p.S136L		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	136	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GAAGAGACCTGAATATGTCTG	0.423000													22	40					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34015005	34015005	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:34015005G>A	ENST00000389232.4	+	44	6779	c.6709G>A	c.(6709-6711)Gga>Aga	p.G2237R	RYR3_ENST00000415757.3_Missense_Mutation_p.G2237R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2237	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGGTGAGGGGGGAAACGGGCT	0.577000													37	100					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1424524	1424524	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:1424524G>A	ENST00000381509.3	+	13	1291	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R	CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381524.3_Intron|CSF2RA_ENST00000381529.3_Intron|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000498153.1_Intron|CSF2RA_ENST00000432318.2_Intron|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000417535.2_Intron|CSF2RA_ENST00000361536.3_Intron	NM_001161531.1	NP_001155003.1	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	0						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCACCAGATGGGACCGCAGCG	0.642000													8	13					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179554661	179554661	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:179554661G>A	ENST00000393371.2	-	5	958	c.662C>T	c.(661-663)cCt>cTt	p.P221L	RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.P70L|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.P221L			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	221	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAACTCCTCAGGCCCGATGTG	0.617000													12	23					0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53238457	53238457	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:53238457G>A	ENST00000359499.4	-	5	488	c.477C>T	c.(475-477)tcC>tcT	p.S159S	KRT78_ENST00000304620.4_Silent_p.S269S			Q8N1N4	K2C78_HUMAN	keratin 78	269	Linker 1.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TGTTGTCCATGGACAGCACCA	0.637000													10	69					0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53611914	53611914	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:53611914G>A	ENST00000455735.2	-	7	1848	c.1528C>T	c.(1528-1530)Cat>Tat	p.H510Y	ZNF415_ENST00000601493.1_Missense_Mutation_p.H232Y|ZNF415_ENST00000500065.4_Missense_Mutation_p.H462Y|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.H474Y|ZNF415_ENST00000243643.4_Missense_Mutation_p.H462Y|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.H510Y|ZNF415_ENST00000440291.1_Missense_Mutation_p.H449Y			Q09FC8	ZN415_HUMAN	zinc finger protein 415	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TCTCCAGTATGGATGACCTGA	0.438000													37	83					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027639	37027639	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:37027639C>T	ENST00000358047.3	+	1	1208	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	386										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCAAGACTCGCGTACCTCC	0.627000													23	46					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52908816	52908816	+	Silent	SNP	C	C	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:52908816C>A	ENST00000252242.4	-	9	2073	c.1683G>T	c.(1681-1683)ctG>ctT	p.L561L		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	561	Ser-rich.|Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCCACCCCCAGCCCTCGGC	0.627000													5	36					0.248553	0.249174	1	1	0
GAS2L2	246176	broad.mit.edu	37	17	34072116	34072116	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:34072116G>A	ENST00000254466.6	-	6	2427	c.2400C>T	c.(2398-2400)gcC>gcT	p.A800A	GAS2L2_ENST00000587565.1_Silent_p.A784A	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	800					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGAAGACATAGGCCAGTGGCC	0.637000													60	72					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143715241	143715241	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:143715241G>A	ENST00000264170.4	+	7	797	c.539G>A	c.(538-540)gGa>gAa	p.G180E	KYNU_ENST00000375773.2_Missense_Mutation_p.G180E|KYNU_ENST00000409512.1_Missense_Mutation_p.G180E	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	180					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CAACTTCACGGACTTAACATT	0.308000													6	18					0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131528729	131528729	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:131528729G>A	ENST00000401867.1	-	16	2150	c.1582C>T	c.(1582-1584)Cct>Tct	p.P528S	P4HA2_ENST00000360568.3_Missense_Mutation_p.P526S|P4HA2_ENST00000379100.2_Missense_Mutation_p.P526S|P4HA2_ENST00000379104.2_Missense_Mutation_p.P528S|P4HA2_ENST00000379086.1_Missense_Mutation_p.P526S|P4HA2_ENST00000166534.4_Missense_Mutation_p.P528S			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	528						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GATCCACAAGGTCTCAAGAAC	0.443000													15	36					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233283	21233283	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:21233283C>T	ENST00000233242.1	-	26	6584	c.6457G>A	c.(6457-6459)Gaa>Aaa	p.E2153K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2153	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATATCATTTTCTGTAATTCTA	0.308000													5	4					0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38040904	38040904	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:38040904C>T	ENST00000599616.1	+	7	523	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000442465.2_Missense_Mutation_p.R239C|SH3BP1_ENST00000357436.4_Missense_Mutation_p.R239C|SH3BP1_ENST00000336738.5_Missense_Mutation_p.R239C|Z83844.1_ENST00000456099.1_RNA			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	239	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CGATTACCATCGCAGGTCACT	0.617000													29	17					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47812544	47812544	+	Missense_Mutation	SNP	G	G	A	rs141867524		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:47812544G>A	ENST00000285106.6	-	4	1021	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	CXXC1_ENST00000412036.2_Missense_Mutation_p.R103W|CXXC1_ENST00000589940.1_Missense_Mutation_p.R103W	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	103					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCCTCATCCCGGGGCTCACTG	0.642000													65	117					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967420	81967420	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:81967420C>T	ENST00000282701.2	+	2	1165	c.845C>T	c.(844-846)tCc>tTc	p.S282F		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	282					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GCTGCCCTTTCCATTGAGCGG	0.507000													13	36					0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106186377	106186377	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:106186377C>T	ENST00000355610.4	-	15	2018	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	MORC4_ENST00000255495.7_Missense_Mutation_p.E582K|MORC4_ENST00000535534.1_Missense_Mutation_p.E330K	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	582							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GTTGTCATCTCATTCTGGAGC	0.448000													27	79					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8137961	8137961	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:8137961G>A	ENST00000600128.1	-	62	8337	c.7923C>T	c.(7921-7923)ttC>ttT	p.F2641F	FBN3_ENST00000601739.1_Silent_p.F2641F|FBN3_ENST00000270509.2_Silent_p.F2641F			Q75N90	FBN3_HUMAN	fibrillin 3	2641	EGF-like 44; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCCAGCCCGGAAGTAGCCTT	0.647000													35	54					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31088233	31088233	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:31088233C>T	ENST00000394979.2	+	1	1011	c.588C>T	c.(586-588)gcC>gcT	p.A196A	ZNF646_ENST00000300850.5_Silent_p.A196A			O15015	ZN646_HUMAN	zinc finger protein 646	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTGCCAGAGCCCCTCCTCTCC	0.592000													5	40					0	0	1	0	0
UBASH3B	84959	broad.mit.edu	37	11	122650289	122650289	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:122650289C>T	ENST00000284273.5	+	4	862	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	163						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GGCCCCGCTGCCCCTGGAGCT	0.577000													23	51					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766856	77766856	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:77766856C>T	ENST00000521891.2	+	10	8147	c.7699C>T	c.(7699-7701)Cac>Tac	p.H2567Y	ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2522Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2522Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2541Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2522						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)			CAGTTCCTCCCACACCACAGC	0.498000										HNSCC(33;0.089)			21	44					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001844	177001844	+	Missense_Mutation	SNP	G	G	A	rs145957941		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:177001844G>A	ENST00000367654.2	-	3	626	c.613C>T	c.(613-615)Cct>Tct	p.P205S	ASTN1_ENST00000424564.2_Missense_Mutation_p.P205S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.P205S|ASTN1_ENST00000367657.3_Missense_Mutation_p.P205S			O14525	ASTN1_HUMAN	astrotactin 1	205					cell migration|neuron cell-cell adhesion	integral to membrane		p.P205S(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGCACAGAAGGAATGTAGTGA	0.632000													15	44					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83636148	83636148	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:83636148G>A	ENST00000566620.1	+	8	1340	c.1050G>A	c.(1048-1050)acG>acA	p.T350T	CDH13_ENST00000268613.10_Silent_p.T397T|CDH13_ENST00000428848.3_Silent_p.T311T	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	350	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCACAGCCACGATCATGATCG	0.463000													82	131					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234343481	234343481	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:234343481C>T	ENST00000264057.2	+	5	532	c.520C>T	c.(520-522)Ccg>Tcg	p.P174S	DGKD_ENST00000409813.3_Missense_Mutation_p.P130S	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	174					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CCACGCGAGGCCGACCTACTG	0.562000													57	72					0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109867706	109867706	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:109867706G>T	ENST00000256637.6	-	14	1707	c.1649C>A	c.(1648-1650)tCc>tAc	p.S550Y	SORT1_ENST00000538502.1_Missense_Mutation_p.S413Y	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	550					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TTCGTCTGTGGAGAACCTGAA	0.458000													11	8					1.58986e-06	1.60994e-06	1	1	0
PALB2	79728	broad.mit.edu	37	16	23646997	23646997	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:23646997C>T	ENST00000261584.4	-	4	1022	c.870G>A	c.(868-870)gaG>gaA	p.E290E		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	290	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TGCCTTGTGCCTCCAAACTTA	0.388000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					35	73					0	0	1	0	0
ART5	116969	broad.mit.edu	37	11	3661381	3661381	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:3661381C>T	ENST00000397068.3	-	2	670	c.278G>A	c.(277-279)gGa>gAa	p.G93E	ART5_ENST00000397067.3_Missense_Mutation_p.G93E|ART5_ENST00000359918.4_Missense_Mutation_p.G93E	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	93						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATGGCTATTCCATTCTGGGC	0.602000													38	69					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76458958	76458958	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:76458958C>T	ENST00000389840.5	-	57	9224	c.9100G>A	c.(9100-9102)Ggc>Agc	p.G3034S	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.G3043S					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCATCAGGCCGTTCTCCAGC	0.582000													11	31					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791092	95791092	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:95791092G>A	ENST00000260766.3	+	2	923	c.289G>A	c.(289-291)Gat>Aat	p.D97N	PLCE1_ENST00000371380.2_Missense_Mutation_p.D97N	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	97					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AATCATGCCAGATTCTGCGAA	0.388000													31	44					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531217	42531217	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:42531217G>A	ENST00000282030.5	+	4	2208	c.1912G>A	c.(1912-1914)Gga>Aga	p.G638R		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	638						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCTAGTGCCGGGAGAGGACAA	0.483000									Schinzel-Giedion syndrome				22	51					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153039361	153039361	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:153039361G>A	ENST00000538966.1	+	21	3667	c.3396G>A	c.(3394-3396)cgG>cgA	p.R1132R	PLXNB3_ENST00000361971.5_Silent_p.R1109R|PLXNB3_ENST00000538282.1_Silent_p.R719R|PLXNB3_ENST00000538776.1_Silent_p.R762R	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1109	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCTGTGCCGGAGCCCTGCTG	0.652000													28	57					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46875713	46875713	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:46875713G>A	ENST00000359759.4	+	1	290	c.269G>A	c.(268-270)gGc>gAc	p.G90D	COL18A1_ENST00000355480.5_Missense_Mutation_p.G90D|COL18A1_ENST00000400337.2_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	90					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGGAAGATGGCCAGGACACC	0.647000													26	96					0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185012385	185012385	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:185012385G>A	ENST00000296741.2	-	8	1409	c.1268C>T	c.(1267-1269)cCt>cTt	p.P423L		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	423					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GGGCCAGACAGGCGGGGCAGT	0.552000													40	55					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1271141	1271141	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:1271141C>T	ENST00000447027.1	+	31	13098	c.13040C>T	c.(13039-13041)cCc>cTc	p.P4347L	MUC5B_ENST00000529681.1_Missense_Mutation_p.P4344L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4344	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACCACACCCGTGGCCACC	0.627000													29	101					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175434	55175434	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:55175434G>A	ENST00000391736.1	+	5	608	c.293G>A	c.(292-294)tGt>tAt	p.C98Y	LILRB4_ENST00000391733.3_Missense_Mutation_p.C98Y|LILRB4_ENST00000430952.2_Missense_Mutation_p.C98Y|LILRB4_ENST00000391734.3_Missense_Mutation_p.C98Y|LILRB4_ENST00000270452.2_Missense_Mutation_p.C98Y	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	98	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGATACCGCTGTTACTATCGC	0.602000													68	113					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30961298	30961298	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:30961298C>T	ENST00000399914.1	-	10	1906	c.1385G>A	c.(1384-1386)gGa>gAa	p.G462E	GRIK1_ENST00000399907.1_Missense_Mutation_p.G477E|GRIK1_ENST00000327783.4_Missense_Mutation_p.G477E|GRIK1_ENST00000535441.1_Missense_Mutation_p.G479E|GRIK1_ENST00000389124.2_Missense_Mutation_p.G477E|GRIK1_ENST00000309434.7_Missense_Mutation_p.G479E|GRIK1_ENST00000389125.3_Missense_Mutation_p.G462E|GRIK1_ENST00000399913.1_Missense_Mutation_p.G477E|GRIK1_ENST00000399909.1_Missense_Mutation_p.G462E			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	477					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TAGGCAATATCCTTCAAATCT	0.363000													7	73					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51523986	51523986	+	Silent	SNP	T	T	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:51523986T>A	ENST00000371117.3	-	61	11213	c.10938A>T	c.(10936-10938)tcA>tcT	p.S3646S		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3646					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAGCCCTATGTGAGTTCATTT	0.423000													6	111					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16510261	16510261	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:16510261G>A	ENST00000502640.1	-	7	936	c.788C>T	c.(787-789)tCc>tTc	p.S263F	LDB2_ENST00000304523.5_Missense_Mutation_p.S263F|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000515064.1_Missense_Mutation_p.S263F|LDB2_ENST00000503178.2_Missense_Mutation_p.S139F|LDB2_ENST00000441778.2_Missense_Mutation_p.S263F			O43679	LDB2_HUMAN	LIM domain binding 2	263							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GCTGCTGGTGGAATTTTTCCT	0.493000													6	32					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76424696	76424696	+	Silent	SNP	G	G	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:76424696G>T	ENST00000389840.5	-	77	12604	c.12480C>A	c.(12478-12480)gtC>gtA	p.V4160V	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.V4161V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTCTGAGGTGACCGTCAGAA	0.562000													14	35					1.5739e-10	1.60389e-10	1	1	0
TAF7	6879	broad.mit.edu	37	5	140699265	140699265	+	Missense_Mutation	SNP	G	G	A	rs36050119		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:140699265G>A	ENST00000313368.5	-	1	1065	c.347C>T	c.(346-348)cCt>cTt	p.P116L		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	116					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGCTTTAGGATCAGTGCT	0.423000													19	53					0	0	1	0	0
TIGIT	201633	broad.mit.edu	37	3	114014634	114014634	+	Missense_Mutation	SNP	G	G	A	rs146935299	by1000genomes	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:114014634G>A	ENST00000481065.1	+	3	3120	c.505G>A	c.(505-507)Gat>Aat	p.D169N	TIGIT_ENST00000486257.1_Missense_Mutation_p.D102N|TIGIT_ENST00000383671.3_Missense_Mutation_p.D102N			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	102					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	p.D102N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GACCGTGAACGATACAGGGGA	0.567000													21	44					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167012377	167012377	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:167012377G>A	ENST00000061240.2	+	19	3187	c.2540G>A	c.(2539-2541)cGa>cAa	p.R847Q	TLL1_ENST00000507499.1_Missense_Mutation_p.R870Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	847	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTCTTGGACGACTGTGTGGC	0.398000													15	39					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1279559	1279559	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:1279559G>A	ENST00000447027.1	+	43	16622		c.e43-1		MUC5B_ENST00000529681.1_Splice_Site			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming						cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TTTCCTTCCAGGACCTCAGCT	0.637000													5	18					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91757385	91757385	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:91757385C>T	ENST00000389857.6	-	24	4242	c.4156G>A	c.(4156-4158)Gaa>Aaa	p.E1386K		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1386					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ATGATTTTTTCTTCCAGCTTT	0.333000													6	3					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61912445	61912445	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:61912445G>A	ENST00000332981.5	+	4	998		c.e4+1		PRKCH_ENST00000555082.1_Splice_Site	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta						intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CAGTGCCAAGGTAAGGAAACA	0.343000													51	95					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21402259	21402259	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:21402259C>T	ENST00000313654.9	+	20	2589	c.2348C>T	c.(2347-2349)tCc>tTc	p.S783F	LAMA3_ENST00000399516.3_Missense_Mutation_p.S783F	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	783					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAAGTGGCTCCTTGTTTCGT	0.378000													8	43					0	0	1	0	0
C16orf89	146556	broad.mit.edu	37	16	5105333	5105333	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:5105333C>T	ENST00000315997.5	-	6	983	c.782G>A	c.(781-783)gGc>gAc	p.G261D	C16orf89_ENST00000350219.4_Missense_Mutation_p.G299D|C16orf89_ENST00000474471.3_Missense_Mutation_p.G293D|C16orf89_ENST00000472572.3_Missense_Mutation_p.G261D|C16orf89_ENST00000422873.1_Missense_Mutation_p.G299D|ALG1_ENST00000588623.1_Intron	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	261						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GGAGAAGCCGCCCATTCCACA	0.647000													5	12					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	86001186	86001186	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:86001186C>T	ENST00000372105.3	-	1	31	c.10G>A	c.(10-12)Gca>Aca	p.A4T		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	4						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						ATGCCTAATGCCACCCTCATG	0.672000													7	11					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605201	140605201	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:140605201C>T	ENST00000239449.4	+	1	2124	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F	PCDHB14_ENST00000515856.2_Silent_p.F555F	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		708					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCGGTGC	0.701000													61	88					0	0	1	0	0
KRTAP21-2	337978	broad.mit.edu	37	21	32119366	32119366	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:32119366C>T	ENST00000333892.2	-	1	185	c.155G>A	c.(154-156)gGa>gAa	p.G52E		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	52						intermediate filament				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						agagccgtatccacagccata	0.522000													32	45					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492586	74492586	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:74492586C>T	ENST00000354431.4	-	8	1977	c.1786G>A	c.(1786-1788)Gcc>Acc	p.A596T	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.A596T	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	596										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTTTCACAGGCTTTTTCAAAG	0.303000													3	6					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	83933494	83933494	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:83933494G>A	ENST00000369705.3	-	12	1550	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	ME1_ENST00000543031.1_Silent_p.F403F|ME1_ENST00000541327.1_Silent_p.F312F	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	478					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	CAGTAGTGAGGAAAATATTAT	0.418000													9	20					0	0	1	0	0
RPL3L	6123	broad.mit.edu	37	16	1996982	1996982	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:1996982G>A	ENST00000268661.7	-	6	900	c.806C>T	c.(805-807)gCc>gTc	p.A269V		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	269					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						CTTCTGCCCGGCCCGAGCAAT	0.667000													36	70					0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142561867	142561867	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:142561867G>A	ENST00000295992.3	-	4	778	c.472C>T	c.(472-474)Ctt>Ttt	p.L158F	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.L158F	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	158	CUB 2.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGTCTGTCAAGGAGTCCTCCA	0.458000													21	73					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27457424	27457424	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:27457424C>T	ENST00000264705.4	+	23	3819	c.3657C>T	c.(3655-3657)gtC>gtT	p.V1219V	CAD_ENST00000403525.1_Silent_p.V1156V	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1219	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACGTACGTGTCTCTCGCTCCT	0.547000													52	112					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561572	9561572	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:9561572G>A	ENST00000378429.3	-	5	756	c.210C>T	c.(208-210)atC>atT	p.I70I	PAK7_ENST00000378423.1_Silent_p.I70I|PAK7_ENST00000353224.5_Silent_p.I70I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	70	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTCCTCTAACGATTGTCTGGG	0.418000													49	57					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522810	23522810	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:23522810G>A	ENST00000296682.3	+	8	880	c.698G>A	c.(697-699)gGg>gAg	p.G233E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	233					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTGGACAAGGGGCACCCCAAC	0.557000										HNSCC(3;0.000094)			14	33					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	131042224	131042224	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:131042224A>G	ENST00000307968.7	-	8	709	c.710T>C	c.(709-711)tTg>tCg	p.L237S	FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.L265S|FNIP1_ENST00000511848.1_Missense_Mutation_p.L265S|FNIP1_ENST00000307954.8_Missense_Mutation_p.L220S	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		AGTGATCAGCAAGCTGCTGAG	0.413000													18	33					0	0	1	0	0
LIM2	3982	broad.mit.edu	37	19	51890437	51890437	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:51890437C>T	ENST00000221973.3	-	2	303	c.261G>A	c.(259-261)tgG>tgA	p.W87*	LIM2_ENST00000596399.1_Intron	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	58					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		gcagagttctccatctggaaT	0.612000													10	40					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1026397	1026397	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:1026397C>T	ENST00000421673.2	-	20	2526	c.2476G>A	c.(2476-2478)Gag>Aag	p.E826K		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	826					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CATGGGCACTCCTCGGGGGGC	0.647000													6	14					0	0	1	0	0
UGT1A4	54657	broad.mit.edu	37	2	234627932	234627932	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:234627932C>T	ENST00000373409.3	+	1	509	c.466C>T	c.(466-468)Ctc>Ttc	p.L156F	UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_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)		CCCCGTTAACCTCTGTGGGGC	0.488000													53	107					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129123215	129123215	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:129123215G>A	ENST00000505956.1	-	7	1443	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	EFCAB12_ENST00000326085.3_Silent_p.F427F	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		TGTCCATCTGGAAAATGATCT	0.577000													46	54					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24775342	24775342	+	Silent	SNP	A	A	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:24775342A>G	ENST00000221166.5	+	3	2756	c.1974A>G	c.(1972-1974)aaA>aaG	p.K658K	NEFM_ENST00000433454.2_Silent_p.K282K|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000437366.2_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	658	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTGTGCCGAAATCACCAGTGG	0.502000													4	99					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67178853	67178853	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:67178853G>A	ENST00000269081.4	-	22	3503	c.2594C>T	c.(2593-2595)tCc>tTc	p.S865F	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	865					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TCCATTGTAGGAGGGATCATC	0.373000													59	106					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106456604	106456604	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:106456604G>A	ENST00000407775.2	+	3	546	c.296G>A	c.(295-297)gGa>gAa	p.G99E	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	99					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GACTGGGATGGACCAGGTAGG	0.428000													7	8					0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120114596	120114596	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:120114596G>T	ENST00000332843.2	+	4	343	c.302G>T	c.(301-303)gGg>gTg	p.G101V	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	101	Collagen-like.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GGTGACAAAGGGGAAAAAGGT	0.333000													15	28					1.52009e-12	1.55499e-12	1	1	0
SLC25A22	79751	broad.mit.edu	37	11	792389	792389	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:792389G>A	ENST00000320230.5	-	8	1138	c.657C>T	c.(655-657)tcC>tcT	p.S219S	SLC25A22_ENST00000531214.1_Silent_p.S219S	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	219						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	p.S219S(1)		endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	ACTTCTCCTCGGACGCCGGGC	0.652000													42	102					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577844	9577844	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:9577844T>A	ENST00000301480.4	-	10	1992	c.1779A>T	c.(1777-1779)agA>agT	p.R593S		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	593					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						CTCCACTGTGTCTTCGTAAAT	0.413000													37	77					0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50289961	50289961	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:50289961C>T	ENST00000313601.6	+	3	678	c.294C>T	c.(292-294)ccC>ccT	p.P98P	GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000451956.1_Silent_p.P61P|GNAI2_ENST00000440628.1_Silent_p.P46P|GNAI2_ENST00000536647.1_Silent_p.P17P|GNAI2_ENST00000422163.1_Silent_p.P82P|GNAI2_ENST00000266027.5_Silent_p.P82P	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	98					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TTGCCGACCCCTCCAGAGCGG	0.582000													5	10					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176671860	176671860	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:176671860G>A	ENST00000367662.3	+	9	4518	c.3354G>A	c.(3352-3354)ggG>ggA	p.G1118G		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1118					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						GTGGAGATGGGAAGGTGTCAG	0.502000													16	33					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50090055	50090055	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:50090055T>A	ENST00000281631.5	+	11	910	c.752T>A	c.(751-753)tTt>tAt	p.F251Y	PARP8_ENST00000505554.1_Missense_Mutation_p.F230Y|PARP8_ENST00000503750.2_Missense_Mutation_p.F251Y|PARP8_ENST00000505697.2_Missense_Mutation_p.F251Y|PARP8_ENST00000514342.2_Missense_Mutation_p.F4Y|PARP8_ENST00000514067.2_Missense_Mutation_p.F251Y|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	251						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ATGCAGACATTTGTTACACAG	0.338000													21	28					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51523988	51523988	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:51523988A>G	ENST00000371117.3	-	61	11211	c.10936T>C	c.(10936-10938)Tca>Cca	p.S3646P		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3646					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCCCTATGTGAGTTCATTTCC	0.428000													7	115					0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102504367	102504367	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:102504367T>C	ENST00000413150.2	+	27	3264	c.3209T>C	c.(3208-3210)gTt>gCt	p.V1070A	MAP4K4_ENST00000456652.1_Missense_Mutation_p.V954A|MAP4K4_ENST00000302217.5_Missense_Mutation_p.V958A|MAP4K4_ENST00000347699.4_Missense_Mutation_p.V1155A|MAP4K4_ENST00000350878.4_Missense_Mutation_p.V1195A|MAP4K4_ENST00000350198.4_Missense_Mutation_p.V1082A|MAP4K4_ENST00000324219.4_Missense_Mutation_p.V1236A|MAP4K4_ENST00000425019.1_Missense_Mutation_p.V1188A	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1155	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAGGATGTAGTTCTACAGTGG	0.443000													51	79					0	0	1	0	0
LCE5A	254910	broad.mit.edu	37	1	152484240	152484240	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:152484240C>T	ENST00000334269.2	+	2	406	c.230C>T	c.(229-231)tCc>tTc	p.S77F		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	77	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCGCCAGTCCCTCCGACGC	0.682000													25	60					0	0	1	0	0
DUPD1	338599	broad.mit.edu	37	10	76803759	76803759	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:76803759G>A	ENST00000338487.5	-	2	216	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	73	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGCCTATAGCGGTCCAGCGCC	0.697000													11	19					0	0	1	0	0
EXOSC4	54512	broad.mit.edu	37	8	145135313	145135313	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:145135313C>T	ENST00000316052.5	+	3	650	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S	EXOSC4_ENST00000525936.1_Missense_Mutation_p.P140L	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	183					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-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;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCTGGTGGCCCCCAGCTGGC	0.657000													25	48					0	0	1	0	0
HINT2	84681	broad.mit.edu	37	9	35813677	35813677	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:35813677C>T	ENST00000259667.5	-	2	227	c.186G>A	c.(184-186)aaG>aaA	p.K62K	HINT2_ENST00000474908.1_5'UTR	NM_032593.2	NP_115982.1	Q9BX68	HINT2_HUMAN	histidine triad nucleotide binding protein 2	62	HIT.				apoptosis|steroid biosynthetic process	mitochondrion	hydrolase activity			NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			CTGGGAGGCTCTTGTCCAGGA	0.557000											OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	43					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19058513	19058513	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:19058513C>T	ENST00000421369.3	+	12	1910	c.1352C>T	c.(1351-1353)tCa>tTa	p.S451L	TMC7_ENST00000569532.1_Missense_Mutation_p.S561L|TMC7_ENST00000304381.5_Missense_Mutation_p.S561L	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	561						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GCCTTTTTCTCACCCCTTCTC	0.502000													135	258					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65909225	65909225	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:65909225A>T	ENST00000321892.4	+	13	5664	c.5603A>T	c.(5602-5604)tAt>tTt	p.Y1868F	BPTF_ENST00000424123.3_Missense_Mutation_p.Y1729F|BPTF_ENST00000306378.6_Missense_Mutation_p.Y1742F|BPTF_ENST00000335221.5_Missense_Mutation_p.Y1868F			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1868					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAGGTCCCTTATTTTAATTAC	0.378000													16	130					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546617	11546617	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:11546617G>T	ENST00000389362.4	-	3	430	c.395C>A	c.(394-396)cCt>cAt	p.P132H	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			AGGAGGTGGAGGACCTTGAGG	0.607000													15	727					5.03518e-11	5.13768e-11	1	1	0
PDIA2	64714	broad.mit.edu	37	16	334953	334953	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:334953G>A	ENST00000219406.6	+	4	634	c.616G>A	c.(616-618)Gac>Aac	p.D206N	PDIA2_ENST00000404312.1_Missense_Mutation_p.D203N|PDIA2_ENST00000462950.1_3'UTR	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	206					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		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)				TGGCCTCACAGACCGGCCGCG	0.642000													27	53					0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390616	8390616	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:8390616G>A	ENST00000471889.1	+	5	1448	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Missense_Mutation_p.D389N|SLC45A1_ENST00000289877.8_Missense_Mutation_p.D355N			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	355					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CATCAGCAGGGACAGCTCCCT	0.647000													16	15					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91456116	91456116	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:91456116C>T	ENST00000360468.3	+	16	2497	c.2479C>T	c.(2479-2481)Ccc>Tcc	p.P827S	MAN2A2_ENST00000559717.1_Missense_Mutation_p.P827S|MAN2A2_ENST00000430376.2_Missense_Mutation_p.P17S|MAN2A2_ENST00000431652.2_Missense_Mutation_p.P335S	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	827					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCCCTACGTCCCCAAGGAGCC	0.562000													26	63					0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50942041	50942041	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:50942041C>G	ENST00000216080.5	-	14	1996	c.1828G>C	c.(1828-1830)Gcc>Ccc	p.A610P	LMF2_ENST00000474879.2_Missense_Mutation_p.A635P|LMF2_ENST00000380796.3_Missense_Mutation_p.A522P			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	635						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGGCGGGGGCCTCCAGGGGA	0.687000													4	7					0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116046208	116046208	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:116046208C>T	ENST00000603594.1	+	11	1829	c.1508C>T	c.(1507-1509)cCt>cTt	p.P503L	VWA2_ENST00000392982.3_Missense_Mutation_p.P503L	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	503	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		TACTCGGATCCTCAGGATCTG	0.627000													20	39					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320977	79320977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:79320977C>T	ENST00000428286.1	-	8	6336	c.5136G>A	c.(5134-5136)tgG>tgA	p.W1712*	PRUNE2_ENST00000376718.3_Nonsense_Mutation_p.W2071*			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2071					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TAGCATCTATCCACAAGTCAG	0.522000													22	148					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270436	84270436	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:84270436G>A	ENST00000568181.1	-	2	776	c.656C>T	c.(655-657)cCc>cTc	p.P219L	KCNG4_ENST00000308251.4_Missense_Mutation_p.P219L			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	219						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GACCTTCCCGGGCAGCCCGGA	0.682000													14	42					0	0	1	0	0
C22orf42	150297	broad.mit.edu	37	22	32550266	32550266	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:32550266C>T	ENST00000382097.3	-	2	344	c.272G>A	c.(271-273)tGg>tAg	p.W91*		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	91										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						GTGCCGTCTCCATATTATTTT	0.373000													26	38					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118250624	118250624	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:118250624T>A	ENST00000402510.2	-	4	484	c.485A>T	c.(484-486)aAg>aTg	p.K162M		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	162										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCATTTCTTCTTTCCTGGAAG	0.408000													7	6					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31523130	31523130	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:31523130G>A	ENST00000261592.5	-	9	1738	c.1441C>T	c.(1441-1443)Cct>Tct	p.P481S	NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.P407S|NOL4_ENST00000535475.1_Missense_Mutation_p.P262S|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535384.1_Missense_Mutation_p.P196S	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	481						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AGGTGGGAAGGAATAGGTCGA	0.413000													16	27					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51523985	51523985	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:51523985G>A	ENST00000371117.3	-	61	11214	c.10939C>T	c.(10939-10941)Cat>Tat	p.H3647Y		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3647					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAGCCCTATGTGAGTTCATT	0.428000													6	109					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137872796	137872796	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:137872796G>A	ENST00000409968.1	+	5	1480	c.1302G>A	c.(1300-1302)ggG>ggA	p.G434G	THSD7B_ENST00000413152.2_Silent_p.G403G|THSD7B_ENST00000272643.3_Silent_p.G434G|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGGCGGTGGGATCCAGACCC	0.602000													13	17					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38185697	38185697	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:38185697C>T	ENST00000373048.4	-	14	2445	c.2446G>A	c.(2446-2448)Gag>Aag	p.E816K	EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.E816K|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.E311K	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	816	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGAAGTGTCTCGGGAGCGGCC	0.627000													21	20					0	0	1	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39381856	39381856	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:39381856C>T	ENST00000402182.3	+	3	269	c.214C>T	c.(214-216)Ctc>Ttc	p.L72F	APOBEC3B_ENST00000333467.3_Missense_Mutation_p.L72F|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.L72F			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	72					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					AATGTGCTTCCTCTCTTGGTT	0.587000													14	151					0	0	1	0	0
ANKRD1	27063	broad.mit.edu	37	10	92678690	92678690	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:92678690G>A	ENST00000371697.3	-	4	633	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	129					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TTATTCTCCAGAGCAGCCTTC	0.368000													25	54					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376712	8376712	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:8376712C>T	ENST00000538603.1	-	5	781	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	FAM90A1_ENST00000307435.6_Missense_Mutation_p.E75K	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	75							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CCTTCCTTTTCCCCAAAGTTC	0.547000													66	66					0	0	1	0	0
OR3A2	4995	broad.mit.edu	37	17	3181692	3181692	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:3181692G>A	ENST00000408891.2	-	1	576	c.538C>T	c.(538-540)Ccc>Tcc	p.P180S		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	180					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						ACCTCATTGGGGCCACAGAAG	0.557000													23	61					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78219056	78219056	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:78219056G>A	ENST00000361193.3	+	11	1377		c.e11+1		SLC26A11_ENST00000546047.2_Splice_Site|SLC26A11_ENST00000572725.1_Splice_Site|SLC26A11_ENST00000411502.3_Splice_Site	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11							endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCTTTGGACGGTGAGTGACCT	0.627000													16	33					0	0	1	0	0
TRUB1	142940	broad.mit.edu	37	10	116734118	116734118	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:116734118G>A	ENST00000298746.3	+	7	828	c.767G>A	c.(766-768)aGa>aAa	p.R256K		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	256					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TTTTATATCAGAAGCTTGGTC	0.328000													20	43					0	0	1	0	0
SLC25A22	79751	broad.mit.edu	37	11	792390	792390	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:792390G>A	ENST00000320230.5	-	8	1137	c.656C>T	c.(655-657)tCc>tTc	p.S219F	SLC25A22_ENST00000531214.1_Missense_Mutation_p.S219F	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	219						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	CTTCTCCTCGGACGCCGGGCG	0.652000													44	100					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1638092	1638092	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:1638092C>T	ENST00000252804.4	-	23	4374	c.4324G>A	c.(4324-4326)Ggg>Agg	p.G1442R		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1442	VWFC.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTGACCTGCCCGTCCTGGAGA	0.632000													4	6					0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36937959	36937959	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:36937959C>T	ENST00000373103.1	-	8	1424	c.877G>A	c.(877-879)Gag>Aag	p.E293K	CSF3R_ENST00000361632.4_Missense_Mutation_p.E293K|CSF3R_ENST00000440588.2_Missense_Mutation_p.E293K|CSF3R_ENST00000418048.2_Missense_Mutation_p.E293K|CSF3R_ENST00000373104.1_Missense_Mutation_p.E293K|CSF3R_ENST00000373106.1_Missense_Mutation_p.E293K|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Missense_Mutation_p.E293K|CSF3R_ENST00000331941.5_Missense_Mutation_p.E293K	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	293	Fibronectin type-III 2.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCGCAGAGCTCATACTGAAGG	0.682000													24	17					0	0	1	0	0
PLS3	5358	broad.mit.edu	37	X	114880436	114880436	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:114880436T>A	ENST00000420625.2	+	12	1441	c.1307T>A	c.(1306-1308)aTt>aAt	p.I436N	PLS3_ENST00000289290.3_Missense_Mutation_p.I400N|PLS3_ENST00000539310.1_Missense_Mutation_p.I391N|PLS3_ENST00000355899.3_Missense_Mutation_p.I436N|PLS3_ENST00000537301.1_Missense_Mutation_p.I423N|PLS3_ENST00000543070.1_Missense_Mutation_p.I30N	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	436	Actin-binding 2.|CH 3.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						TATGAACGAATTAAAGTTCCT	0.358000													4	8					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13794162	13794162	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:13794162C>T	ENST00000265104.4	-	48	7997	c.7893G>A	c.(7891-7893)acG>acA	p.T2631T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2631	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCTCTCTATCGTCCTCTGTG	0.353000									Kartagener syndrome				9	24					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24573572	24573572	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:24573572G>T	ENST00000398319.2	+	36	6691	c.6306G>T	c.(6304-6306)aaG>aaT	p.K2102N	CABIN1_ENST00000337989.7_Missense_Mutation_p.K472N|CABIN1_ENST00000405822.2_Missense_Mutation_p.K2023N|CABIN1_ENST00000263119.5_Missense_Mutation_p.K2102N	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2102					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCAGCTCCAAGGCCCCCAGCA	0.672000													4	109					2.56e-06	2.58905e-06	1	1	0
APOC4-APOC2	100533990	broad.mit.edu	37	19	45448481	45448481	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:45448481C>T	ENST00000419266.2	+	3	343	c.303C>T	c.(301-303)ttC>ttT	p.F101F	APOC4_ENST00000592954.1_Silent_p.F101F|APOC4-APOC2_ENST00000436871.1_Silent_p.F101F|APOC4-APOC2_ENST00000589057.1_Intron																							AGGCCTGGTTCCTCGAATCCA	0.572000													98	171					0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819351	17819351	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:17819351G>C	ENST00000545871.1	-	3	1240	c.780C>G	c.(778-780)ttC>ttG	p.F260L	RAI2_ENST00000331511.1_Missense_Mutation_p.F260L|RAI2_ENST00000360011.1_Missense_Mutation_p.F260L|RAI2_ENST00000415486.3_Missense_Mutation_p.F210L|RAI2_ENST00000451717.1_Missense_Mutation_p.F260L	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	260					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					AACTGGAGCTGAACTTGGATT	0.552000													19	119					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117375330	117375330	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:117375330G>A	ENST00000160373.3	-	15	3772	c.3681C>T	c.(3679-3681)ttC>ttT	p.F1227F		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1227										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TACCTTTTTGGAAAGTGCAGG	0.383000													13	41					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52192508	52192508	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:52192508G>A	ENST00000371471.2	-	4	3220	c.2795C>T	c.(2794-2796)cCc>cTc	p.P932L	ZNF217_ENST00000302342.3_Missense_Mutation_p.P932L			O75362	ZN217_HUMAN	zinc finger protein 217	932					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ATTGGCCCCGGGCTGGTCAAC	0.522000													24	93					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80327881	80327881	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:80327881G>A	ENST00000358842.3	-	1	1491	c.1474C>T	c.(1474-1476)Cag>Tag	p.Q492*		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	492					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TCTGTGGCCTGGATCTGTGGT	0.512000													30	68					0	0	1	0	0
NPTN	27020	broad.mit.edu	37	15	73866084	73866084	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:73866084C>T	ENST00000351217.6	-	4	1329	c.411G>A	c.(409-411)caG>caA	p.Q137Q	NPTN_ENST00000562924.1_Silent_p.Q137Q|NPTN_ENST00000563691.1_Silent_p.Q253Q|NPTN_ENST00000564551.1_5'UTR|NPTN_ENST00000542234.1_Silent_p.Q48Q|NPTN_ENST00000345330.4_Silent_p.Q253Q|NPTN_ENST00000545878.1_Silent_p.Q253Q|NPTN_ENST00000287226.8_Silent_p.Q253Q	NM_001161364.1|NM_017455.3	NP_001154836.1|NP_059429.1	Q9Y639	NPTN_HUMAN	neuroplastin	253					elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						TAGTGGCATCCTGCCCTTCAT	0.537000													26	34					0	0	1	0	0
MIR940	100126328	broad.mit.edu	37	16	2321824	2321824	+	RNA	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:2321824C>T	ENST00000401276.1	+	0	77					NR_030636.1																						GGCCCCCGCTCCCCGGGCCTG	0.711000													11	17					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34102825	34102825	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:34102825C>T	ENST00000389232.4	+	71	10242	c.10172C>T	c.(10171-10173)tCc>tTc	p.S3391F	RYR3_ENST00000415757.3_Missense_Mutation_p.S3386F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3391					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGCTGATCTCCCTCGCAAAA	0.527000													19	19					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134076610	134076610	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:134076610G>A	ENST00000534548.2	-	8	964	c.900C>T	c.(898-900)ttC>ttT	p.F300F		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	300					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GCATTTGATGGAAAACACAAC	0.418000													16	47					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145325997	145325997	+	Silent	SNP	A	A	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:145325997A>G	ENST00000342960.5	+	30	3905	c.3870A>G	c.(3868-3870)caA>caG	p.Q1290Q	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1290										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAGTCTTGCAAGACTCACTGG	0.468000													3	37					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41149447	41149447	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:41149447C>T	ENST00000263413.3	-	17	2783	c.2519G>A	c.(2518-2520)gGc>gAc	p.G840D	C6_ENST00000337836.5_Missense_Mutation_p.G840D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	840	C5b-binding domain.|Complement control factor I module 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TAACTGGCGGCCGTCTTGGCA	0.418000													56	99					0	0	1	0	0
POR	5447	broad.mit.edu	37	7	75583414	75583414	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:75583414C>T	ENST00000394893.1	+	2	124	c.104C>T	c.(103-105)tCg>tTg	p.S35L	POR_ENST00000461988.1_Missense_Mutation_p.S35L|POR_ENST00000419840.1_5'UTR			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	32					cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	ATTCTGTTTTCGCTCATCGTG	0.502000													4	18					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40406061	40406061	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:40406061C>T	ENST00000221347.6	-	10	4793		c.e10-1			NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein							extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCTGCTCCGGCTGTGGGGAGA	0.617000													4	8					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13866978	13866978	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:13866978G>A	ENST00000284951.5	-	9	930	c.856C>T	c.(856-858)Caa>Taa	p.Q286*	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Nonsense_Mutation_p.Q286*			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	286						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTATAGTATTGGTATATGTCC	0.338000													15	31					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72292493	72292493	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:72292493G>A	ENST00000263563.6	+	6	1018	c.750G>A	c.(748-750)acG>acA	p.T250T		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		TGCATGTGACGGAGGAGGTGT	0.622000													37	72					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175885	143175885	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:143175885C>T	ENST00000408916.1	+	1	920	c.920C>T	c.(919-921)gCc>gTc	p.A307V	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	307					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TTCTGGGTGGCCTAGATGGCA	0.517000													6	25					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332492	22332492	+	RNA	SNP	A	A	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:22332492A>C	ENST00000558896.1	+	0	299																											TATTTCTCTTATTACTATTTT	0.383000													4	95					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150706110	150706110	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:150706110C>T	ENST00000297494.3	+	18	2562	c.2205C>T	c.(2203-2205)taC>taT	p.Y735Y	NOS3_ENST00000461406.1_Silent_p.Y529Y	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	735					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCCAGAGGTACCGGCTGAGCG	0.687000											OREG0018442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	22					0	0	1	0	0
ESM1	11082	broad.mit.edu	37	5	54281129	54281129	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:54281129C>T	ENST00000381405.4	-	1	362	c.217G>A	c.(217-219)Gat>Aat	p.D73N	ESM1_ENST00000381403.4_Missense_Mutation_p.D73N|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	73	IGFBP N-terminal.				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			TTCATGCCATCCATGCCTGAG	0.587000													29	33					0	0	1	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39440985	39440985	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:39440985C>T	ENST00000308521.5	+	3	568	c.211C>T	c.(211-213)Ctc>Ttc	p.L71F	APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000491387.1_3'UTR	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	71					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					AATGTGCTTCCTCTCTTGGTT	0.602000													74	54					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2164604	2164604	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:2164604G>A	ENST00000262304.4	-	11	2628	c.2420C>T	c.(2419-2421)tCc>tTc	p.S807F	PKD1_ENST00000423118.1_Missense_Mutation_p.S807F	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	807	PKD 2.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTTGTGCCTGGACACGCCATT	0.687000													13	9					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45296551	45296551	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:45296551G>T	ENST00000447098.2	-	6	793	c.782C>A	c.(781-783)cCa>cAa	p.P261Q	PTCH2_ENST00000372192.3_Missense_Mutation_p.P261Q	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	261					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGCACTAGGTGGGCAGTGGAG	0.612000									Basal Cell Nevus syndrome				5	26					0.248553	0.249174	1	1	0
RAD50	10111	broad.mit.edu	37	5	131915024	131915024	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:131915024C>T	ENST00000265335.6	+	4	768	c.381C>T	c.(379-381)gtC>gtT	p.V127V	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	127			V -> I (in dbSNP:rs28903086).		DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGAAAAGGTCAGTCTGAGCT	0.353000								Homologous recombination					17	18					0	0	1	0	0
GPR26	2849	broad.mit.edu	37	10	125426527	125426527	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:125426527C>T	ENST00000284674.1	+	1	657	c.604C>T	c.(604-606)Cat>Tat	p.H202Y		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	202					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.H202D(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GGCCCGCTTCCATTGCAAGCG	0.627000													3	9					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153596421	153596421	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:153596421G>A	ENST00000422373.1	-	3	659	c.411C>T	c.(409-411)atC>atT	p.I137I	FLNA_ENST00000369850.3_Silent_p.I137I|FLNA_ENST00000344736.4_Silent_p.I137I|FLNA_ENST00000360319.4_Silent_p.I137I	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	137	Actin-binding.|CH 1.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGAGGCCCAGGATCAGCTTCA	0.617000													36	154					0	0	1	0	0
DUSP8	1850	broad.mit.edu	37	11	1579116	1579116	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:1579116G>A	ENST00000397374.3	-	6	856	c.729C>T	c.(727-729)atC>atT	p.I243I	DUSP8_ENST00000331588.4_Silent_p.I243I|DUSP8_ENST00000528778.1_5'UTR	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	243	Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GACAGTGGACGATGACTTGGC	0.617000													21	40					0	0	1	0	0
SP110	3431	broad.mit.edu	37	2	231077626	231077626	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:231077626G>A	ENST00000258381.6	-	4	510	c.433C>T	c.(433-435)Cct>Tct	p.P145S	SP110_ENST00000540870.1_Missense_Mutation_p.P151S|SP110_ENST00000258382.5_Missense_Mutation_p.P145S|SP110_ENST00000392048.3_Missense_Mutation_p.P145S|SP110_ENST00000358662.4_Missense_Mutation_p.P145S|SP110_ENST00000338556.3_5'UTR	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	145					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CTTGGTTGAGGGGGTTGTGGT	0.587000													51	85					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70332442	70332442	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:70332442C>T	ENST00000373644.4	+	2	556	c.347C>T	c.(346-348)tCc>tTc	p.S116F		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	116					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGGCGACTCTCCCAACCCCCA	0.453000													14	46					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30954222	30954222	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:30954222C>T	ENST00000295055.8	-	21	2147	c.1971G>A	c.(1969-1971)ctG>ctA	p.L657L	CAPN13_ENST00000534090.2_Silent_p.L657L	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	657	EF-hand 2.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CCATTTCTGTCAGGTAGAGTC	0.537000													4	20					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76391391	76391391	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr13:76391391G>A	ENST00000357063.3	+	13	3457	c.2197G>A	c.(2197-2199)Gaa>Aaa	p.E733K	LMO7_ENST00000526202.1_Missense_Mutation_p.E298K|LMO7_ENST00000321797.8_Missense_Mutation_p.E448K|LMO7_ENST00000465261.2_Missense_Mutation_p.E448K|LMO7_ENST00000377534.3_Missense_Mutation_p.E733K|LMO7_ENST00000341547.4_Missense_Mutation_p.E399K			Q8WWI1	LMO7_HUMAN	LIM domain 7	733						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACAATTAAAAGAACAAGATCA	0.393000													31	61					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													4	81					0	0	1	0	0
NIT2	56954	broad.mit.edu	37	3	100071283	100071283	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:100071283C>T	ENST00000394140.3	+	8	711	c.620C>T	c.(619-621)tCt>tTt	p.S207F		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	207	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						GCCACAGCCTCTCCTGCCCGG	0.488000													28	79					0	0	1	0	0
ETNPPL	64850	broad.mit.edu	37	4	109670468	109670468	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:109670468G>A	ENST00000296486.3	-	8	1007	c.853C>T	c.(853-855)Ccg>Tcg	p.P285S	ETNPPL_ENST00000512646.1_Missense_Mutation_p.P227S|ETNPPL_ENST00000411864.2_Missense_Mutation_p.P279S|ETNPPL_ENST00000510706.1_Missense_Mutation_p.P245S	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		CATGCCACCGGGTGGCCGTTG	0.458000													23	58					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	46					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153039360	153039360	+	Missense_Mutation	SNP	G	G	A	rs145360535		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:153039360G>A	ENST00000538966.1	+	21	3666	c.3395G>A	c.(3394-3396)cGg>cAg	p.R1132Q	PLXNB3_ENST00000361971.5_Missense_Mutation_p.R1109Q|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R719Q|PLXNB3_ENST00000538776.1_Missense_Mutation_p.R762Q	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1109	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTGTGCCGGAGCCCTGCT	0.652000													28	57					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8375212	8375212	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:8375212C>T	ENST00000538603.1	-	7	1159	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	FAM90A1_ENST00000307435.6_Missense_Mutation_p.E201K	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	201							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GTCTGTCTTTCCTTTGGTCCA	0.602000													33	94					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65537001	65537001	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:65537001A>C	ENST00000310193.3	-	2	391	c.218T>G	c.(217-219)cTt>cGt	p.L73R		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	73					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTGCTTTTGAAGTGTTTTCAT	0.388000													35	70					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160843735	160843735	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:160843735C>T	ENST00000283243.7	-	12	2175	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	PLA2R1_ENST00000392771.1_Missense_Mutation_p.E657K	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	657					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGCCATCTCTCTTCATACTCT	0.493000													20	42					0	0	1	0	0
SLC41A3	54946	broad.mit.edu	37	3	125726068	125726068	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:125726068C>T	ENST00000383598.2	-	10	1462	c.1176_splice	c.e10-1	p.V393_splice	SLC41A3_ENST00000508835.1_Splice_Site_p.V302_splice|SLC41A3_ENST00000346785.5_Splice_Site_p.V383_splice|SLC41A3_ENST00000360370.4_Splice_Site_p.V419_splice|SLC41A3_ENST00000315891.6_Splice_Site_p.V419_splice	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	419						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		AGGATTGTCACCTGTCAGAAG	0.537000													8	14					0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68382057	68382057	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:68382057C>T	ENST00000361478.1	-	2	1402	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	PJA1_ENST00000374583.1_Missense_Mutation_p.R342Q|PJA1_ENST00000374584.3_Missense_Mutation_p.R154Q|PJA1_ENST00000374571.4_Missense_Mutation_p.R287Q	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	342	Poly-Arg.						zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CATGGTGCGTCGTCGTCTCGG	0.527000													8	26					0	0	1	0	0
GHRL	51738	broad.mit.edu	37	3	10331519	10331519	+	Missense_Mutation	SNP	C	C	T	rs34911341	byFrequency	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:10331519C>T	ENST00000335542.8	-	4	1022	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	GHRL_ENST00000429122.1_Missense_Mutation_p.R51Q|GHRL_ENST00000287656.7_Missense_Mutation_p.R50Q|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000457360.1_Missense_Mutation_p.R51Q|GHRL_ENST00000449238.2_Missense_Mutation_p.R38Q|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000439975.2_Intron|GHRL_ENST00000430179.1_Missense_Mutation_p.R50Q|GHRLOS_ENST00000439539.3_RNA|GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000450603.1_Missense_Mutation_p.R51Q|GHRL_ENST00000449554.2_Missense_Mutation_p.R50Q|GHRL_ENST00000446937.2_Intron|GHRL_ENST00000422159.1_Missense_Mutation_p.R51Q|GHRL_ENST00000437422.2_Missense_Mutation_p.R39Q			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide	51					actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus	axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule	ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						TGCTAGAGCTCGGGGCTGCAG	0.567000													69	127					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451188	55451188	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:55451188G>A	ENST00000588756.1	-	6	1485	c.999C>T	c.(997-999)ttC>ttT	p.F333F	NLRP7_ENST00000592784.1_Silent_p.F333F|NLRP7_ENST00000590030.1_Silent_p.F333F|NLRP7_ENST00000340844.2_Silent_p.F333F|NLRP7_ENST00000328092.5_Silent_p.F333F|NLRP7_ENST00000448121.2_Silent_p.F333F|NLRP7_ENST00000446217.1_Silent_p.F361F			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	333	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGTGTCTCAGGAAATAGGCCC	0.647000													12	29					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284515	223284515	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:223284515G>A	ENST00000540964.1	-	4	2320	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F	TLR5_ENST00000342210.6_Missense_Mutation_p.S620F			O60602	TLR5_HUMAN	toll-like receptor 5	620			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGAGAAGAGGGAAACCCCAGA	0.443000													11	27					0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48192969	48192969	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:48192969G>A	ENST00000330175.4	-	7	1098	c.781C>T	c.(781-783)Cct>Tct	p.P261S	SAMD14_ENST00000503131.1_Missense_Mutation_p.P261S	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	261										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						TCGTGTTTAGGGGAGCAGGTG	0.617000													44	83					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11716655	11716655	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:11716655G>A	ENST00000381486.2	+	5	931	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	GREB1_ENST00000389825.3_Missense_Mutation_p.G101S|GREB1_ENST00000381483.2_Missense_Mutation_p.G211S|GREB1_ENST00000263834.5_Missense_Mutation_p.G211S|GREB1_ENST00000234142.5_Missense_Mutation_p.G211S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	211						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTGTTGGAAAGGCTCAGGTGA	0.552000													30	59					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80755672	80755672	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:80755672C>T	ENST00000355528.4	+	8	941	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	TBCD_ENST00000539345.2_Missense_Mutation_p.P271S|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	271					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AGACTGTTTGCCCTATGGTAA	0.269000													5	19					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70964873	70964873	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:70964873G>A	ENST00000357250.6	-	23	1749	c.1591C>T	c.(1591-1593)Cct>Tct	p.P531S	COL9A1_ENST00000370499.4_Missense_Mutation_p.P288S|COL9A1_ENST00000320755.7_Missense_Mutation_p.P288S|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	531	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TTGGGCCCAGGGAGACCAGGA	0.433000													95	101					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140938325	140938325	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:140938325C>T	ENST00000277549.5	+	21	3531	c.962C>T	c.(961-963)tCc>tTc	p.S321F	CACNA1B_ENST00000545473.1_Missense_Mutation_p.S155F|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S1130F|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S1130F|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S1129F|CACNA1B_ENST00000371372.1_Missense_Mutation_p.S1129F|CACNA1B_ENST00000277551.2_Missense_Mutation_p.S1129F			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1129					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCATACAGCTCCATGTTCTGT	0.592000													71	157					0	0	1	0	0
SYNGR1	9145	broad.mit.edu	37	22	39770350	39770350	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:39770350C>T	ENST00000328933.5	+	2	144	c.129C>T	c.(127-129)atC>atT	p.I43I	SYNGR1_ENST00000381535.4_Silent_p.I44I|SYNGR1_ENST00000318801.4_Silent_p.I43I|SYNGR1_ENST00000216155.7_Silent_p.I43I|SYNGR1_ENST00000406293.3_Silent_p.I43I	NM_004711.4	NP_004702.2			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					TCGGCTCCATCGTGAACGAGG	0.657000													13	85					0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103592546	103592546	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:103592546G>A	ENST00000226578.4	-	9	1221	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	MANBA_ENST00000505239.1_Silent_p.L317L	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	374					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		ACTGTAAAAGGAGCCGTAACC	0.348000													5	12					0	0	1	0	0
TRAJ35	28720	broad.mit.edu	37	14	22975681	22975681	+	RNA	SNP	T	T	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:22975681T>G	ENST00000390502.1	+	0	53																											AGTGATTGTTTTACCACGTAA	0.408000													72	162					0	0	1	0	0
FANCG	2189	broad.mit.edu	37	9	35074205	35074205	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:35074205G>A	ENST00000378643.3	-	14	2260	c.1769C>T	c.(1768-1770)cCc>cTc	p.P590L	FANCG_ENST00000476212.1_5'UTR	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	590					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TAGGTACAGGGGGAGAGACCT	0.507000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					10	60					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95056479	95056479	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:95056479C>T	ENST00000329597.7	+	4	931	c.721C>T	c.(721-723)Cag>Tag	p.Q241*	SERPINA5_ENST00000554276.1_Nonsense_Mutation_p.Q241*|SERPINA5_ENST00000554866.1_Nonsense_Mutation_p.Q241*|SERPINA5_ENST00000553780.1_Nonsense_Mutation_p.Q241*	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	241					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CCGCGAGGATCAGTATCACTA	0.567000													11	20					0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5475368	5475368	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:5475368C>T	ENST00000341449.2	+	1	731	c.650C>T	c.(649-651)tCc>tTc	p.S217F	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTTCCTCTCCTATGTGCTC	0.468000													37	89					0	0	1	0	0
FBP1	2203	broad.mit.edu	37	9	97380116	97380116	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:97380116G>A	ENST00000415431.1	-	4	589	c.360C>T	c.(358-360)ccC>ccT	p.P120P	FBP1_ENST00000375326.4_Silent_p.P120P	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	120					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	ATCCATCAAGGGGATCAAAAC	0.388000													9	27					0	0	1	0	0
FAM133A	286499	broad.mit.edu	37	X	92964704	92964704	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:92964704A>C	ENST00000538690.1	+	5	847	c.286A>C	c.(286-288)Aag>Cag	p.K96Q	FAM133A_ENST00000332647.4_Missense_Mutation_p.K96Q|FAM133A_ENST00000355813.5_Missense_Mutation_p.K96Q|FAM133A_ENST00000322139.4_Missense_Mutation_p.K96Q	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	96	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						aagaaagaaaaagagaaagaa	0.323000													3	10					0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126135159	126135159	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:126135159G>A	ENST00000393425.1	+	5	325	c.225_splice	c.e5-1	p.E76_splice	CCDC37_ENST00000352312.1_Splice_Site_p.E76_splice|CCDC37_ENST00000505024.1_Splice_Site_p.E76_splice			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	76										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACGCCCCCAGGAACGGCAGCA	0.697000													6	16					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69533852	69533852	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:69533852C>T	ENST00000338206.5	-	2	788	c.779G>A	c.(778-780)cGa>cAa	p.R260Q		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	260					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CCAATAGGTTCGAATGAGCCA	0.398000													32	63					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34015004	34015004	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:34015004G>A	ENST00000389232.4	+	44	6778	c.6708G>A	c.(6706-6708)ggG>ggA	p.G2236G	RYR3_ENST00000415757.3_Silent_p.G2236G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2236	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGGGTGAGGGGGGAAACGGGC	0.577000													36	99					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46977219	46977219	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:46977219A>C	ENST00000371253.2	-	11	2167	c.1952T>G	c.(1951-1953)gTg>gGg	p.V651G	GPR110_ENST00000283297.5_Missense_Mutation_p.V454G|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	651					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AGAAGGGTTCACCGTGGTGTC	0.493000													12	35					0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389580	150389580	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:150389580G>A	ENST00000223293.5	+	3	300	c.206G>A	c.(205-207)gGa>gAa	p.G69E		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	69						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAAGCTGGGGAAATAGAGAG	0.473000													7	31					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915275	48915275	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:48915275C>T	ENST00000294954.7	-	11	1682	c.1661G>A	c.(1660-1662)cGa>cAa	p.R554Q	LHCGR_ENST00000344775.3_Missense_Mutation_p.R492Q|LHCGR_ENST00000405626.1_Missense_Mutation_p.R527Q|LHCGR_ENST00000401907.1_Silent_p.S317S|LHCGR_ENST00000403273.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	554					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TTCTGGGTTTCGAACTGCAAA	0.368000													23	64					0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7016547	7016547	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:7016547C>T	ENST00000007969.8	+	5	779	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	LRRC23_ENST00000433346.1_Missense_Mutation_p.R187W|LRRC23_ENST00000443597.2_Missense_Mutation_p.R187W|LRRC23_ENST00000436789.1_Missense_Mutation_p.R187W|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000323702.5_Missense_Mutation_p.R187W	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	187										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						AGTGGAGCTTCGGGGGAACCA	0.572000													57	53					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151821244	151821244	+	Missense_Mutation	SNP	C	C	T	rs138966264		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:151821244C>T	ENST00000370306.2	+	9	1419	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	467						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CTATGGTGTTCGCTTTAATGG	0.562000													55	103					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1081669	1081669	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:1081669G>A	ENST00000441003.2	+	13	1624	c.1597G>A	c.(1597-1599)Ggc>Agc	p.G533S	MUC2_ENST00000359061.5_Missense_Mutation_p.G533S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	533	VWFD 2.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GAACTTCAACGGCCTGGAAGG	0.657000													6	17					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2384227	2384227	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:2384227G>A	ENST00000202625.2	+	9	1155	c.1093_splice	c.e9-1	p.G365_splice	TGM6_ENST00000381423.1_Splice_Site_p.G365_splice	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	365					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TCCTGCCCAGGTGTGTTCCGG	0.632000													39	86					0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62593692	62593692	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:62593692G>A	ENST00000450537.1	-	14	2259	c.2199C>T	c.(2197-2199)aaC>aaT	p.N733N	ZNF512B_ENST00000369888.1_Silent_p.N733N|ZNF512B_ENST00000217130.3_Silent_p.N733N			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCAGCTGGGGGTTCAGCGTGG	0.607000													30	215					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43190535	43190535	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:43190535G>A	ENST00000252050.4	+	38	7135	c.7051G>A	c.(7051-7053)Gtg>Atg	p.V2351M	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Missense_Mutation_p.V2241M|CUL9_ENST00000372647.2_Missense_Mutation_p.V2323M	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2351					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTACGCCTGCGTGTACAGCTT	0.612000													17	114					0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37055986	37055986	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:37055986C>T	ENST00000231790.2	+	9	957	c.741C>T	c.(739-741)tcC>tcT	p.S247S	MLH1_ENST00000455445.2_Silent_p.S6S|MLH1_ENST00000435176.1_Silent_p.S149S|MLH1_ENST00000539477.1_Silent_p.S6S|MLH1_ENST00000536378.1_Silent_p.S6S|MLH1_ENST00000458205.2_Silent_p.S6S	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	247			Missing (in HNPCC2).|S -> P (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.S247fs*3(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GTTACATATCCAATGCAAACT	0.368000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				11	24					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062027	9062027	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:9062027G>A	ENST00000397910.4	-	3	25622	c.25419C>T	c.(25417-25419)atC>atT	p.I8473I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8475	Ser-rich.|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						CTTCAGTAGAGATGTCTGGTG	0.502000													57	115					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									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)		AAATGCACATCGCTGAAAGGG	0.383000													4	103					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475020	140475020	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:140475020G>A	ENST00000194155.4	+	1	794	c.646G>A	c.(646-648)Gcg>Acg	p.A216T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		216	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACCCTCACAGCGCTAGATGG	0.532000													14	15					0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31013747	31013747	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:31013747G>A	ENST00000409904.3	+	4	811	c.553G>A	c.(553-555)Ggc>Agc	p.G185S	GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000326139.2_Missense_Mutation_p.G249S|GHRHR_ENST00000409316.1_Intron			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	249					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	GGTTCTCGCTGGCTGGGGTGA	0.617000													26	34					0	0	1	0	0
TCP10L	140290	broad.mit.edu	37	21	33949112	33949112	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:33949112G>A	ENST00000300258.3	-	5	733	c.620C>T	c.(619-621)cCc>cTc	p.P207L	TCP10L_ENST00000491828.1_5'UTR	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						CTCTGCACAGGGAGTTGGCCT	0.488000													18	39					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40979308	40979308	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:40979308C>A	ENST00000373198.3	-	11	2060	c.1825G>T	c.(1825-1827)Gtg>Ttg	p.V609L	PTPRT_ENST00000373184.1_Missense_Mutation_p.V609L|PTPRT_ENST00000373190.1_Missense_Mutation_p.V609L|PTPRT_ENST00000373193.3_Missense_Mutation_p.V609L|PTPRT_ENST00000373201.1_Missense_Mutation_p.V609L|PTPRT_ENST00000356100.2_Missense_Mutation_p.V609L|PTPRT_ENST00000373187.1_Missense_Mutation_p.V609L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	609	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTCAGCATCACTGTGATGGTC	0.542000													24	149					4.72057e-08	4.79835e-08	1	1	0
C2orf16	84226	broad.mit.edu	37	2	27799810	27799810	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:27799810G>A	ENST00000408964.2	+	1	422	c.371G>A	c.(370-372)aGa>aAa	p.R124K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	124										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTAATCCCTAGACCAGGGCAT	0.408000													29	55					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43699348	43699348	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:43699348C>T	ENST00000405312.3	-	4	1024	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.E170K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	263	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTCTTAGGTTCACAGGTGAAG	0.453000													84	155					0	0	1	0	0
MIP	4284	broad.mit.edu	37	12	56848174	56848174	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:56848174A>T	ENST00000257979.4	-	1	252	c.224T>A	c.(223-225)tTc>tAc	p.F75Y	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	75					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GCCCACAAGGAAAGCAAAAGT	0.597000													42	39					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104167	168104167	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:168104167G>T	ENST00000409195.1	+	9	6354	c.6265G>T	c.(6265-6267)Gtt>Ttt	p.V2089F	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V1867F|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V2089F|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1914					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACTGTGTCAGTTAAGAATAA	0.398000													20	24					2.39187e-15	2.45305e-15	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26164456	26164456	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:26164456G>A	ENST00000335473.7	+	4	823	c.573G>A	c.(571-573)aaG>aaA	p.K191K	MYO18B_ENST00000407587.2_Silent_p.K191K|MYO18B_ENST00000536101.1_Silent_p.K191K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	191						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAAAGGAAAAGAAAGGGGAGA	0.617000													4	9					0	0	1	0	0
DES	1674	broad.mit.edu	37	2	220285619	220285619	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:220285619G>A	ENST00000373960.3	+	5	1053	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	323	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)		GGAGATGATGGAATACCGACA	0.602000													6	14					0	0	1	0	0
MOB1B	92597	broad.mit.edu	37	4	71840938	71840938	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:71840938T>C	ENST00000309395.2	+	4	545	c.344T>C	c.(343-345)aTt>aCt	p.I115T	MOB1B_ENST00000511449.1_Intron|MOB1B_ENST00000396051.2_Missense_Mutation_p.I120T	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOL1A_HUMAN	MOB kinase activator 1B	115					hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding										CCAAAGTATATTGATTACTTG	0.368000													30	30					0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24734913	24734913	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:24734913G>A	ENST00000399409.3	-	16	2095	c.1612C>T	c.(1612-1614)Ctc>Ttc	p.L538F	RABGGTA_ENST00000216840.6_Missense_Mutation_p.L538F|RABGGTA_ENST00000560777.1_Missense_Mutation_p.L147F	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	538					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		TGCAGGTTGAGGAGGACCAGC	0.602000													5	11					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68981310	68981310	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:68981310G>A	ENST00000288368.4	+	12	1659	c.1382G>A	c.(1381-1383)aGa>aAa	p.R461K	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	461	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.R461T(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATGTTATATAGATTTCGCTAT	0.348000													13	23					0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51382635	51382635	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:51382635C>T	ENST00000216392.7	-	10	1479	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	PYGL_ENST00000544180.2_Missense_Mutation_p.E349K|PYGL_ENST00000532462.1_Missense_Mutation_p.E383K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	383					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TCCAGGGCTTCCGGGAGCACT	0.552000													6	53					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159573197	159573197	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:159573197C>T	ENST00000307765.5	+	18	2515	c.2264C>T	c.(2263-2265)tCc>tTc	p.S755F	RXFP1_ENST00000448688.2_Missense_Mutation_p.S650F|RXFP1_ENST00000460056.2_Missense_Mutation_p.S674F|RXFP1_ENST00000343542.5_Missense_Mutation_p.S707F|RXFP1_ENST00000470033.1_Missense_Mutation_p.S722F	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	755						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AGACTCAATTCCTATTCATGA	0.418000													13	53					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730217	140730217	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:140730217C>T	ENST00000523390.1	+	1	390	c.390C>T	c.(388-390)ttC>ttT	p.F130F	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCACGTTTCGTTGCAAAAG	0.423000													15	93					0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105858877	105858877	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:105858877G>A	ENST00000258456.1	+	1	678	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	188						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GGGCTACACGGAGCTCCCCGC	0.682000													18	20					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	171969266	171969266	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:171969266C>T	ENST00000336824.4	+	6	824	c.725C>T	c.(724-726)cCc>cTc	p.P242L	FNDC3B_ENST00000416957.1_Missense_Mutation_p.P242L|FNDC3B_ENST00000415807.2_Missense_Mutation_p.P242L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	242	Poly-Gly.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GGTAGTGGTCCCGGAATTAAG	0.478000													8	28					0	0	1	0	0
HELLS	3070	broad.mit.edu	37	10	96350468	96350468	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:96350468C>T	ENST00000348459.5	+	15	1807	c.1702C>T	c.(1702-1704)Cgt>Tgt	p.R568C	RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394045.1_Missense_Mutation_p.R470C|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000371332.4_Missense_Mutation_p.R614C|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	568					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GATGCTACTTCGTAAATGTTG	0.313000													28	34					0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2202686	2202686	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:2202686C>T	ENST00000544865.1	-	2	1778	c.1268G>A	c.(1267-1269)cGa>cAa	p.R423Q	SMG6_ENST00000263073.5_Missense_Mutation_p.R454Q			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	454	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTCCCACAATCGGCGTGTGGT	0.537000													19	207					0	0	1	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148748036	148748036	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:148748036C>T	ENST00000514349.1	+	5	1613	c.1034C>T	c.(1033-1035)cCg>cTg	p.P345L	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.P435L			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	435					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCACGCTCCCGAGGTTTGCA	0.607000													32	46					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21856288	21856288	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:21856288G>A	ENST00000328843.6	+	65	10588	c.10557G>A	c.(10555-10557)atG>atA	p.M3519I	DNAH11_ENST00000409508.3_Missense_Mutation_p.M3512I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3519	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGTATGGAATGGACCTGAAAG	0.458000									Kartagener syndrome				11	40					0	0	1	0	0
BCMO1	53630	broad.mit.edu	37	16	81324154	81324154	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:81324154C>T	ENST00000258168.2	+	11	2077	c.1616C>T	c.(1615-1617)tCc>tTc	p.S539F	BCMO1_ENST00000425577.2_Missense_Mutation_p.S470F	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	539					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						GACAGGGCTTCCGACTGCCAC	0.537000													7	59					0	0	1	0	0
GNB2	2783	broad.mit.edu	37	7	100276357	100276357	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:100276357G>A	ENST00000303210.4	+	10	1438	c.956G>A	c.(955-957)gGg>gAg	p.G319E	GNB2_ENST00000393924.1_Missense_Mutation_p.G319E|GNB2_ENST00000419828.1_Missense_Mutation_p.G219E|GNB2_ENST00000424361.1_Missense_Mutation_p.G275E|GNB2_ENST00000393926.1_Missense_Mutation_p.G319E|GNB2_ENST00000436220.1_Missense_Mutation_p.G275E|GNB2_ENST00000427895.1_Missense_Mutation_p.G219E	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	319					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				AGCTGCCTCGGGGTCACCGAC	0.652000													15	41					0	0	1	0	0
ELK1	2002	broad.mit.edu	37	X	47498365	47498365	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:47498365C>T	ENST00000247161.3	-	3	682	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	ELK1_ENST00000343894.4_Intron|ELK1_ENST00000592066.1_Missense_Mutation_p.G141R|ELK1_ENST00000376983.3_Missense_Mutation_p.G195R	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	195					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|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		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CTCCTGCTCCCCGAGGGGGGC	0.632000													5	3					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62475374	62475374	+	Silent	SNP	A	A	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:62475374A>G	ENST00000541428.1	-	18	1439	c.1279T>C	c.(1279-1281)Tta>Cta	p.L427L	ASPH_ENST00000379454.4_Silent_p.L456L	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	456					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TCATTTTTTAAGGAAGTATCA	0.363000													18	30					0	0	1	0	0
HTR7	3363	broad.mit.edu	37	10	92509171	92509171	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:92509171C>T	ENST00000371721.3	-	2	962	c.720G>A	c.(718-720)acG>acA	p.T240T	HTR7_ENST00000277874.6_Silent_p.T240T|HTR7_ENST00000336152.3_Silent_p.T240T|HTR7_ENST00000371719.2_Silent_p.T240T			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	240					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TAGAGTAAATCGTATAGCCAA	0.473000													22	41					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152432779	152432779	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:152432779C>T	ENST00000427231.2	-	106	16996	c.16794G>A	c.(16792-16794)caG>caA	p.Q5598Q	NEB_ENST00000603639.1_Silent_p.Q5598Q|NEB_ENST00000604864.1_Silent_p.Q5598Q|NEB_ENST00000409198.1_Silent_p.Q3897Q|NEB_ENST00000172853.10_Silent_p.Q3897Q|NEB_ENST00000397345.3_Silent_p.Q5598Q	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5610					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAAAGATATTCTGGGCGTTTT	0.483000													24	50					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746649	37746649	+	Silent	SNP	G	G	A	rs138810329		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:37746649G>A	ENST00000539465.1	+	16	5213	c.4620G>A	c.(4618-4620)tcG>tcA	p.S1540S	FRMPD1_ENST00000377765.3_Silent_p.S1540S|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1540						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTGCTAAATCGACCTGCGAGA	0.607000													62	138					0	0	1	0	0
THRSP	7069	broad.mit.edu	37	11	77775323	77775323	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:77775323G>A	ENST00000281030.2	+	1	417	c.396G>A	c.(394-396)caG>caA	p.Q132Q	NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	132					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			AGAAAGCCCAGGAGGTGACAA	0.547000													3	17					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113331210	113331210	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:113331210C>T	ENST00000263331.5	+	14	2923	c.2343C>T	c.(2341-2343)ctC>ctT	p.L781L	POLR1B_ENST00000537335.1_Silent_p.L570L|POLR1B_ENST00000541869.1_Silent_p.L819L|POLR1B_ENST00000417433.2_Silent_p.L725L|POLR1B_ENST00000409894.3_Silent_p.L598L	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	781					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCATAGACCTCTCTGAAAAAA	0.433000													28	38					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4578480	4578480	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:4578480G>A	ENST00000301396.4	-	11	1825	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W	PELP1_ENST00000572293.1_Missense_Mutation_p.R440W|PELP1_ENST00000269230.7_Missense_Mutation_p.R388W|PELP1_ENST00000574876.1_Missense_Mutation_p.R390W|PELP1_ENST00000436683.2_Missense_Mutation_p.R243W			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	390					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CGCAAGAGCCGGCTTCCACAC	0.612000													10	14					0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64573331	64573331	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:64573331T>C	ENST00000242480.3	-	2	1392	c.1067A>G	c.(1066-1068)gAg>gGg	p.E356G	EGR2_ENST00000411732.1_Missense_Mutation_p.E306G|EGR2_ENST00000439032.1_Missense_Mutation_p.E356G	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	356					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCGTGTCAGCTCGTCAGAGCG	0.627000													33	56					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89392670	89392670	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:89392670G>A	ENST00000439576.2	+	10	2108	c.1732_splice	c.e10-1	p.G578_splice	ACAN_ENST00000352105.7_Splice_Site_p.G578_splice|ACAN_ENST00000561243.1_Splice_Site_p.G578_splice|ACAN_ENST00000559004.1_Splice_Site_p.G578_splice|ACAN_ENST00000558207.1_Splice_Site_p.G578_splice	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	578					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGCCCCCAGGGGAGGTGTTCT	0.602000													4	13					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31434740	31434740	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:31434740G>A	ENST00000389202.2	+	25	2976	c.2927G>A	c.(2926-2928)gGg>gAg	p.G976E		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	976					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGCTGAACGGGGTGGCTGTG	0.537000													21	60					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762752	92762752	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:92762752G>A	ENST00000318238.4	-	5	3749	c.2533C>T	c.(2533-2535)Cca>Tca	p.P845S	SAMD9L_ENST00000437805.1_Missense_Mutation_p.P845S|SAMD9L_ENST00000411955.1_Missense_Mutation_p.P845S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	845										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTTCATCTGGATTCCGGGAT	0.363000													28	53					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99969332	99969332	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:99969332G>A	ENST00000298999.3	+	5	1764	c.1461G>A	c.(1459-1461)ttG>ttA	p.L487L	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Silent_p.L487L|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		ACACTTTTTTGGACTCTGAAC	0.398000													16	40					0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1538496	1538496	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:1538496C>T	ENST00000263071.4	-	11	2098	c.2049G>A	c.(2047-2049)gaG>gaA	p.E683E	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Silent_p.E597E	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	683	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCCCGAGCTCTCCTGGACGC	0.657000													12	31					0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42599998	42599998	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:42599998C>T	ENST00000389341.5	-	9	765	c.699G>A	c.(697-699)ctG>ctA	p.L233L	POU2F2_ENST00000560558.1_Silent_p.L194L|POU2F2_ENST00000526816.2_Silent_p.L249L|POU2F2_ENST00000342301.4_Silent_p.L249L|POU2F2_ENST00000529067.1_Silent_p.L233L|POU2F2_ENST00000533720.1_Silent_p.L233L|POU2F2_ENST00000529952.1_Silent_p.L249L|POU2F2_ENST00000560398.1_Silent_p.L255L	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	249	POU-specific.				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				TCTTGAAGCTCAGGTTGAGGG	0.637000													35	69					0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160921913	160921913	+	RNA	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:160921913G>A	ENST00000335388.5	-	0	225					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TATGTGCCTCGATAACTCTGT	0.463000													67	57					0	0	1	0	0
TBC1D29	26083	broad.mit.edu	37	17	28890309	28890309	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:28890309C>T	ENST00000580161.1	+	6	2816	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	TBC1D29_ENST00000584297.1_3'UTR|TBC1D29_ENST00000579181.1_Missense_Mutation_p.P107S			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	107						intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				CAGCAGAGGCCCCTCACTCCT	0.587000													13	17					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021806	132021806	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:132021806G>A	ENST00000356920.5	+	15	2872	c.2778G>A	c.(2776-2778)gaG>gaA	p.E926E	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	926	Actin-like.						ATP binding										TCGAGCAGGAGATGGCCACGG	0.617000													22	286					0	0	1	0	0
FPGS	2356	broad.mit.edu	37	9	130569553	130569553	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:130569553C>T	ENST00000373245.1	+	6	617	c.567C>T	c.(565-567)ttC>ttT	p.F189F	FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Intron|FPGS_ENST00000373225.3_Silent_p.F139F|FPGS_ENST00000373247.2_Silent_p.F189F			Q05932	FOLC_HUMAN	folylpolyglutamate synthase	189					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	TCCACGTCTTCCTCCAAGAGA	0.627000													56	85					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25380277	25380277	+	Missense_Mutation	SNP	G	G	T	rs121913238		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:25380277G>T	ENST00000311936.3	-	3	372	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K	KRAS_ENST00000256078.4_Missense_Mutation_p.Q61K|KRAS_ENST00000557334.1_Intron	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; 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.Q61K(32)|p.Q61E(10)	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)			TACTCCTCTTGACCTGCTGTG	0.413000	Q61K(CALU6_LUNG)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			39	38					2.47872e-24	2.55848e-24	1	1	0
COL11A2	1302	broad.mit.edu	37	6	33144996	33144996	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:33144996G>A	ENST00000341947.2	-	24	2205	c.1978C>T	c.(1978-1980)Ccc>Tcc	p.P660S	COL11A2_ENST00000361917.1_Missense_Mutation_p.P553S|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000395197.1_Missense_Mutation_p.P600S|COL11A2_ENST00000374712.1_Missense_Mutation_p.P579S|COL11A2_ENST00000357486.1_Missense_Mutation_p.P639S|COL11A2_ENST00000374708.4_Missense_Mutation_p.P574S|COL11A2_ENST00000374714.1_Missense_Mutation_p.P634S|COL11A2_ENST00000374713.1_Missense_Mutation_p.P613S	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	660	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGGGGCCCGGGAAGACCCTAC	0.557000													5	97					0	0	1	0	0
RPL7L1	285855	broad.mit.edu	37	6	42848633	42848633	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:42848633C>T	ENST00000493763.1	+	2	352	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	RPL7L1_ENST00000424341.2_Silent_p.L17L|RPL7L1_ENST00000602561.1_Silent_p.L17L|RPL7L1_ENST00000397415.3_3'UTR|RPL7L1_ENST00000304734.5_Silent_p.L17L	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	17					translation	large ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			AGAAAATCTCCTGAAAAAGAG	0.453000													17	65					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57430004	57430004	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:57430004C>T	ENST00000371100.4	+	1	2236	c.1684C>T	c.(1684-1686)Cgc>Tgc	p.R562C	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.R562C|GNAS_ENST00000371102.4_Missense_Mutation_p.R562C|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000306120.3_Silent_p.A498A|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000603534.1_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGCGGCCGCCGCGTGTACTA	0.692000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			4	14					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134351242	134351242	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:134351242C>T	ENST00000357304.4	+	15	3781	c.3726C>T	c.(3724-3726)tcC>tcT	p.S1242S	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1242							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						ATGGCCCTTCCGACACATGCG	0.577000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	18					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821596	5821596	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:5821596C>T	ENST00000381095.3	-	5	1750	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K	NLGN4X_ENST00000381093.2_Missense_Mutation_p.E395K|NLGN4X_ENST00000381092.1_Missense_Mutation_p.E375K|NLGN4X_ENST00000538097.1_Missense_Mutation_p.E375K|NLGN4X_ENST00000275857.6_Missense_Mutation_p.E375K	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	375					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						TTCAGGCCTTCCCCTTGGTTG	0.582000													3	24					0	0	1	0	0
ASCL3	56676	broad.mit.edu	37	11	8959407	8959407	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:8959407C>T	ENST00000325884.1	-	2	361	c.302G>A	c.(301-303)cGg>cAg	p.R101Q	ASCL3_ENST00000531618.1_Missense_Mutation_p.R101Q	NM_020646.1	NP_065697.1	Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	100					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		CTGCCTTTCCCGCTCATTCCT	0.542000													10	43					0	0	1	0	0
TRIM38	10475	broad.mit.edu	37	6	25966938	25966938	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:25966938G>A	ENST00000357085.3	+	3	664	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	TRIM38_ENST00000349458.3_Missense_Mutation_p.R63Q	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	63					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CCCCAGTGTCGGGCTCCATTT	0.488000													23	65					0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41351977	41351977	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:41351977A>T	ENST00000301141.5	-	6	877	c.857T>A	c.(856-858)tTc>tAc	p.F286Y	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	286					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	TTTCAAGTAGAACTCCGTGTT	0.557000													12	38					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22969243	22969243	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:22969243C>T	ENST00000313077.7	+	22	2594	c.2469C>T	c.(2467-2469)gcC>gcT	p.A823A	CYFIP1_ENST00000435939.2_Silent_p.A392A|CYFIP1_ENST00000560848.1_Silent_p.A823A	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	823					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCTTCGACGCCATGTTCCGGG	0.597000													21	63					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304407	3304407	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:3304407G>A	ENST00000219596.1	-	2	700	c.661C>T	c.(661-663)Ccg>Tcg	p.P221S	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	221					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TTCTGCCCCGGGGCGCCCCCC	0.706000													14	34					0	0	1	0	0
SECTM1	6398	broad.mit.edu	37	17	80280143	80280143	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:80280143G>A	ENST00000269389.3	-	5	991	c.641C>T	c.(640-642)tCc>tTc	p.S214F	SECTM1_ENST00000580437.1_3'UTR	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	214					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GGTGGGCTCGGAGTCTGGGGT	0.627000													21	58					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38126600	38126600	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:38126600G>A	ENST00000261439.4	+	18	3335	c.2980G>A	c.(2980-2982)Gga>Aga	p.G994R	TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	994	Rab-GAP TBC.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TTTTCTTCAGGGAACAGAGGT	0.383000													14	33					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30517989	30517989	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:30517989C>T	ENST00000383096.3	-	23	2772	c.2590G>A	c.(2590-2592)Gaa>Aaa	p.E864K	CCDC178_ENST00000300227.8_Missense_Mutation_p.E826K|CCDC178_ENST00000581852.1_Missense_Mutation_p.E69K|CCDC178_ENST00000579916.1_Missense_Mutation_p.E184K|CCDC178_ENST00000583930.1_Missense_Mutation_p.E888K|CCDC178_ENST00000402325.1_Missense_Mutation_p.E814K|CCDC178_ENST00000403303.1_Missense_Mutation_p.E864K|CCDC178_ENST00000406524.2_Missense_Mutation_p.E888K|RP11-746B8.1_ENST00000580366.1_RNA					coiled-coil domain containing 178																		CCATCGTTTTCGCATGTGCCA	0.358000													22	24					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37041353	37041353	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:37041353C>T	ENST00000379242.3	+	16	2233	c.1931C>T	c.(1930-1932)gCc>gTc	p.A644V	VIT_ENST00000401530.1_Missense_Mutation_p.A608V|VIT_ENST00000497382.1_Missense_Mutation_p.A298V|VIT_ENST00000404084.1_Missense_Mutation_p.A581V|VIT_ENST00000379241.3_Missense_Mutation_p.A607V|VIT_ENST00000389975.3_Missense_Mutation_p.A629V	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	629	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ATAGGCGTTGCCTGGGCTGCC	0.512000													18	34					0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131528728	131528728	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:131528728G>A	ENST00000401867.1	-	16	2151	c.1583C>T	c.(1582-1584)cCt>cTt	p.P528L	P4HA2_ENST00000360568.3_Missense_Mutation_p.P526L|P4HA2_ENST00000379100.2_Missense_Mutation_p.P526L|P4HA2_ENST00000379104.2_Missense_Mutation_p.P528L|P4HA2_ENST00000379086.1_Missense_Mutation_p.P526L|P4HA2_ENST00000166534.4_Missense_Mutation_p.P528L			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	528						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TGATCCACAAGGTCTCAAGAA	0.448000													15	36					0	0	1	0	0
CCDC38	120935	broad.mit.edu	37	12	96292383	96292383	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:96292383G>A	ENST00000344280.3	-	6	1053	c.496C>T	c.(496-498)Cga>Tga	p.R166*	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	166										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCATTTTCTCGAAGGAACTCT	0.388000													58	29					0	0	1	0	0
ZUFSP	221302	broad.mit.edu	37	6	116973262	116973262	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:116973262G>A	ENST00000368576.3	-	6	1298	c.1055C>T	c.(1054-1056)tCt>tTt	p.S352F	ZUFSP_ENST00000368573.1_3'UTR|ZUFSP_ENST00000471919.1_5'UTR	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	352						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		GTCGCCTAAAGATGAATGAAA	0.383000													36	33					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	59					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109088034	109088034	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:109088034T>C	ENST00000309863.6	+	6	2963	c.2249T>C	c.(2248-2250)gTt>gCt	p.V750A		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	750					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AATGAGCAAGTTCAGAAGTTA	0.299000													29	45					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16021760	16021760	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:16021760C>T	ENST00000350896.3	-	5	828	c.630_splice	c.e5-1	p.E211_splice	MSR1_ENST00000445506.2_Splice_Site_p.E229_splice|MSR1_ENST00000536385.1_5'UTR|MSR1_ENST00000355282.2_Splice_Site_p.E211_splice|MSR1_ENST00000262101.5_Splice_Site_p.E211_splice|MSR1_ENST00000381998.4_Splice_Site_p.E211_splice	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	211					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTACTGATTTCCTGTAAAACA	0.328000													11	13					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32480540	32480540	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:32480540C>A	ENST00000266088.4	+	8	1029	c.779C>A	c.(778-780)gCc>gAc	p.A260D	SLC5A1_ENST00000543737.1_Missense_Mutation_p.A133D	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	260					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						ACTCCAAGGGCCGACTCCTTC	0.517000													7	44					3.09899e-07	3.14208e-07	1	1	0
LRRC30	339291	broad.mit.edu	37	18	7231409	7231409	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:7231409G>A	ENST00000383467.2	+	1	287	c.273G>A	c.(271-273)ggG>ggA	p.G91G		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	91										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCGAGGTGGGGAAACTGACCC	0.577000													10	30					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24795359	24795359	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:24795359G>A	ENST00000310677.4	-	13	1694	c.1581C>T	c.(1579-1581)ccC>ccT	p.P527P	ADCY4_ENST00000418030.2_Silent_p.P527P|ADCY4_ENST00000396747.3_Silent_p.P220P|ADCY4_ENST00000554068.2_Silent_p.P527P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	527					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|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CTAGTCCCCGGGGGGTACGGC	0.602000													13	29					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65788408	65788408	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:65788408G>A	ENST00000312106.5	-	6	1938	c.1801C>T	c.(1801-1803)Ctc>Ttc	p.L601F		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	601					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGTGCCCGGAGGACCGCGGAG	0.617000													17	50					0	0	1	0	0
SERP1	27230	broad.mit.edu	37	3	150263528	150263528	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:150263528C>T	ENST00000479209.1	-	3	1394	c.122G>A	c.(121-123)tGg>tAg	p.W41*	SERP1_ENST00000487153.1_Intron|SERP1_ENST00000239944.2_Nonsense_Mutation_p.W41*|SERP1_ENST00000491660.1_Nonsense_Mutation_p.W41*			Q9Y6X1	SERP1_HUMAN	stress-associated endoplasmic reticulum protein 1	41					plasma membrane organization|protein glycosylation|protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane|ribosome				large_intestine(1)|lung(3)	4			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGCCAATAACCAGGGTCCTAC	0.517000													4	6					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010865	59010865	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:59010865G>A	ENST00000263093.2	-	7	1770	c.1661C>T	c.(1660-1662)aCc>aTc	p.T554I	SLC27A5_ENST00000601355.1_Missense_Mutation_p.T470I	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GGACCGGAAGGTGTCCCCGAG	0.657000													5	37					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3141943	3141943	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:3141943C>T	ENST00000400569.3	-	14	2352	c.2019G>A	c.(2017-2019)gtG>gtA	p.V673V	MYOM1_ENST00000261606.7_Silent_p.V673V|MYOM1_ENST00000356443.4_Silent_p.V673V			P52179	MYOM1_HUMAN	myomesin 1	673	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTACCTTTTCCACAAAGTACA	0.512000													14	56					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161580111	161580111	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:161580111G>A	ENST00000356592.3	+	10	1625	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N	GABRG2_ENST00000414552.2_Missense_Mutation_p.D429N|GABRG2_ENST00000361925.4_Missense_Mutation_p.D381N|GABRG2_ENST00000393933.4_Missense_Mutation_p.D286N	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	381					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			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CCCTACCATTGATATCCGCCC	0.483000													26	47					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1579804	1579804	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:1579804G>A	ENST00000572621.1	-	15	2648	c.2383C>T	c.(2383-2385)Ctg>Ttg	p.L795L	PRPF8_ENST00000304992.6_Silent_p.L795L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	795						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCAACCTTCAGGTAGTTGTGC	0.582000													69	130					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155629	111155629	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:111155629C>T	ENST00000262839.2	-	3	1708	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	264					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.E264K(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATCTCCAGTTCCCTGGAGCTC	0.522000													51	119					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128522429	128522429	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:128522429G>A	ENST00000322313.4	-	6	757	c.599C>T	c.(598-600)gCa>gTa	p.A200V	WDR33_ENST00000393006.1_Missense_Mutation_p.A200V|WDR33_ENST00000409658.3_Missense_Mutation_p.A200V	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	200					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTCCTTATGTGCCTGGAACAT	0.413000													53	92					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32850603	32850603	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr13:32850603C>T	ENST00000380250.3	+	57	8785	c.8289C>T	c.(8287-8289)ctC>ctT	p.L2763L	FRY_ENST00000542859.1_Silent_p.L133L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GTCTTTAGCTCCTTTCATGTG	0.383000													19	42					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128392192	128392192	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:128392192G>A	ENST00000389524.4	+	41	5625	c.5572G>A	c.(5572-5574)Gac>Aac	p.D1858N	MYO7B_ENST00000409816.2_Missense_Mutation_p.D1857N|MYO7B_ENST00000409090.1_Missense_Mutation_p.D710N|MYO7B_ENST00000428314.1_Missense_Mutation_p.D1857N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1857	FERM 2.|MyTH4 3.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GAAGGAGGGAGACTTCTTCTT	0.582000													3	9					0	0	1	0	0
ECH1	1891	broad.mit.edu	37	19	39308216	39308216	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:39308216C>T	ENST00000221418.4	-	4	582		c.e4-1		AC104534.3_ENST00000594769.1_Splice_Site	NM_001398.2	NP_001389.2			enoyl CoA hydratase 1, peroxisomal											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AGGTCAATACCTGGTGAGAAG	0.567000													9	9					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1842561	1842561	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:1842561A>C	ENST00000518288.1	+	14	1501	c.1338A>C	c.(1336-1338)caA>caC	p.Q446H	ARHGEF10_ENST00000398560.1_Missense_Mutation_p.Q407H|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.Q446H|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.Q421H|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.Q383H|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.Q446H			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	446	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGTCTTAGCAATATGAGAAGC	0.498000													16	30					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6094773	6094773	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:6094773C>T	ENST00000261405.5	-	39	7111	c.6857G>A	c.(6856-6858)gGg>gAg	p.G2286E		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2286	VWFC 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GACCTTCCGCCCGCTGAGGCA	0.622000													18	26					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8449901	8449901	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:8449901G>A	ENST00000360416.3	-	12	1377	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V	MYH10_ENST00000269243.4_Silent_p.V403V|MYH10_ENST00000396239.1_Silent_p.V403V|MYH10_ENST00000379980.4_Silent_p.V419V	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	403	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AGTCTCGGCCGACCTTGATCC	0.463000													12	28					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11015073	11015073	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:11015073G>A	ENST00000377004.4	-	9	948	c.949C>T	c.(949-951)Ccg>Tcg	p.P317S	C1orf127_ENST00000377008.4_Missense_Mutation_p.P150S	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	168										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCGGCCGCCGGAATGCTGACC	0.557000													23	23					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49831844	49831844	+	RNA	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:49831844C>T	ENST00000527477.1	+	0	2069																											CCCTTTATCCCATAAAGCCCT	0.388000													17	105					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65909227	65909227	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:65909227T>C	ENST00000321892.4	+	13	5666	c.5605T>C	c.(5605-5607)Ttt>Ctt	p.F1869L	BPTF_ENST00000424123.3_Missense_Mutation_p.F1730L|BPTF_ENST00000306378.6_Missense_Mutation_p.F1743L|BPTF_ENST00000335221.5_Missense_Mutation_p.F1869L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1869					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGTCCCTTATTTTAATTACAA	0.383000													16	126					0	0	1	0	0
ASAH1	427	broad.mit.edu	37	8	17920722	17920722	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:17920722T>C	ENST00000262097.6	-	7	786	c.475A>G	c.(475-477)Aga>Gga	p.R159G	ASAH1_ENST00000314146.10_Missense_Mutation_p.R153G|ASAH1_ENST00000520781.1_Missense_Mutation_p.R134G|ASAH1_ENST00000381733.4_Missense_Mutation_p.R175G|ASAH1_ENST00000417108.2_Missense_Mutation_p.R69G	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	159					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TCCATGTTTCTCCCATGTATT	0.388000													107	204					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412038	51412038	+	Missense_Mutation	SNP	G	G	A	rs141762692		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:51412038G>A	ENST00000319760.6	-	1	410	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GCCACATAGCGATCACAGGCC	0.468000													18	51					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179620128	179620128	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:179620128G>A	ENST00000444136.1	+	12	2177	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	TDRD5_ENST00000367614.1_Missense_Mutation_p.E643K|TDRD5_ENST00000294848.8_Missense_Mutation_p.E643K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	643					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATCCTCAAACGAAGATGTCTA	0.413000													27	58					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236018	42236018	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:42236018C>T	ENST00000541110.1	-	5	1879	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A	TRERF1_ENST00000340840.2_Silent_p.A437A|TRERF1_ENST00000372917.4_Silent_p.A437A|TRERF1_ENST00000354325.2_Silent_p.A437A|TRERF1_ENST00000372922.4_Silent_p.A437A			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	437					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GATCTGAGCTCGCTGGGTCTC	0.627000													121	47					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144943684	144943684	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:144943684G>A	ENST00000525985.1	-	2	3809	c.3738C>T	c.(3736-3738)ggC>ggT	p.G1246G				P58107	EPIPL_HUMAN	epiplakin 1	1246						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGCCACGCAGCCTGTGCCCC	0.721000													7	7					0	0	1	0	0
LOC442028	442028	broad.mit.edu	37	2	95552633	95552633	+	RNA	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:95552633C>T	ENST00000568768.1	-	0	476																											AGCCAAAAATCCATCTTCTGT	0.343000													4	20					0	0	1	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95109925	95109925	+	RNA	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:95109925G>A	ENST00000469935.1	+	0	962					NR_015340.1																						CTTCCTGCACGACCGTGAGCT	0.582000													22	14					0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1690839	1690839	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:1690839G>A	ENST00000305513.7	-	6	1764	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	533	SET.						zinc ion binding	p.P533S(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CTGATAACAGGGAAGATGCCT	0.557000													3	4					0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8873373	8873373	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:8873373G>A	ENST00000396600.2	+	15	2245	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	ABAT_ENST00000268251.8_Missense_Mutation_p.R436Q|ABAT_ENST00000569156.1_Missense_Mutation_p.R436Q|ABAT_ENST00000425191.2_Missense_Mutation_p.R436Q|ABAT_ENST00000567812.1_Missense_Mutation_p.R451Q	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	436					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GTGAGAGGACGAGGCACCTTT	0.532000													14	28					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48275130	48275130	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:48275130C>T	ENST00000225964.5	-	9	777	c.659G>A	c.(658-660)cGa>cAa	p.R220Q		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	220	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TGGGGGACCTCGGGGACCCAT	0.507000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						33	64					0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7847435	7847435	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:7847435G>A	ENST00000328375.1	-	1	84	c.85C>T	c.(85-87)Ctt>Ttt	p.L29F	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAAACACAAGAAATAAAATA	0.358000													23	62					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7880488	7880488	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:7880488C>T	ENST00000283147.6	+	7	1613	c.1454C>T	c.(1453-1455)gCc>gTc	p.A485V		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	485					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					AAGCTAAATGCCATCTCGGTT	0.438000													79	189					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918540	51918540	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:51918540C>T	ENST00000353836.5	-	7	1446	c.1225G>A	c.(1225-1227)Gtc>Atc	p.V409I	SIGLEC10_ENST00000442846.3_Missense_Mutation_p.V261I|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.V326I|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.V351I|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.V409I|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.V319I|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.V409I|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.V361I|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.V351I	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	409	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGCTCCAGGACCCCGGGGTCT	0.667000													18	60					0	0	1	0	0
GNB2	2783	broad.mit.edu	37	7	100276358	100276358	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:100276358G>A	ENST00000303210.4	+	10	1439	c.957G>A	c.(955-957)ggG>ggA	p.G319G	GNB2_ENST00000393924.1_Silent_p.G319G|GNB2_ENST00000419828.1_Silent_p.G219G|GNB2_ENST00000424361.1_Silent_p.G275G|GNB2_ENST00000393926.1_Silent_p.G319G|GNB2_ENST00000436220.1_Silent_p.G275G|GNB2_ENST00000427895.1_Silent_p.G219G	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	319					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				GCTGCCTCGGGGTCACCGACG	0.652000													15	41					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87967440	87967440	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:87967440A>T	ENST00000369577.3	+	8	4136	c.4093A>T	c.(4093-4095)Aaa>Taa	p.K1365*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.K1360*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1365					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)		CAAAAGGGCTAAATGGCCTGC	0.463000													8	5					0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16942392	16942392	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:16942392C>T	ENST00000379803.1	+	3	329	c.315C>T	c.(313-315)ccC>ccT	p.P105P	SIN3B_ENST00000248054.5_Silent_p.P105P|SIN3B_ENST00000596802.1_Silent_p.P105P	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	105	Interaction with REST (By similarity).|PAH 1.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTTTTCTTCCCCTCGGATATA	0.488000													42	82					0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7242295	7242295	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:7242295C>T	ENST00000542285.1	-	4	605	c.456G>A	c.(454-456)ggG>ggA	p.G152G				P00736	C1R_HUMAN	complement component 1, r subcomponent	153	EGF-like; calcium-binding (Potential).		S -> L (common polymorphism; dbSNP:rs1801046).		complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GATCCTCCTCCCCTGATTTGC	0.552000													25	55					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20500609	20500609	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:20500609G>A	ENST00000377252.3	+	10	1914	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.G309E	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	358	PSI.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TGTTCCAGTGGATTTGATCGT	0.448000													12	26					0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	28997699	28997699	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:28997699G>A	ENST00000524189.1	-	21	2532	c.2494C>T	c.(2494-2496)Cgg>Tgg	p.R832W	CTD-2647L4.1_ENST00000523661.1_RNA|CTD-2647L4.1_ENST00000517632.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	832					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ACGTGCAGCCGACCTGCCACC	0.542000													10	17					0	0	1	0	0
TTC33	23548	broad.mit.edu	37	5	40716594	40716594	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:40716594G>A	ENST00000337702.4	-	5	594	c.442C>T	c.(442-444)Cga>Tga	p.R148*	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	148							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TGAAAACTTCGAATTGCCTAG	0.373000													32	61					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31308909	31308909	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:31308909C>T	ENST00000544665.3	+	13	1502	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	ITGAM_ENST00000287497.8_Silent_p.I477I	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	477					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.I477I(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TGGTCCTCATCGGGGCCCCCC	0.667000													63	94					0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138518031	138518031	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:138518031C>T	ENST00000371763.1	-	4	394	c.141G>A	c.(139-141)acG>acA	p.T47T		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	47					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AGTCTGTTTTCGTTATAACAT	0.527000													29	66					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27445118	27445118	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:27445118G>A	ENST00000527372.1	-	10	2163	c.1983C>T	c.(1981-1983)gcC>gcT	p.A661A	MYO18A_ENST00000354329.4_Silent_p.A661A|MYO18A_ENST00000533112.1_Silent_p.A661A|MYO18A_ENST00000531253.1_Silent_p.A661A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	661	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGAACCAGCAGGCCTTCTGTT	0.597000													3	2					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94006393	94006393	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:94006393C>T	ENST00000282020.4	+	3	750	c.492C>T	c.(490-492)gcC>gcT	p.A164A	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	164					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CAGAGTATGCCTGGCAGAAAT	0.393000													22	67					0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5701270	5701270	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:5701270G>A	ENST00000305836.5	-	2	440	c.138C>T	c.(136-138)tcC>tcT	p.S46S	TRIM5_ENST00000396853.4_Silent_p.S46S|TRIM5_ENST00000380034.3_Silent_p.S46S|TRIM5_ENST00000396855.3_Silent_p.S46S|TRIM5_ENST00000380027.1_Silent_p.S46S|TRIM5_ENST00000396847.3_Silent_p.S46S			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	46					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TGTCTAGCATGGACTTCTTGT	0.557000													28	78					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615969	179615969	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:179615969G>A	ENST00000360870.5	-	46	11380	c.11158C>T	c.(11158-11160)Ctt>Ttt	p.L3720F	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9566							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L3720I(1)		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)			GTATCTAAAAGAGATAATTTC	0.353000													11	28					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15296072	15296072	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:15296072G>A	ENST00000263388.2	-	14	2367	c.2292C>T	c.(2290-2292)gtC>gtT	p.V764V		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	764	EGF-like 19.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACACACCCTGGACACCAGGCG	0.612000													26	42					0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4348419	4348419	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:4348419C>T	ENST00000355530.2	+	3	638	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L	SPNS3_ENST00000333476.2_Intron|SPNS3_ENST00000576069.1_Intron	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	120					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CGGTATCTTGCTGTGGTCAGG	0.612000													38	80					0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665077	6665077	+	Missense_Mutation	SNP	G	G	C	rs138896705		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:6665077G>C	ENST00000326176.9	-	5	856	c.475C>G	c.(475-477)Cgg>Ggg	p.R159G	TNFSF14_ENST00000245912.3_Missense_Mutation_p.R159G|TNFSF14_ENST00000599359.1_Missense_Mutation_p.R195G	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	195					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CACCAGACCCGGGAGCTGCTG	0.662000													18	32					0	0	1	0	0
WDR77	79084	broad.mit.edu	37	1	111991257	111991257	+	Silent	SNP	T	T	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:111991257T>A	ENST00000235090.5	-	2	491	c.285A>T	c.(283-285)ctA>ctT	p.L95L	WDR77_ENST00000411751.2_Silent_p.L95L	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	95					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGGAGGCCACTAGAATACCTC	0.597000													25	20					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51291441	51291441	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:51291441C>T	ENST00000261842.5	+	19	3183	c.3077C>T	c.(3076-3078)tCa>tTa	p.S1026L	AP4E1_ENST00000561397.1_Intron|AP4E1_ENST00000560508.1_Missense_Mutation_p.S951L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1026					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GTAAACTTATCACTATTAGAT	0.313000													8	8					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81112769	81112769	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:81112769C>T	ENST00000228644.3	+	3	859	c.707C>T	c.(706-708)aCc>aTc	p.T236I		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	236					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.T236N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GTTGCCAGCACCGATTCACAG	0.507000													57	29					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24924230	24924230	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:24924230G>A	ENST00000329468.2	+	1	3690	c.3216G>A	c.(3214-3216)ggG>ggA	p.G1072G		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CACCACAAGGGGCTAGCAACA	0.542000													27	50					0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3823270	3823270	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:3823270G>A	ENST00000262961.4	-	8	1355	c.1345C>T	c.(1345-1347)Ccg>Tcg	p.P449S		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	449						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GGGCCCACCGGCTGCGCATCA	0.617000													27	104					0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	127983613	127983613	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:127983613C>T	ENST00000254730.6	+	4	829	c.775C>T	c.(775-777)Cct>Tct	p.P259S	EEFSEC_ENST00000483457.1_Intron	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	259						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TGTGGAGATCCCTGCCCTCAA	0.572000													20	23					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30033920	30033920	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:30033920G>A	ENST00000328224.6	-	2	1539	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	102						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						AGCAATGAGGGAAGCTGCTCT	0.602000													12	28					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831288	61831288	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:61831288G>A	ENST00000280772.1	-	37	9542	c.9351C>T	c.(9349-9351)atC>atT	p.I3117I	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3117			I -> V (in dbSNP:rs28932171).		establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTGACTTATGATTTTTTTTA	0.403000													50	86					0	0	1	0	0
EXOSC4	54512	broad.mit.edu	37	8	145135312	145135312	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:145135312C>T	ENST00000525936.1	+	3	499	c.418C>T	c.(418-420)Ccc>Tcc	p.P140S	EXOSC4_ENST00000316052.5_Silent_p.G182G			Q9NPD3	EXOS4_HUMAN	exosome component 4	0					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-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;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCTGGTGGCCCCCAGCTGG	0.657000													24	46					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10672748	10672748	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:10672748C>T	ENST00000302079.6	-	50	7755	c.7756G>A	c.(7756-7758)Gaa>Aaa	p.E2586K	PIEZO2_ENST00000580640.1_Missense_Mutation_p.E2674K|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000503781.3_Missense_Mutation_p.E2649K|PIEZO2_ENST00000285141.4_Missense_Mutation_p.E441K|PIEZO2_ENST00000538948.1_Missense_Mutation_p.E606K			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2649						integral to membrane	ion channel activity										ACCACCAGTTCCAGGGCCTGA	0.448000													34	34					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79343054	79343054	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:79343054C>T	ENST00000264895.6	+	34	5018	c.4578C>T	c.(4576-4578)atC>atT	p.I1526I	FRAS1_ENST00000325942.6_Silent_p.I1526I	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1525					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTCTCCTATCCGGTATTTCA	0.542000													82	129					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14745865	14745865	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:14745865G>A	ENST00000253697.3	+	7	1352	c.900G>A	c.(898-900)tgG>tgA	p.W300*	C3orf20_ENST00000435614.1_Nonsense_Mutation_p.W178*|C3orf20_ENST00000412910.1_Nonsense_Mutation_p.W178*|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	300						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GGGCCACATGGAAAGGGAGGA	0.502000													20	38					0	0	1	0	0
HOGA1	112817	broad.mit.edu	37	10	99344520	99344520	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:99344520G>A	ENST00000370646.4	+	1	421	c.60G>A	c.(58-60)agG>agA	p.R20R	PI4K2A_ENST00000370649.3_Silent_p.R20R|PI4K2A_ENST00000555577.1_Silent_p.R20R|HOGA1_ENST00000370647.4_Silent_p.R20R	NM_138413.3	NP_612422.2			4-hydroxy-2-oxoglutarate aldolase 1											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						GCTTGTCCAGGAATGTGGGGG	0.597000													17	123					0	0	1	0	0
PDLIM1	9124	broad.mit.edu	37	10	97031403	97031403	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:97031403G>T	ENST00000329399.6	-	2	343	c.235C>A	c.(235-237)Ctc>Atc	p.L79I	PDLIM1_ENST00000477757.1_Intron	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	79	PDZ.				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GCTACAGTGAGAGTCAAGTTG	0.448000													55	135					2.89935e-36	3.00036e-36	1	1	0
HSF1	3297	broad.mit.edu	37	8	145533233	145533233	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:145533233G>A	ENST00000528838.1	+	3	479	c.319G>A	c.(319-321)Ggc>Agc	p.G107S	HSF1_ENST00000400780.4_Missense_Mutation_p.G42S	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	107						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CTTCCTGCGTGGCCAGGAGCA	0.622000													28	51					0	0	1	0	0
STIM1	6786	broad.mit.edu	37	11	4104571	4104571	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:4104571C>T	ENST00000300737.4	+	10	1886	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	STIM1_ENST00000533977.1_Silent_p.F266F|STIM1_ENST00000527651.1_Silent_p.F439F	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	439					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TCTGTGGCTTCCAGATTGTCA	0.577000													20	43					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62734131	62734131	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:62734131G>A	ENST00000371153.4	-	5	2437	c.2059C>T	c.(2059-2061)Cca>Tca	p.P687S	KANK4_ENST00000371150.1_Missense_Mutation_p.P43S|KANK4_ENST00000354381.3_Missense_Mutation_p.P59S	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	687										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AAGTCCTCTGGGGTGCTGTCC	0.567000													27	14					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218948	130218948	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:130218948G>A	ENST00000276211.5	+	7	1210	c.865G>A	c.(865-867)Gat>Aat	p.D289N	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.D153N|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.D277N	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	289	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GAATGTGCATGATGTGGCTGC	0.488000													38	81					0	0	1	0	0
TKT	7086	broad.mit.edu	37	3	53262348	53262348	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:53262348G>A	ENST00000462138.1	-	11	1511	c.1423C>T	c.(1423-1425)Cca>Tca	p.P475S	TKT_ENST00000461139.1_5'UTR|TKT_ENST00000296289.6_Missense_Mutation_p.P428S|TKT_ENST00000423525.2_Missense_Mutation_p.P475S|TKT_ENST00000423516.1_Missense_Mutation_p.P483S			P29401	TKT_HUMAN	transketolase	475					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	GCATTTTCTGGGCGGCTGGTC	0.542000													30	55					0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10584016	10584016	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:10584016G>A	ENST00000304501.1	-	2	477	c.399C>T	c.(397-399)ttC>ttT	p.F133F	SOX7_ENST00000554914.1_Silent_p.F185F|SOX7_ENST00000553390.1_Silent_p.F185F	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	133					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		AGCTCAGAAGGAAGCCCGGGT	0.677000													9	26					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433738	72433738	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:72433738C>T	ENST00000373517.3	-	1	946	c.591G>A	c.(589-591)gtG>gtA	p.V197V	NAP1L2_ENST00000536638.1_Silent_p.V55V	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	197	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CGTCCTCATCCACATATTCAT	0.433000													12	23					0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66099995	66099995	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:66099995G>A	ENST00000311320.4	-	10	2230	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C	RIN1_ENST00000530056.1_Missense_Mutation_p.R536C|RIN1_ENST00000424433.2_Intron	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	702	Ras and 14-3-3 protein binding region.|Ras-associating.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCCGCCCGGCGGTAGACGAGG	0.672000													72	121					0	0	1	0	0
CH25H	9023	broad.mit.edu	37	10	90966332	90966332	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:90966332C>T	ENST00000371852.2	-	1	739	c.718G>A	c.(718-720)Gac>Aac	p.D240N		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	240					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		TGATGCAGGTCGTGGTGCACC	0.572000													11	25					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14766139	14766139	+	Missense_Mutation	SNP	T	T	C	rs35617837		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:14766139T>C	ENST00000261170.3	-	27	3270	c.3134A>G	c.(3133-3135)cAa>cGa	p.Q1045R	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1045			Q -> R (in dbSNP:rs35617837).		intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TCTGGGTTTTTGGCTTCTTAT	0.438000													138	129					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20766564	20766564	+	Missense_Mutation	SNP	C	C	T	rs143792143		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:20766564C>T	ENST00000359062.3	+	3	1239	c.1199C>T	c.(1198-1200)tCg>tTg	p.S400L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	400					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.S400L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCCGTCACTTCGCTCAGTGAA	0.488000													48	43					0	0	1	0	0
CDADC1	81602	broad.mit.edu	37	13	49852569	49852569	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr13:49852569C>T	ENST00000251108.6	+	7	1247	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	CDADC1_ENST00000444959.1_Silent_p.F180F	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	378							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		ATGCTGACTTCCCACACATGG	0.413000													72	105					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153073973	153073973	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:153073973C>T	ENST00000164640.4	-	2	329	c.138G>A	c.(136-138)gtG>gtA	p.V46V	PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	46						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCACCTGGATCACCAGGGGCT	0.652000													3	20					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42492256	42492256	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:42492256G>A	ENST00000545399.1	-	4	381	c.228C>T	c.(226-228)gcC>gcT	p.A76A	ATP1A3_ENST00000302102.5_Silent_p.A63A|ATP1A3_ENST00000602133.1_Silent_p.A33A|ATP1A3_ENST00000543770.1_Silent_p.A74A|ATP1A3_ENST00000468774.2_5'UTR	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	63					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCCCATCCCGGGCCAGGATCT	0.637000													24	47					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235922707	235922707	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:235922707G>C	ENST00000389794.3	-	23	6620	c.6446C>G	c.(6445-6447)tCt>tGt	p.S2149C	LYST_ENST00000389793.2_Missense_Mutation_p.S2149C|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2149					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ACTCCCCAAAGAATTTTGTTT	0.408000													32	62					0	0	1	0	0
COIL	8161	broad.mit.edu	37	17	55027863	55027863	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:55027863G>A	ENST00000240316.4	-	2	774	c.740C>T	c.(739-741)tCc>tTc	p.S247F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	247	2 X 4 AA repeats of A-R-N-S.|Ser/Thr-rich.					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					AGACTCCGAGGAGGAACTGGG	0.433000													31	73					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128270	83128270	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:83128270C>T	ENST00000329312.4	+	4	591	c.554C>T	c.(553-555)tCc>tTc	p.S185F		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	185					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AATCCAGAATCCCAAAATTCT	0.313000													6	31					0	0	1	0	0
CHRNA6	8973	broad.mit.edu	37	8	42608352	42608352	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:42608352C>T	ENST00000276410.2	-	6	1810	c.1455G>A	c.(1453-1455)caG>caA	p.Q485Q	CHRNA6_ENST00000534622.1_Silent_p.Q470Q	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	485						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CAAGTAGTGGCTGTAGAAATA	0.378000													61	112					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48677424	48677424	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:48677424C>T	ENST00000544264.1	-	35	9889	c.9609G>A	c.(9607-9609)tcG>tcA	p.S3203S	CELSR3_ENST00000164024.4_Silent_p.S3198S			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3198					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCGAGAGTTCGAGCTCCTAG	0.662000													10	32					0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24839795	24839795	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:24839795C>T	ENST00000413692.2	+	3	1524	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	NFATC4_ENST00000539237.2_Silent_p.I429I|NFATC4_ENST00000557451.1_Silent_p.I327I|NFATC4_ENST00000556279.1_Silent_p.I429I|NFATC4_ENST00000554966.1_Silent_p.I410I|NFATC4_ENST00000424781.2_Silent_p.I410I|NFATC4_ENST00000556169.1_Silent_p.I385I|NFATC4_ENST00000553469.1_Silent_p.I429I|NFATC4_ENST00000554344.1_Silent_p.I327I|NFATC4_ENST00000422617.3_Silent_p.I385I|NFATC4_ENST00000553708.1_Silent_p.I397I|NFATC4_ENST00000554591.1_Silent_p.I460I|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554661.1_Silent_p.I327I|NFATC4_ENST00000250373.4_Silent_p.I397I|NFATC4_ENST00000555453.1_Silent_p.I385I|NFATC4_ENST00000553879.1_Silent_p.I327I|NFATC4_ENST00000554050.1_Silent_p.I397I|NFATC4_ENST00000555590.1_Silent_p.I410I	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	397	RHD.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		ACAGCCCTATCTTCAGGTGAG	0.602000													9	31					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37252991	37252991	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:37252991G>A	ENST00000310758.4	-	12	1550	c.903C>T	c.(901-903)acC>acT	p.T301T	ELMO1_ENST00000442504.1_Silent_p.T301T|ELMO1_ENST00000448602.1_Silent_p.T301T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	301					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGAGGTTAAAGGTGAGCACTT	0.498000													15	36					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84442363	84442363	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:84442363G>A	ENST00000286744.5	+	4	502	c.278G>A	c.(277-279)gGa>gAa	p.G93E	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G93E	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	93	TSP type-1 1.					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)			ACCTGTGGGGGAGGAGCATCA	0.522000													10	25					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27777647	27777647	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:27777647A>G	ENST00000261588.4	+	20	3846	c.3827A>G	c.(3826-3828)aAc>aGc	p.N1276S		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1276										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GATGGCACCAACATCACCATG	0.652000													23	52					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995639	57995639	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:57995639C>T	ENST00000316770.2	-	1	751	c.709G>A	c.(709-711)Gag>Aag	p.E237K		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CGGCGGCCCTCGGCAGAACGG	0.627000													32	36					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10114253	10114253	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:10114253G>A	ENST00000264828.3	-	6	922	c.837C>T	c.(835-837)tcC>tcT	p.S279S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	279	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGTTCTCTGCGGAGTCAGGAG	0.542000											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	68					0	0	1	0	0
RDH12	145226	broad.mit.edu	37	14	68191250	68191250	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:68191250G>A	ENST00000551171.1	+	4	453	c.129G>A	c.(127-129)gtG>gtA	p.V43V	RDH12_ENST00000539142.1_Silent_p.V43V|RDH12_ENST00000267502.3_Silent_p.V43V	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	43					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	AGGTAGTGGTGATCACTGGCG	0.542000													24	65					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													6	35					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160035579	160035579	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:160035579G>A	ENST00000263635.6	+	14	2652	c.2415G>A	c.(2413-2415)agG>agA	p.R805R	TANC1_ENST00000454300.1_Silent_p.R699R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	805						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCATTAAGAGGCGAGACAAAA	0.562000													13	115					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97851721	97851721	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:97851721G>A	ENST00000447648.2	-	22	3340	c.3041C>T	c.(3040-3042)tCc>tTc	p.S1014F	TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Missense_Mutation_p.S1016F			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1014						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGGGTACACGGATCCCCGGTA	0.667000													10	8					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3030235	3030235	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:3030235C>T	ENST00000381127.1	+	11	1632	c.1411C>T	c.(1411-1413)Cac>Tac	p.H471Y	ARSF_ENST00000359361.2_Missense_Mutation_p.H471Y|ARSF_ENST00000537104.1_Missense_Mutation_p.H471Y	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	471						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGGAAGGCTCACTATGTGAC	0.507000													23	59					0	0	1	0	0
CLCC1	23155	broad.mit.edu	37	1	109477459	109477459	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:109477459C>T	ENST00000369971.2	-	11	1618	c.1489G>A	c.(1489-1491)Gtc>Atc	p.V497I	AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000415331.1_Missense_Mutation_p.V447I|CLCC1_ENST00000369968.2_Missense_Mutation_p.V312I|CLCC1_ENST00000369969.2_Missense_Mutation_p.V376I|CLCC1_ENST00000369970.3_Missense_Mutation_p.V447I|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.V497I|CLCC1_ENST00000348264.2_Missense_Mutation_p.V312I|CLCC1_ENST00000302500.4_Missense_Mutation_p.V376I	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	497						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		TGGCCAGAGACAGGCTTGGCC	0.562000													49	28					0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28497800	28497800	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:28497800G>A	ENST00000569430.1	-	10	1364	c.545C>T	c.(544-546)tCc>tTc	p.S182F	CLN3_ENST00000395653.4_Missense_Mutation_p.S82F|CLN3_ENST00000565316.1_Missense_Mutation_p.S182F|CLN3_ENST00000354630.5_Missense_Mutation_p.S182F|CLN3_ENST00000355477.5_Intron|CLN3_ENST00000535392.1_Missense_Mutation_p.S104F|CLN3_ENST00000359984.7_Missense_Mutation_p.S182F|CLN3_ENST00000360019.2_Missense_Mutation_p.S182F|CLN3_ENST00000333496.9_Missense_Mutation_p.S158F|CLN3_ENST00000567963.1_Missense_Mutation_p.S182F|CLN3_ENST00000357076.5_Intron|CLN3_ENST00000357857.9_Missense_Mutation_p.S128F|CLN3_ENST00000357806.7_Intron|CLN3_ENST00000568224.1_Missense_Mutation_p.S104F			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	182					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GGACCACCAGGAGATCACGGC	0.657000													11	12					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42058882	42058882	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:42058882C>T	ENST00000219905.7	+	24	8783	c.8602C>T	c.(8602-8604)Cct>Tct	p.P2868S	MGA_ENST00000570161.1_Missense_Mutation_p.P2868S|MGA_ENST00000389936.4_Missense_Mutation_p.P2829S|MGA_ENST00000566586.1_Missense_Mutation_p.P2659S|MGA_ENST00000545763.1_Missense_Mutation_p.P2659S	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2829						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TAGTAAGGTTCCTCCTGGAAG	0.498000													45	74					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96012146	96012146	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:96012146G>A	ENST00000260766.3	+	9	3804	c.3170G>A	c.(3169-3171)cGa>cAa	p.R1057Q	PLCE1_ENST00000371385.3_Missense_Mutation_p.R749Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.R749Q|PLCE1_ENST00000371380.2_Missense_Mutation_p.R1057Q	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1057					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGGAGTGCTCGAAACCCCAGC	0.502000													22	44					0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33068879	33068879	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:33068879G>A	ENST00000397149.3	-	4	494	c.444C>T	c.(442-444)gcC>gcT	p.A148A	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	148						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CGCCAGCTAAGGCCTGGGCAA	0.502000													9	18					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130427306	130427306	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:130427306G>A	ENST00000356763.3	-	10	2919	c.2362C>T	c.(2362-2364)Ctg>Ttg	p.L788L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	788					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTCAGTGCCAGAAGTTTGTCT	0.348000													24	42					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921866	24921866	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:24921866G>A	ENST00000329468.2	+	1	1326	c.852G>A	c.(850-852)gaG>gaA	p.E284E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGAATGAAGAGCCACCGCCCA	0.592000													18	34					0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17890585	17890585	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:17890585G>A	ENST00000409389.1	-	10	1012	c.840C>T	c.(838-840)atC>atT	p.I280I	SNX13_ENST00000428135.3_Silent_p.I280I			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	280	PXA.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TAGAATCACGGATCTGAAAAC	0.378000													4	10					0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53525209	53525209	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:53525209G>A	ENST00000357758.3	-	9	2161	c.1978C>T	c.(1978-1980)Cct>Tct	p.P660S	DDHD1_ENST00000395606.1_Missense_Mutation_p.P667S|DDHD1_ENST00000323669.5_Missense_Mutation_p.P660S	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	660	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GGATCTGTAGGATGAAAAATA	0.408000													11	98					0	0	1	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106692132	106692132	+	RNA	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:106692132C>T	ENST00000390607.2	-	0	71																											CATGGTGAATCCTCGGTGCTC	0.498000													27	67					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133174954	133174954	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:133174954C>T	ENST00000329321.3	+	1	808	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	113						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCACACTTTCCTCTTCGAGG	0.562000													24	43					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32187921	32187921	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:32187921C>T	ENST00000375023.3	-	7	1438	c.1300G>A	c.(1300-1302)Gac>Aac	p.D434N		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	434	EGF-like 11; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGACACTCGTCCAGGTCCTGG	0.597000													17	65					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176523630	176523630	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:176523630G>A	ENST00000292408.4	+	16	2286	c.2041G>A	c.(2041-2043)Gag>Aag	p.E681K	FGFR4_ENST00000502906.1_Missense_Mutation_p.E681K|FGFR4_ENST00000393637.1_Missense_Mutation_p.E641K|FGFR4_ENST00000393648.2_Missense_Mutation_p.E613K|FGFR4_ENST00000292410.3_Missense_Mutation_p.E641K	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	681	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	p.E681K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CCTGCTATGGGAGATCTTCAC	0.667000										TSP Lung(9;0.080)			13	16					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164537	139164537	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:139164537G>A	ENST00000395297.1	-	13	2351	c.2181C>T	c.(2179-2181)tcC>tcT	p.S727S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	727										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)			CACCCTCTAGGGAGTTCCGGT	0.567000										HNSCC(54;0.14)			7	26					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11784563	11784563	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:11784563C>T	ENST00000262442.3	+	55	10707	c.10639C>T	c.(10639-10641)Ccc>Tcc	p.P3547S	DNAH9_ENST00000454412.2_Missense_Mutation_p.P3547S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3547	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAATACAATCCCAAGTTCCG	0.488000													32	48					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77412442	77412442	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:77412442G>A	ENST00000308488.6	-	6	2134	c.1832C>T	c.(1831-1833)cCa>cTa	p.P611L	RSF1_ENST00000480887.1_Missense_Mutation_p.P359L|RSF1_ENST00000360355.2_Missense_Mutation_p.P580L			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	611					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AGTACTCTTTGGAACTTCTTC	0.428000													43	82					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19443774	19443774	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:19443774C>T	ENST00000338883.4	-	9	1313	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G	MAP3K15_ENST00000469203.2_Silent_p.G270G|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	438							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCTCCAAGCTCCCTTTTCTTC	0.443000													10	19					0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10823691	10823691	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:10823691G>A	ENST00000526148.1	-	13	1714	c.1204C>T	c.(1204-1206)Cgt>Tgt	p.R402C	EIF4G2_ENST00000525681.1_Missense_Mutation_p.R402C|EIF4G2_ENST00000396525.2_Missense_Mutation_p.R402C|EIF4G2_ENST00000339995.5_Missense_Mutation_p.R402C	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	402					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGATTTGAACGATGACGTCCC	0.453000													21	51					0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8732089	8732089	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:8732089C>T	ENST00000311434.9	-	11	1347	c.1108G>A	c.(1108-1110)Ggg>Agg	p.G370R	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	370					platelet activation	cytosol											TTGATGCCCCCTTTGCGCTGC	0.692000													5	13					0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77475254	77475254	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:77475254C>T	ENST00000299543.7	+	8	1941	c.1794C>T	c.(1792-1794)gtC>gtT	p.V598V	CTDP1_ENST00000075430.7_Silent_p.V598V	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	598					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		AGATCCTGGTCCGTGTACACA	0.587000													3	10					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16378885	16378885	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:16378885G>A	ENST00000375679.4	+	15	1712	c.1601G>A	c.(1600-1602)cGg>cAg	p.R534Q	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R365Q	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TACCTGCCACGGATTCTGGGC	0.597000													10	14					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	17					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4808358	4808358	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:4808358G>A	ENST00000302640.8	+	44	5994	c.5644G>A	c.(5644-5646)Gat>Aat	p.D1882N	ITPR1_ENST00000456211.2_Missense_Mutation_p.D1834N|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.D1849N|ITPR1_ENST00000443694.2_Missense_Mutation_p.D1882N|ITPR1_ENST00000357086.4_Missense_Mutation_p.D1849N|ITPR1_ENST00000354582.6_Missense_Mutation_p.D1882N	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1897					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AAAGAAAGACGATGAGGTAGA	0.438000													12	30					0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30738490	30738490	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:30738490C>T	ENST00000217315.5	+	11	1442	c.1102C>T	c.(1102-1104)Ctc>Ttc	p.L368F	TM9SF4_ENST00000398022.2_Missense_Mutation_p.L385F			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	385						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGCCTGCTTCCTCTTCATGTT	0.627000													8	172					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40412019	40412019	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:40412019G>A	ENST00000221347.6	-	7	3616	c.3609C>T	c.(3607-3609)acC>acT	p.T1203T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1203	Cys-rich.					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)			CAGGGTAGAAGGTCTGGCCTG	0.672000													28	38					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42059266	42059266	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:42059266G>A	ENST00000219905.7	+	24	9167	c.8986G>A	c.(8986-8988)Gta>Ata	p.V2996I	MGA_ENST00000570161.1_Missense_Mutation_p.V2996I|MGA_ENST00000389936.4_Missense_Mutation_p.V2957I|MGA_ENST00000566586.1_Missense_Mutation_p.V2787I|MGA_ENST00000545763.1_Missense_Mutation_p.V2787I	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2957						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGGTTTAAAAGTAGCTAATCC	0.493000													20	37					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134351241	134351241	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:134351241C>T	ENST00000357304.4	+	15	3780	c.3725C>T	c.(3724-3726)tCc>tTc	p.S1242F	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1242							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TATGGCCCTTCCGACACATGC	0.577000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	17					0	0	1	0	0
FRMD5	84978	broad.mit.edu	37	15	44198110	44198110	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:44198110C>T	ENST00000417257.1	-	6	643	c.467G>A	c.(466-468)gGc>gAc	p.G156D	FRMD5_ENST00000402883.1_Missense_Mutation_p.G156D|FRMD5_ENST00000484674.1_Missense_Mutation_p.G67D	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	156	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		GGAGCTGTAGCCTTCAGGGTG	0.433000													27	27					0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3823269	3823269	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:3823269G>A	ENST00000262961.4	-	8	1356	c.1346C>T	c.(1345-1347)cCg>cTg	p.P449L		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	449						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CGGGCCCACCGGCTGCGCATC	0.622000													27	105					0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75152211	75152211	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:75152211G>A	ENST00000526177.1	-	10	2934	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	GDPD5_ENST00000336898.3_Silent_p.I490I|GDPD5_ENST00000529721.1_Silent_p.I490I|GDPD5_ENST00000533784.1_Silent_p.I371I|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Silent_p.I245I|GDPD5_ENST00000376282.3_Silent_p.I371I			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	490	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AACTCACCATGATCCAGAGGG	0.662000													16	19					0	0	1	0	0
RPAP3	79657	broad.mit.edu	37	12	48063895	48063895	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:48063895G>A	ENST00000005386.3	-	13	1636	c.1521C>T	c.(1519-1521)tcC>tcT	p.S507S	RPAP3_ENST00000380650.4_Silent_p.S473S|RPAP3_ENST00000432584.3_Silent_p.S348S	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	507							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					CTCACTGCAGGGATGAAGTAT	0.368000													12	97					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18242413	18242413	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:18242413G>A	ENST00000377369.2	+	2	481	c.208G>A	c.(208-210)Gag>Aag	p.E70K	SLC39A12_ENST00000377374.4_Missense_Mutation_p.E70K|SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377371.3_Missense_Mutation_p.E70K	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	70					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AACATTGTTGGAGAAAACTGG	0.517000													17	47					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234359631	234359631	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:234359631C>T	ENST00000264057.2	+	17	2114	c.2102C>T	c.(2101-2103)tCc>tTc	p.S701F	DGKD_ENST00000409813.3_Missense_Mutation_p.S657F	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	701					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGTTCTGCTTCCCTTCCGCCC	0.592000													67	101					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60909245	60909245	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:60909245G>A	ENST00000252999.3	-	22	2802	c.2736C>T	c.(2734-2736)gtC>gtT	p.V912V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	912	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCCCACCTGGACAGGTGCCA	0.677000													17	41					0	0	1	0	0
ZNF714	148206	broad.mit.edu	37	19	21300841	21300841	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:21300841T>G	ENST00000596143.1	+	5	1696	c.1371T>G	c.(1369-1371)tgT>tgG	p.C457W	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GTGAAGAATGTGGCAAAGCTT	0.368000													12	31					0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952855	54952855	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:54952855C>T	ENST00000273286.5	-	3	831	c.669G>A	c.(667-669)agG>agA	p.R223R	CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Silent_p.R147R|CACNA2D3_ENST00000415676.2_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	223	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CATGAGGGATCCTAAGGAGGT	0.547000													9	14					0	0	1	0	0
UQCC2	84300	broad.mit.edu	37	6	33679350	33679350	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:33679350G>A	ENST00000607484.1	-	1	154	c.114C>T	c.(112-114)gcC>gcT	p.A38A	MNF1_ENST00000374214.3_Silent_p.A38A	NM_032340.3	NP_115716.1	Q9BRT2	CF125_HUMAN		38																	CCTCCCGAAAGGCCTGTGCTA	0.662000													8	102					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080199	54080199	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:54080199A>T	ENST00000253144.9	+	7	1718	c.385A>T	c.(385-387)Aat>Tat	p.N129Y	ZNF331_ENST00000513999.1_Missense_Mutation_p.N129Y|ZNF331_ENST00000411977.2_Missense_Mutation_p.N129Y|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000512387.1_Missense_Mutation_p.N129Y|ZNF331_ENST00000511593.2_Missense_Mutation_p.N129Y|ZNF331_ENST00000511154.1_Missense_Mutation_p.N129Y|ZNF331_ENST00000449416.1_Missense_Mutation_p.N129Y	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TCATAAGGAGAATTCCTTTGA	0.413000			T	?	follicular thyroid adenoma								21	58					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76735447	76735447	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:76735447C>T	ENST00000287239.4	+	8	1841	c.1352C>T	c.(1351-1353)tCa>tTa	p.S451L	KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372711.1_Missense_Mutation_p.S451L	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	451	Negatively regulates HAT activity.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GGTCGCAGATCACGAGGTGAA	0.413000													16	32					0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45021080	45021080	+	RNA	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:45021080C>T	ENST00000454753.1	-	0	1514							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGTTGTAGATCCCGTCGTGTT	0.597000													4	8					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128844001	128844001	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:128844001G>A	ENST00000524655.1	-	19	2850	c.2827C>T	c.(2827-2829)Cca>Tca	p.P943S	ARHGAP32_ENST00000310343.9_Intron|ARHGAP32_ENST00000392657.3_Intron|ARHGAP32_ENST00000527272.1_Intron			A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1017					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGAAAGAATGGAGGAAAACAA	0.428000													28	70					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77703049	77703049	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:77703049G>A	ENST00000298351.4	+	9	769	c.625G>A	c.(625-627)Ggg>Agg	p.G209R		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	209						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TCACTGCCTGGGGTTTGCACC	0.562000													28	46					0	0	1	0	0
LGALS9B	284194	broad.mit.edu	37	17	20354881	20354881	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:20354881G>A	ENST00000423676.3	-	10	900	c.837C>T	c.(835-837)gtC>gtT	p.V279V	LGALS9B_ENST00000324290.5_Silent_p.V278V			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	279	Galectin 2.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						GGGTGTTACGGACCACAGCAT	0.587000													16	21					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8217908	8217908	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:8217908G>A	ENST00000539824.1	+	6	698	c.324G>A	c.(322-324)gaG>gaA	p.E108E	SH3TC1_ENST00000245105.3_Silent_p.E184E			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	184							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCAGTGAGGAGGAGGAGACGG	0.607000													10	14					0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172750341	172750341	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:172750341C>T	ENST00000265087.4	-	3	1696	c.387G>A	c.(385-387)agG>agA	p.R129R	STC2_ENST00000520593.1_5'UTR	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	129					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACACCATTTCCCTGATGGCCG	0.572000													11	20					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128199886	128199886	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:128199886G>A	ENST00000341105.2	-	6	1750	c.1419C>T	c.(1417-1419)tcC>tcT	p.S473S	GATA2_ENST00000487848.1_Silent_p.S473S|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Silent_p.S459S	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	473					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TCACCATGCTGGACGGGTGGG	0.667000			Mis		AML(CML blast transformation)								6	28					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47847072	47847072	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:47847072G>A	ENST00000339488.4	-	3	1541	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	503						integral to membrane	hedgehog receptor activity										CATGGCATAGGAAACACTTGG	0.468000													3	42					0	0	1	0	0
ODAM	54959	broad.mit.edu	37	4	71067174	71067174	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:71067174C>T	ENST00000396094.2	+	7	580	c.532C>T	c.(532-534)Cca>Tca	p.P178S		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	178	Gln-rich.				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CTGACAGATACCATTCTATGC	0.254000													4	7					0	0	1	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218925164	218925164	+	RNA	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:218925164C>T	ENST00000439871.1	-	0	1216					NR_002712.1																						TGGCTATAATCTTGAGAAGTC	0.517000													23	39					0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26532936	26532936	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:26532936T>G	ENST00000333478.6	-	10	3101	c.2519A>C	c.(2518-2520)cAa>cCa	p.Q840P	GPR113_ENST00000311519.1_Missense_Mutation_p.Q1039P|GPR113_ENST00000421160.2_Missense_Mutation_p.Q970P|GPR113_ENST00000541401.1_Missense_Mutation_p.Q642P|GPR113_ENST00000459892.1_5'UTR	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	1039					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGGGGGCTTGGGCGCGGCA	0.597000													26	57					0	0	1	0	0
FSHB	2488	broad.mit.edu	37	11	30253455	30253455	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:30253455G>A	ENST00000417547.1	+	2	45	c.6G>A	c.(4-6)aaG>aaA	p.K2K	FSHB_ENST00000254122.3_Silent_p.K2K|FSHB_ENST00000533718.1_Silent_p.K2K	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	2					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	CCAGGATGAAGACACTCCAGT	0.403000													9	30					0	0	1	0	0
RPL32P3	132241	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:129116038C>T	ENST00000514355.1	-	0	412																				lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567000													5	79					0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52995617	52995617	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:52995617C>T	ENST00000259803.7	-	5	765	c.554G>A	c.(553-555)gGg>gAg	p.G185E		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	185						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CTCTGTGCTCCCCTTCAGGCT	0.498000													14	113					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325832	79325832	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:79325832C>T	ENST00000428286.1	-	8	1481	c.281G>A	c.(280-282)gGa>gAa	p.G94E	PRUNE2_ENST00000376718.3_Missense_Mutation_p.G453E			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	453					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGCACCTTCTCCCACGGGGCT	0.592000													16	25					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3424150	3424150	+	RNA	SNP	G	G	A	rs148369098	by1000genomes	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:3424150G>A	ENST00000529482.1	+	0	809																											CATAGAGGACGAAGACTTCTC	0.557000													12	9					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7220821	7220821	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:7220821G>A	ENST00000399464.2	-	27	4292	c.4277C>T	c.(4276-4278)gCc>gTc	p.A1426V	RP11-542C16.2_ENST00000575474.1_Missense_Mutation_p.P240S|NEURL4_ENST00000315614.7_Missense_Mutation_p.A1424V|NEURL4_ENST00000574120.1_5'UTR|NEURL4_ENST00000570460.1_Missense_Mutation_p.A1402V	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCGTACAGCGGCAACATTGCT	0.602000													43	65					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059063	9059063	+	Silent	SNP	G	G	A	rs147088301	by1000genomes	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:9059063G>A	ENST00000397910.4	-	3	28586	c.28383C>T	c.(28381-28383)gtC>gtT	p.V9461V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9463	Ser-rich.|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						AAGTGACAGGGACAGGAGAGG	0.463000													38	64					0	0	1	0	0
TSC22D2	9819	broad.mit.edu	37	3	150127545	150127545	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:150127545C>T	ENST00000361875.2	+	1	1424	c.408C>T	c.(406-408)ggC>ggT	p.G136G	TSC22D2_ENST00000361136.2_Silent_p.G136G	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	136							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CACCCGGCGGCCCCCAGCTCG	0.711000													20	34					0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175598335	175598335	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:175598335G>A	ENST00000274093.3	-	7	1323	c.821C>T	c.(820-822)tCa>tTa	p.S274L	GLRA3_ENST00000340217.5_Missense_Mutation_p.S274L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	274					synaptic transmission	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			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GATCCAGAATGAAACCCAGGA	0.478000													16	23					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953625	56953625	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:56953625G>A	ENST00000504904.3	-	7	1458	c.739C>T	c.(739-741)Cat>Tat	p.H247Y	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.H375Y|ZNF667_ENST00000292069.6_Missense_Mutation_p.H247Y			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CCAACAACATGAATTTTCTGA	0.373000													25	65					0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23438119	23438119	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:23438119C>T	ENST00000248996.4	+	2	903	c.237C>T	c.(235-237)gaC>gaT	p.D79D	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	79						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		ATGCCATCGACTCGCTGACCC	0.612000													41	252					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21456268	21456268	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:21456268C>T	ENST00000313654.9	+	39	5250	c.5009C>T	c.(5008-5010)cCt>cTt	p.P1670L	LAMA3_ENST00000587184.1_Missense_Mutation_p.P61L|LAMA3_ENST00000399516.3_Missense_Mutation_p.P1670L|LAMA3_ENST00000269217.6_Missense_Mutation_p.P61L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1670	Domain III A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTTGTAGCCCTGGATACTAT	0.413000													20	34					0	0	1	0	0
ADAM8	101	broad.mit.edu	37	10	135080885	135080885	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:135080885G>A	ENST00000445355.3	-	21	2340	c.2290C>T	c.(2290-2292)Cct>Tct	p.P764S	ADAM8_ENST00000485491.2_Missense_Mutation_p.P699S|ADAM8_ENST00000415217.3_Missense_Mutation_p.S708F	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	699					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		GTGTAGACAGGAACTGGGAAG	0.657000													4	19					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99969333	99969333	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:99969333G>A	ENST00000298999.3	+	5	1765	c.1462G>A	c.(1462-1464)Gac>Aac	p.D488N	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.D488N|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		CACTTTTTTGGACTCTGAACT	0.398000													16	40					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4842843	4842843	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:4842843C>T	ENST00000322110.5	+	1	293	c.228C>T	c.(226-228)ttC>ttT	p.F76F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTACTATTTCCTCTCTATGC	0.458000													56	106					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149902735	149902735	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:149902735G>A	ENST00000361405.6	-	8	1056	c.806C>T	c.(805-807)cCc>cTc	p.P269L	MTMR11_ENST00000439741.2_Silent_p.T471T|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Silent_p.T399T|MTMR11_ENST00000406732.3_3'UTR			A4FU01	MTMRB_HUMAN	myotubularin related protein 11	0	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGAAGGTAAGGGTGTCAGGAA	0.463000													12	24					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26902715	26902715	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:26902715C>T	ENST00000231021.4	-	7	1295	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	375	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCTATATCTTCCACAGATATT	0.413000													19	47					0	0	1	0	0
GSTA2	2939	broad.mit.edu	37	6	52615393	52615393	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:52615393C>T	ENST00000493422.1	-	7	806	c.651G>A	c.(649-651)agG>agA	p.R217R		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	217					glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	TGAAAATCTTCCTTGATTCTT	0.403000													19	86					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65882413	65882413	+	Silent	SNP	C	C	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:65882413C>A	ENST00000321892.4	+	6	2284	c.2223C>A	c.(2221-2223)gtC>gtA	p.V741V	BPTF_ENST00000424123.3_Silent_p.V602V|BPTF_ENST00000306378.6_Intron|BPTF_ENST00000335221.5_Silent_p.V741V			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	741	Interaction with KEAP1.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATACACCTGTCTCTATTCAGG	0.358000													5	32					1	1	1	1	0
GUCA1C	9626	broad.mit.edu	37	3	108672495	108672495	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:108672495C>T	ENST00000261047.3	-	1	247	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	GUCA1C_ENST00000393963.3_Missense_Mutation_p.E39K|GUCA1C_ENST00000471108.1_Missense_Mutation_p.E39K	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	39	EF-hand 1.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						GTCTTAAATTCATGTAGTGTT	0.388000													35	74					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32480537	32480537	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:32480537G>A	ENST00000266088.4	+	8	1026	c.776G>A	c.(775-777)aGg>aAg	p.R259K	SLC5A1_ENST00000543737.1_Missense_Mutation_p.R132K	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	259					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TACACTCCAAGGGCCGACTCC	0.522000													6	45					0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50327351	50327351	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:50327351C>T	ENST00000394697.2	+	6	1114	c.774C>T	c.(772-774)gaC>gaT	p.D258D	ADCY7_ENST00000538642.1_Silent_p.D258D|ADCY7_ENST00000537579.1_Silent_p.D258D|ADCY7_ENST00000566433.2_Silent_p.D258D|ADCY7_ENST00000254235.3_Silent_p.D258D|ADCY7_ENST00000564044.1_3'UTR			P51828	ADCY7_HUMAN	adenylate cyclase 7	258					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	AGCATGGTGACCGTCGCTGCA	0.587000													5	58					0	0	1	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1338022	1338022	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:1338022C>T	ENST00000320895.5	-	5	932	c.675G>A	c.(673-675)ctG>ctA	p.L225L	CLPTM1L_ENST00000320927.6_Silent_p.L225L|CLPTM1L_ENST00000507807.1_Silent_p.L92L	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	225					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CACTCACCATCAGGTCCTTCA	0.592000													4	12					0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17833826	17833826	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:17833826C>T	ENST00000428135.3	-	26	2915	c.2717G>A	c.(2716-2718)aGa>aAa	p.R906K	SNX13_ENST00000409389.1_3'UTR|SNX13_ENST00000496855.1_5'UTR	NM_015132.4	NP_055947.1	Q9Y5W8	SNX13_HUMAN	sorting nexin 13	917					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					ATAAACCATTCTCCTATTTAA	0.373000													6	16					0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57131823	57131823	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:57131823G>A	ENST00000296318.7	-	12	1996	c.1908C>T	c.(1906-1908)gcC>gcT	p.A636A	IL17RD_ENST00000463523.1_Silent_p.A492A|IL17RD_ENST00000427856.2_Silent_p.A612A|IL17RD_ENST00000320057.5_Silent_p.A492A	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	636						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TACCGTCAAGGGCAGGCCGGG	0.667000													8	20					0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034973	58034973	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:58034973G>A	ENST00000395079.2	-	1	759	c.358C>T	c.(358-360)Ccg>Tcg	p.P120S		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				TACTGCAACGGGTGGCAAATG	0.537000													15	17					0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67630398	67630398	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:67630398C>T	ENST00000272342.5	+	5	714	c.584C>T	c.(583-585)gCt>gTt	p.A195V	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	195						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						ATGAAACTGGCTAAACAATTT	0.274000													14	17					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18024936	18024936	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:18024936C>T	ENST00000205890.5	+	2	3160	c.2822C>T	c.(2821-2823)tCc>tTc	p.S941F		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	941	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGCCCACCCTCCCCCTGGCCA	0.701000													10	11					0	0	1	0	0
CHST13	166012	broad.mit.edu	37	3	126261355	126261355	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:126261355C>T	ENST00000319340.2	+	3	1010	c.960C>T	c.(958-960)ttC>ttT	p.F320F		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	320					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GGCGCCTCTTCGACCTCTACA	0.697000													6	17					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728144	20728144	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:20728144C>T	ENST00000427401.4	-	4	959	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	289					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTGCCACATTCTTCACATTTG	0.423000													8	27					0	0	1	0	0
MPP1	4354	broad.mit.edu	37	X	154019329	154019329	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:154019329C>A	ENST00000413259.3	-	5	642	c.250G>T	c.(250-252)Ggg>Tgg	p.G84W	MPP1_ENST00000393531.1_Missense_Mutation_p.G114W|MPP1_ENST00000462825.1_Intron|MPP1_ENST00000369534.3_Missense_Mutation_p.G114W	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	114	PDZ.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCTCATCCCCCACGTGAAGG	0.418000													40	150					1.96642e-18	2.01929e-18	1	1	0
TCHHL1	126637	broad.mit.edu	37	1	152057868	152057868	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:152057868G>A	ENST00000368806.1	-	3	2354	c.2290C>T	c.(2290-2292)Cca>Tca	p.P764S		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	764							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTCTTGGCTGGACTTTTTTGG	0.488000													41	77					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33680822	33680822	+	Missense_Mutation	SNP	G	G	T	rs149238570		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:33680822G>T	ENST00000394566.1	-	6	1727	c.1455C>A	c.(1453-1455)gaC>gaA	p.D485E	SLFN11_ENST00000308377.4_Missense_Mutation_p.D485E	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	485						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAGTGCAGTAGTCCTGGCCCT	0.557000													8	10					4.68919e-08	4.7725e-08	1	1	0
ZMYM3	9203	broad.mit.edu	37	X	70465286	70465286	+	Silent	SNP	C	C	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:70465286C>A	ENST00000373998.1	-	18	3571	c.2874G>T	c.(2872-2874)ctG>ctT	p.L958L	ZMYM3_ENST00000373988.1_Silent_p.L972L|ZMYM3_ENST00000373984.3_Silent_p.L972L|ZMYM3_ENST00000314425.5_Silent_p.L970L|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Silent_p.L970L	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	970					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CAGGCCCAAACAGGTCACAGT	0.547000													5	12					0.00198382	0.00199877	1	1	0
CASR	846	broad.mit.edu	37	3	121973120	121973120	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:121973120G>A	ENST00000498619.1	+	2	522	c.84G>A	c.(82-84)aaG>aaA	p.K28K	CASR_ENST00000490131.1_Silent_p.K28K|CASR_ENST00000296154.5_Silent_p.K28K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	28					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GAGCCCAAAAGAAGGGGGACA	0.522000													45	70					0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23816926	23816926	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:23816926G>A	ENST00000354772.3	-	8	1462	c.959C>T	c.(958-960)gCc>gTc	p.A320V	SLC22A17_ENST00000206544.8_Missense_Mutation_p.A320V|SLC22A17_ENST00000397260.3_Missense_Mutation_p.A209V|SLC22A17_ENST00000397267.1_Missense_Mutation_p.A320V|SLC22A17_ENST00000474057.1_5'UTR	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	320					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTGGCGAATGGCATGGGCAAT	0.632000													29	71					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176934317	176934317	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:176934317G>A	ENST00000367654.2	-	9	1617	c.1604C>T	c.(1603-1605)cCc>cTc	p.P535L	ASTN1_ENST00000424564.2_Missense_Mutation_p.P527L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.P527L|ASTN1_ENST00000367657.3_Missense_Mutation_p.P527L			O14525	ASTN1_HUMAN	astrotactin 1	535					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTTATCAGAGGGCTGCTCTCC	0.418000													29	46					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231517	21231517	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:21231517G>A	ENST00000233242.1	-	26	8350	c.8223C>T	c.(8221-8223)ttC>ttT	p.F2741F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2741					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGGGAAGCTGGAATTCTGGTA	0.393000													62	130					0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85686841	85686841	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:85686841C>T	ENST00000521268.1	+	3	1389	c.284C>T	c.(283-285)cCa>cTa	p.P95L	RALYL_ENST00000518566.1_Missense_Mutation_p.P95L|RALYL_ENST00000523850.1_Missense_Mutation_p.P22L|RALYL_ENST00000522455.1_Missense_Mutation_p.P95L|RALYL_ENST00000521376.1_Missense_Mutation_p.P22L|RALYL_ENST00000521695.1_Missense_Mutation_p.P95L|RALYL_ENST00000517638.1_Missense_Mutation_p.P108L	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	95							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GAGCCCAAACCATACAGACCA	0.353000													4	7					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197172730	197172730	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:197172730C>T	ENST00000260983.2	-	11	2696	c.2514G>A	c.(2512-2514)ccG>ccA	p.P838P	HECW2_ENST00000409111.1_Silent_p.P482P	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	838	Interaction with TP73.|WW 1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGGGAGCTGTCGGTCGCTGCC	0.567000													28	32					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314350	54314350	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:54314350C>T	ENST00000324134.6	-	3	731	c.563G>A	c.(562-564)gGa>gAa	p.G188E	NLRP12_ENST00000391773.1_Missense_Mutation_p.G188E|NLRP12_ENST00000391772.1_Missense_Mutation_p.G188E|NLRP12_ENST00000391775.3_Missense_Mutation_p.G188E|NLRP12_ENST00000351894.4_Missense_Mutation_p.G188E|NLRP12_ENST00000345770.5_Missense_Mutation_p.G188E|NLRP12_ENST00000354278.3_Missense_Mutation_p.G188E|NLRP12_ENST00000535162.1_Missense_Mutation_p.G188E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	188					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGCCTGGTGTCCCACGGTCCT	0.652000													30	53					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12120529	12120529	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:12120529C>T	ENST00000379388.2	+	4	833	c.501C>T	c.(499-501)tcC>tcT	p.S167S		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	167					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)				ACTCAAGTTCCTTGTCAAGTA	0.468000													36	202					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255128	15255128	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:15255128G>A	ENST00000378116.4	-	8	2465	c.2459C>T	c.(2458-2460)tCg>tTg	p.S820L		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	820						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						TCTCCGACTCGACCCCTCCAA	0.647000													26	34					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346845	48346845	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:48346845C>T	ENST00000319856.4	+	1	374	c.353C>T	c.(352-354)tCt>tTt	p.S118F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						AGAACCATCTCTTATGAGTGC	0.438000													32	250					0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020857	5020857	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:5020857C>T	ENST00000321543.1	+	1	645	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTCAATCTTCATACTTCTTT	0.413000													17	37					0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170632308	170632308	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:170632308C>T	ENST00000476287.1	+	3	1984	c.1876C>T	c.(1876-1878)Cga>Tga	p.R626*	FAM120B_ENST00000540480.1_Nonsense_Mutation_p.R638*|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Nonsense_Mutation_p.R649*	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	626					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CCGTCCCATTCGACAGCGGGT	0.483000													27	15					0	0	1	0	0
EVA1C	59271	broad.mit.edu	37	21	33785321	33785321	+	Splice_Site	SNP	G	G	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:33785321G>T	ENST00000300255.2	+	1	633	c.160_splice	c.e1+1	p.G54_splice	EVA1C_ENST00000401402.3_Splice_Site_p.G54_splice|EVA1C_ENST00000382699.3_Splice_Site_p.G54_splice	NM_058187.3	NP_478067.2			eva-1 homolog C (C. elegans)																		CGACTTCTCTGGTAAGAGCGC	0.687000													3	5					1	1	1	1	0
BRINP1	1620	broad.mit.edu	37	9	121929956	121929956	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:121929956G>A	ENST00000265922.3	-	8	2153	c.1692C>T	c.(1690-1692)gtC>gtT	p.V564V	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		564					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TAAAGGGGTTGACATAGACAA	0.557000													19	15					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685473	248685473	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:248685473C>T	ENST00000343414.4	+	1	558	c.526C>T	c.(526-528)Cat>Tat	p.H176Y		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACACTGGATCATATTTTCTG	0.532000													23	28					0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48884600	48884600	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:48884600G>A	ENST00000314014.2	+	6	305	c.174G>A	c.(172-174)caG>caA	p.Q58Q	C12orf54_ENST00000548364.1_Silent_p.Q58Q|RP11-722P11.4_ENST00000551847.1_RNA	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	58										endometrium(1)|large_intestine(4)	5						TTCAGCTGCAGGAAGATGCTC	0.453000													15	129					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903508	5903508	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:5903508G>A	ENST00000378961.4	+	4	922	c.718G>A	c.(718-720)Gga>Aga	p.G240R		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	240						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCAGGAGAGTGGAGAGGAGAC	0.532000													11	20					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145379738	145379738	+	Missense_Mutation	SNP	G	G	A	rs150323691		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:145379738G>A	ENST00000511217.1	+	2	548	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	SH3RF2_ENST00000359120.4_Missense_Mutation_p.E166K			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	166	SH3 1.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTACCAGGGGGAAATCAATGG	0.547000													23	39					0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46388880	46388880	+	Silent	SNP	C	C	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:46388880C>A	ENST00000454345.1	+	3	893	c.768C>A	c.(766-768)ccC>ccA	p.P256P	DGKZ_ENST00000421244.2_Silent_p.P67P|DGKZ_ENST00000456247.2_Silent_p.P67P|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000527911.1_Silent_p.P67P|DGKZ_ENST00000395574.3_Silent_p.P33P|DGKZ_ENST00000318201.8_Silent_p.P67P|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000343674.6_Silent_p.P84P|DGKZ_ENST00000532868.2_Silent_p.P72P	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	256	Poly-Pro.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		ACCTGGCCCCCCCTCCGCCCA	0.657000													20	52					4.26978e-12	4.36224e-12	1	1	0
SPECC1	92521	broad.mit.edu	37	17	20108047	20108047	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:20108047C>A	ENST00000395530.2	+	2	650	c.442C>A	c.(442-444)Ctt>Att	p.L148I	SPECC1_ENST00000395529.3_Missense_Mutation_p.L229I|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Missense_Mutation_p.L229I|SPECC1_ENST00000395525.3_Missense_Mutation_p.L148I|SPECC1_ENST00000395527.4_Missense_Mutation_p.L229I|SPECC1_ENST00000395522.2_Missense_Mutation_p.L148I|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000472876.1_Intron	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	229						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GATAAGAGCTCTTGAGGAGAA	0.478000													73	133					7.577e-32	7.83087e-32	1	1	0
LIPJ	142910	broad.mit.edu	37	10	90356597	90356597	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:90356597C>T	ENST00000371939.3	+	8	941	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	209					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		TTAAAAAATTCATTGGTTCAA	0.308000													30	70					0	0	1	0	0
DMRTA2	63950	broad.mit.edu	37	1	50885069	50885069	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:50885069G>A	ENST00000404795.3	-	3	1289	c.897C>T	c.(895-897)gcC>gcT	p.A299A	DMRTA2_ENST00000418121.1_Silent_p.A299A	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	299	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						GCGCCGGCGCGGCCTCACCCT	0.726000													43	37					0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101109757	101109757	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:101109757G>A	ENST00000314742.8	-	7	2182	c.1960C>T	c.(1960-1962)Cag>Tag	p.Q654*		NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	654										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						GTTGCTTGCTGGTGTAAAGAT	0.463000													21	50					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202633601	202633601	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:202633601G>A	ENST00000264276.6	-	2	380	c.8C>T	c.(7-9)tCa>tTa	p.S3L	ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Missense_Mutation_p.S3L	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	3					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TCTCTTCTTTGAGTCCATCGG	0.368000													13	30					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35911952	35911952	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:35911952G>A	ENST00000490799.1	-	20	2991	c.2638C>T	c.(2638-2640)Cgg>Tgg	p.R880W	SLC26A8_ENST00000355574.2_Missense_Mutation_p.R880W|SLC26A8_ENST00000394602.2_Missense_Mutation_p.R775W	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	880	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TCCAGCTCCCGATCCAGGTCT	0.572000													104	69					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22881354	22881354	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:22881354G>A	ENST00000400546.1	+	16	2509	c.2260G>A	c.(2260-2262)Gaa>Aaa	p.E754K	NCAM2_ENST00000284894.7_Missense_Mutation_p.E612K	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	754					neuron cell-cell adhesion	integral to membrane|plasma membrane		p.E754K(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TAAAGAACTCGAAGAAGGAAA	0.463000													19	51					0	0	1	0	0
SREBF1	6720	broad.mit.edu	37	17	17723494	17723494	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:17723494G>A	ENST00000355815.4	-	3	692	c.523C>T	c.(523-525)Ctg>Ttg	p.L175L	SREBF1_ENST00000261646.5_Silent_p.L145L|SREBF1_ENST00000583732.1_Intron|SREBF1_ENST00000435530.2_Silent_p.L145L|SREBF1_ENST00000338854.5_Silent_p.L145L	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	145	Pro/Ser-rich.				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CTCTGTGGCAGGAGGGCCCCT	0.657000													15	24					0	0	1	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33632470	33632470	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:33632470A>T	ENST00000252015.2	-	7	792	c.703T>A	c.(703-705)Tcc>Acc	p.S235T	TRPC4AP_ENST00000451813.1_Missense_Mutation_p.S235T|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.S196T			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	235	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TCGAAATTGGATACTAAGGAA	0.443000													18	138					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999558	72999558	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:72999558C>T	ENST00000322038.5	+	2	2645	c.2061C>T	c.(2059-2061)atC>atT	p.I687I	TSHZ1_ENST00000580243.1_Silent_p.I732I	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	732						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACCTGGGGATCATCATGGACC	0.572000													11	20					0	0	1	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49377267	49377267	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:49377267C>T	ENST00000200453.5	+	2	1046	c.777C>T	c.(775-777)tcC>tcT	p.S259S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	259	Glu-rich.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		ACCCCAGGTCCTGGGAGTATC	0.562000													22	35					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127636570	127636570	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:127636570C>T	ENST00000508053.1	-	54	7079	c.6105G>A	c.(6103-6105)ttG>ttA	p.L2035L	FBN2_ENST00000262464.4_Silent_p.L2035L			P35556	FBN2_HUMAN	fibrillin 2	2035	EGF-like 34; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGGATCCCTCCAAATTCTGAC	0.428000													23	37					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62284730	62284730	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:62284730G>A	ENST00000378024.4	-	5	17433	c.17159C>T	c.(17158-17160)tCc>tTc	p.S5720F	AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5720					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTAGGTTTGGAAAAATTAAA	0.493000													42	77					0	0	1	0	0
MMAA	166785	broad.mit.edu	37	4	146576528	146576528	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:146576528C>T	ENST00000281317.5	+	7	2409	c.1199C>T	c.(1198-1200)gCc>gTc	p.A400V	MMAA_ENST00000541599.1_Missense_Mutation_p.A119V	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	400						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCATTGGGGCCCTGTCCCCA	0.403000													31	35					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79745903	79745903	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:79745903G>A	ENST00000372371.3	-	22	3053	c.2916C>T	c.(2914-2916)ttC>ttT	p.F972F		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	972					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.F972F(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CCCCCTTAATGAATTTTTTTA	0.358000													18	48					0	0	1	0	0
LYRM4	57128	broad.mit.edu	37	6	5216901	5216901	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:5216901G>A	ENST00000330636.4	-	2	362	c.157C>T	c.(157-159)Caa>Taa	p.Q53*	LYRM4_ENST00000500576.2_Nonsense_Mutation_p.Q53*|LYRM4_ENST00000480566.1_Nonsense_Mutation_p.Q53*|LYRM4_ENST00000464010.1_Nonsense_Mutation_p.Q53*|LYRM4_ENST00000468929.1_Intron	NM_020408.4	NP_065141.3	Q9HD34	LYRM4_HUMAN	LYR motif containing 4	53						mitochondrion|nucleus				endometrium(1)	1	Ovarian(93;0.11)	all_hematologic(90;0.0901)				ACTAGGGTTTGAATTTCTACA	0.348000													19	81					0	0	1	0	0
LHX3	8022	broad.mit.edu	37	9	139092476	139092476	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:139092476C>T	ENST00000371746.3	-	2	336	c.218G>A	c.(217-219)cGc>cAc	p.R73H	LHX3_ENST00000371748.5_Missense_Mutation_p.R68H	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	68	LIM zinc-binding 1.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GCTGAAGCAGCGCTCGGCCAG	0.622000													17	25					0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110670740	110670740	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:110670740G>A	ENST00000394634.2	-	9	1166	c.959C>T	c.(958-960)tCa>tTa	p.S320L	CFI_ENST00000512148.1_Missense_Mutation_p.S313L|CFI_ENST00000394635.3_Missense_Mutation_p.S328L	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	320					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	p.S320L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AGGTAATAATGATTTTATCCG	0.358000													13	23					0	0	1	0	0
B4GALT4	8702	broad.mit.edu	37	3	118942929	118942929	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:118942929A>G	ENST00000467604.1	-	5	1041	c.650T>C	c.(649-651)gTt>gCt	p.V217A	B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000393765.2_Missense_Mutation_p.V217A|B4GALT4_ENST00000359213.3_Missense_Mutation_p.V217A|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000483209.1_Missense_Mutation_p.V217A			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	217					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GTTCCTGCCAACCACCAGATG	0.488000													17	38					0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23816925	23816925	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:23816925G>A	ENST00000354772.3	-	8	1463	c.960C>T	c.(958-960)gcC>gcT	p.A320A	SLC22A17_ENST00000206544.8_Silent_p.A320A|SLC22A17_ENST00000397260.3_Silent_p.A209A|SLC22A17_ENST00000397267.1_Silent_p.A320A|SLC22A17_ENST00000474057.1_5'UTR	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	320					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGTGGCGAATGGCATGGGCAA	0.627000													29	70					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729107	196729107	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:196729107G>A	ENST00000312428.6	-	41	7372	c.7272C>T	c.(7270-7272)ctC>ctT	p.L2424L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2424	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTAATGCAAAGAGATTTGGAA	0.423000													15	31					0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113286220	113286220	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:113286220G>A	ENST00000362072.3	-	5	990	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F	DRD2_ENST00000544518.1_Missense_Mutation_p.L215F|DRD2_ENST00000542968.1_Missense_Mutation_p.L216F|DRD2_ENST00000538967.1_Missense_Mutation_p.L216F|DRD2_ENST00000355319.2_Missense_Mutation_p.L216F|DRD2_ENST00000346454.3_Missense_Mutation_p.L216F|DRD2_ENST00000535984.1_5'UTR	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	216	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CGTCTGCGGAGGACAATGTAG	0.567000													31	56					0	0	1	0	0
MTFR1	9650	broad.mit.edu	37	8	66617088	66617088	+	Silent	SNP	C	C	T	rs144568946		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:66617088C>T	ENST00000262146.4	+	5	567	c.441C>T	c.(439-441)ctC>ctT	p.L147L	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Silent_p.L114L	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	147						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TTTGCGCTCTCGAAAATGAAC	0.483000													4	10					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110831649	110831649	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr13:110831649C>T	ENST00000375820.4	-	30	2434	c.2313G>A	c.(2311-2313)gcG>gcA	p.A771A		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	771	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGGGTCCGATCGCTCCATGTT	0.572000													37	66					0	0	1	0	0
PDCD1	5133	broad.mit.edu	37	2	242793446	242793446	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:242793446C>T	ENST00000334409.5	-	5	700	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	211					apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GAGGGGTCCTCCTTCTTTGAG	0.657000													13	29					0	0	1	0	0
CROCCP3	114819	broad.mit.edu	37	1	16809841	16809841	+	RNA	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:16809841G>A	ENST00000263511.4	-	0	1944					NR_023386.1																						CGTCCTCGTGGGCCTGCATGG	0.667000													5	4					0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119945315	119945315	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:119945315G>A	ENST00000297350.4	-	2	633	c.255C>T	c.(253-255)ccC>ccT	p.P85P		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	85					apoptosis|skeletal system development		cytokine activity|receptor activity	p.P85P(4)		breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CCTTGCACACGGGGCTGCAGT	0.562000													29	61					0	0	1	0	0
NYX	60506	broad.mit.edu	37	X	41333814	41333814	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:41333814G>A	ENST00000342595.2	+	2	1564	c.1108G>A	c.(1108-1110)Ggc>Agc	p.G370S	NYX_ENST00000378220.1_Missense_Mutation_p.G370S	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	370	LRRCT.		G -> V (in CSNB1A).		response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						CTCCGTGGCCGGCCTGGACCT	0.711000													6	10					0	0	1	0	0
MAPK13	5603	broad.mit.edu	37	6	36106769	36106769	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:36106769G>A	ENST00000211287.4	+	11	1217	c.955G>A	c.(955-957)Gag>Aag	p.E319K	MAPK13_ENST00000373766.5_3'UTR|MAPK13_ENST00000373759.1_3'UTR|MAPK13_ENST00000373761.6_Missense_Mutation_p.E309K	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	319					cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						GGAAGAGACGGAGGCCCAGCA	0.602000													19	50					0	0	1	0	0
FAM105B	90268	broad.mit.edu	37	5	14681618	14681618	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:14681618C>T	ENST00000284274.4	+	4	448	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B	124								p.R124S(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					ACGGCGAGTCCGTGGTGATAA	0.542000													37	66					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115998159	115998159	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:115998159G>A	ENST00000264363.2	-	2	712	c.34C>T	c.(34-36)Cga>Tga	p.R12*		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	12			R -> Q (in dbSNP:rs35181627).			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)		ATCAATGTTCGAAAACTTCTC	0.343000													5	5					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566549	4566549	+	Silent	SNP	G	G	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:4566549G>A	ENST00000360213.1	+	1	129	c.129G>A	c.(127-129)ggG>ggA	p.G43G		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTGGTGGGGAATGTGACCA	0.557000													21	40					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100076998	100076998	+	Silent	SNP	C	C	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:100076998C>T	ENST00000375202.2	+	21	2171	c.819C>T	c.(817-819)tcC>tcT	p.S273S	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Silent_p.S412S|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Silent_p.S273S|CCDC180_ENST00000411667.2_Silent_p.S270S|CCDC180_ENST00000395220.1_Silent_p.S412S					coiled-coil domain containing 180																		TGGAGTTCTCCCGAACCGATA	0.562000													11	4					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197065158	197065158	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:197065158delC	ENST00000367409.4	-	19	9213	c.8957delG	c.(8956-8958)gtfs	p.G2986fs	ASPM_ENST00000294732.7_Frame_Shift_Del_p.G1401fs|ASPM_ENST00000367408.1_Frame_Shift_Del_p.G651fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2986					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						ATAGAAGCAACCTTGAATAAT	0.343													8	81	---	---	---	---					
RXFP1	59350	broad.mit.edu	37	4	159573123	159573123	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:159573123delT	ENST00000307765.5	+	18	2441	c.2190delT	c.(2188-2190)ccfs	p.P730fs	RXFP1_ENST00000448688.2_Frame_Shift_Del_p.P625fs|RXFP1_ENST00000460056.2_Frame_Shift_Del_p.P649fs|RXFP1_ENST00000470033.1_Frame_Shift_Del_p.P697fs|RXFP1_ENST00000343542.5_Frame_Shift_Del_p.P682fs	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	730						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AGATGCCACCTGAGTTAATGA	0.418													28	47	---	---	---	---					
MOG	4340	broad.mit.edu	37	6	29625051	29625051	+	Frame_Shift_Del	DEL	T	T	-	rs79968239		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:29625051delT	ENST00000376894.4	+	1	183	c.65delT	c.(64-66)ccfs	p.L22fs	MOG_ENST00000376898.3_Frame_Shift_Del_p.L22fs|MOG_ENST00000396701.2_Frame_Shift_Del_p.L22fs|MOG_ENST00000396704.3_Frame_Shift_Del_p.L22fs|MOG_ENST00000494692.1_Frame_Shift_Del_p.L22fs|MOG_ENST00000490427.1_Frame_Shift_Del_p.L22fs|MOG_ENST00000376902.3_Frame_Shift_Del_p.L22fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000416766.2_Frame_Shift_Del_p.L22fs|MOG_ENST00000376891.4_Frame_Shift_Del_p.L22fs|MOG_ENST00000376888.2_Frame_Shift_Del_p.L22fs|MOG_ENST00000483013.1_Frame_Shift_Del_p.L22fs|MOG_ENST00000431798.2_Frame_Shift_Del_p.L22fs|MOG_ENST00000376917.3_Frame_Shift_Del_p.L22fs|MOG_ENST00000533330.2_Frame_Shift_Del_p.L22fs			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	22					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						ctcctcctcctccAAGTGTCT	0.547													16	10	---	---	---	---					
AHNAK2	113146	broad.mit.edu	37	14	105410335	105410335	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:105410335delG	ENST00000333244.5	-	7	11572	c.11453delC	c.(11452-11454)cafs	p.P3818fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3818						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGACTTGCCTGGGGCAGACAC	0.587													101	215	---	---	---	---