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
JPH2	57158	broad.mit.edu	37	20	42788275	42788275	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:42788275G>A	ENST00000372980.3	-	2	2024	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	384	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGCAATCTCGGCCTTCTGGC	0.682000													5	23					0	0	0.000602	0	0
PNMA5	114824	broad.mit.edu	37	X	152159672	152159672	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:152159672C>T	ENST00000439251.1	-	2	909	c.471G>A	c.(469-471)agG>agA	p.R157R	PNMA5_ENST00000361887.5_Silent_p.R157R|PNMA5_ENST00000535214.1_Silent_p.R157R|PNMA5_ENST00000452693.1_Silent_p.R157R	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	157					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTCAGTTTCCTGTACCACA	0.527000													30	248					0	0	0.007291	0	0
F2RL2	2151	broad.mit.edu	37	5	75914172	75914172	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:75914172G>A	ENST00000296641.4	-	2	563	c.360C>T	c.(358-360)ttC>ttT	p.F120F	IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000502745.1_Intron|F2RL2_ENST00000504899.1_Silent_p.F98F|IQGAP2_ENST00000379730.3_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	120					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		TGGTCCTGAAGAAAAGCATCC	0.453000													6	40					0	0	0.001168	0	0
FCAR	2204	broad.mit.edu	37	19	55396884	55396884	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:55396884G>A	ENST00000355524.3	+	3	318	c.308G>A	c.(307-309)aGg>aAg	p.R103K	FCAR_ENST00000391724.3_Missense_Mutation_p.R91K|FCAR_ENST00000391723.3_Missense_Mutation_p.R91K|FCAR_ENST00000391725.3_Missense_Mutation_p.R103K|FCAR_ENST00000391726.3_Missense_Mutation_p.R91K|FCAR_ENST00000359272.4_Missense_Mutation_p.R91K|FCAR_ENST00000345937.4_Missense_Mutation_p.R103K|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000469767.1_Missense_Mutation_p.R103K	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	103	Ig-like C2-type 1.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TGCCAATATAGGATAGGGCAC	0.488000													14	69					0	0	0.002450	0	0
TACC2	10579	broad.mit.edu	37	10	123842181	123842181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:123842181G>A	ENST00000369005.1	+	4	506	c.166G>A	c.(166-168)Gga>Aga	p.G56R	TACC2_ENST00000453444.2_Missense_Mutation_p.G56R|TACC2_ENST00000334433.3_Missense_Mutation_p.G56R|TACC2_ENST00000515603.1_Missense_Mutation_p.G56R|TACC2_ENST00000515273.1_Missense_Mutation_p.G56R|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	56						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGTTGGGCTTGGAGGCTTCTG	0.562000													7	110					0	0	0.004482	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040888	147040888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:147040888C>T	ENST00000265272.5	-	3	717	c.250G>A	c.(250-252)Gag>Aag	p.E84K	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E42K|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E84K	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	84						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGCAGCTCCTTCATCTTC	0.537000													24	118					0	0	0.002780	0	0
BCOR	54880	broad.mit.edu	37	X	39932522	39932522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:39932522G>A	ENST00000342274.4	-	4	2439	c.2077C>T	c.(2077-2079)Cct>Tct	p.P693S	BCOR_ENST00000378455.4_Missense_Mutation_p.P693S|BCOR_ENST00000378444.4_Missense_Mutation_p.P693S|BCOR_ENST00000397354.3_Missense_Mutation_p.P693S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	693	Pro-rich.				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGGTGCCCAGGAAACAGACTG	0.582000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						6	42					0	0	0.001168	0	0
C1orf177	163747	broad.mit.edu	37	1	55271814	55271814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:55271814G>A	ENST00000358193.3	+	1	79	c.25G>A	c.(25-27)Gga>Aga	p.G9R	C1orf177_ENST00000371273.3_Missense_Mutation_p.G9R	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	9										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GGATGCCGCCGGAGCTCATGG	0.721000													12	12					0	0	0.004007	0	0
FGR	2268	broad.mit.edu	37	1	27943740	27943740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:27943740C>T	ENST00000374005.3	-	6	784	c.496G>A	c.(496-498)Ggg>Agg	p.G166R	FGR_ENST00000545953.1_Intron|FGR_ENST00000374004.1_Missense_Mutation_p.G166R|FGR_ENST00000399173.1_Missense_Mutation_p.G166R	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	166	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGAAAGGCCCCCTGGGGGTTG	0.602000													14	95					0	0	0.002450	0	0
KCNB2	9312	broad.mit.edu	37	8	73480025	73480025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:73480025C>T	ENST00000523207.1	+	2	644	c.56C>T	c.(55-57)tCc>tTc	p.S19F		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	19					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCGACACTTTCCCTTCCTCCA	0.517000													8	30					0	0	0.004482	0	0
TUBB8	347688	broad.mit.edu	37	10	93805	93805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:93805G>A	ENST00000447903.2	-	4	626	c.311C>T	c.(310-312)tCg>tTg	p.S104L	TUBB8_ENST00000309812.4_Missense_Mutation_p.S176L|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	176					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CACGGTGTCCGACACCTTGGG	0.537000													14	244					0	0	0.007413	0	0
B3GALT6	126792	broad.mit.edu	37	1	1168182	1168182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:1168182C>T	ENST00000379198.2	+	1	554	c.524C>T	c.(523-525)cCc>cTc	p.P175L		NM_080605.3	NP_542172.2	Q96L58	B3GT6_HUMAN	UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6	175					glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity			lung(3)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		gcccgcgagcccgcgcgccgc	0.751000													4	16					0	0	0.001168	0	0
ADAM33	80332	broad.mit.edu	37	20	3652877	3652877	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:3652877G>A	ENST00000356518.2	-	14	1742	c.1501C>T	c.(1501-1503)Cta>Tta	p.L501L	ADAM33_ENST00000350009.2_Silent_p.L501L|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Silent_p.L501L	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	501	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCGTCCAGTAGGTAAACGTCT	0.662000													16	139					0	0	0.006122	0	0
C14orf166B	145497	broad.mit.edu	37	14	77319594	77319594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr14:77319594G>A	ENST00000393774.3	+	9	973	c.849G>A	c.(847-849)atG>atA	p.M283I	C14orf166B_ENST00000450042.2_3'UTR	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	283										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		ATCTCTCCATGAATGGCTTTG	0.547000													11	101					0	0	0.000978	0	0
NUMA1	4926	broad.mit.edu	37	11	71725701	71725701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:71725701C>T	ENST00000393695.3	-	15	3179	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.E950K	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	950					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCCAGCCACTCGGGCTGTCTG	0.637000			T	RARA	APL								14	86					0	0	0.001855	0	0
ZNF862	643641	broad.mit.edu	37	7	149557631	149557631	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:149557631G>A	ENST00000223210.4	+	7	1627	c.1382G>A	c.(1381-1383)aGg>aAg	p.R461K		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AGGACATACAGGCCCCGTTCC	0.537000													29	194					0	0	0.002445	0	0
PTPN14	5784	broad.mit.edu	37	1	214571288	214571288	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:214571288C>T	ENST00000366956.5	-	8	920	c.726G>A	c.(724-726)agG>agA	p.R242R	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	242	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CAATTCTGTTCCTCACGAAAA	0.358000													6	20					0	0	0.001984	0	0
NEB	4703	broad.mit.edu	37	2	152534274	152534274	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:152534274C>T	ENST00000397345.3	-	34	3781	c.3579G>A	c.(3577-3579)aaG>aaA	p.K1193K	NEB_ENST00000604864.1_Silent_p.K1193K|NEB_ENST00000409198.1_Silent_p.K1193K|NEB_ENST00000427231.2_Silent_p.K1193K|NEB_ENST00000172853.10_Silent_p.K1193K|NEB_ENST00000603639.1_Silent_p.K1193K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1193					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)		TGTAGTCTTCCTTGTAGACGT	0.458000													15	149					0	0	0.004990	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920492	51920492	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:51920492G>C	ENST00000353836.5	-	2	486	c.265C>G	c.(265-267)Cga>Gga	p.R89G	SIGLEC10_ENST00000356298.5_Missense_Mutation_p.R89G|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.R89G|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.R89G|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.R89G|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.R89G|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.R89G|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.R89G|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.R89G	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	89	Ig-like V-type.				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)		AGCTGGAATCGGCCCCGGGTG	0.567000													16	106					0	0	0.004007	0	0
ANK1	286	broad.mit.edu	37	8	41547811	41547811	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:41547811C>T	ENST00000396942.1	-	33	4121	c.4038G>A	c.(4036-4038)gcG>gcA	p.A1346A	ANK1_ENST00000347528.4_Silent_p.A1346A|ANK1_ENST00000379758.2_Silent_p.A1346A|ANK1_ENST00000396945.1_Silent_p.A1346A|ANK1_ENST00000265709.8_Silent_p.A1387A|ANK1_ENST00000352337.4_Silent_p.A1346A|ANK1_ENST00000289734.7_Silent_p.A1346A			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1346					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.A1346A(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGTACTTCATCGCCTTGCGCA	0.597000													14	119					0	0	0.001855	0	0
ARAP1	116985	broad.mit.edu	37	11	72424253	72424253	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:72424253G>A	ENST00000359373.5	-	5	1566	c.715C>T	c.(715-717)Ccg>Tcg	p.P239S	ARAP1_ENST00000426523.1_5'UTR|ARAP1_ENST00000393609.3_Missense_Mutation_p.P239S|ARAP1_ENST00000334211.8_5'UTR|ARAP1_ENST00000455638.2_Missense_Mutation_p.P239S|ARAP1_ENST00000429686.1_5'UTR			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	239					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GGGGCCCCCGGCCCCTCCTCT	0.667000													21	262					0	0	0.002299	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283948	151283948	+	RNA	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:151283948G>A	ENST00000509345.2	-	0	388																											CAGGCCCAGGGCCTCTTCTTG	0.627000													8	62					0	0	0.003080	0	0
RALGAPB	57148	broad.mit.edu	37	20	37150215	37150215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:37150215C>T	ENST00000262879.6	+	10	1777	c.1493C>T	c.(1492-1494)cCt>cTt	p.P498L	RALGAPB_ENST00000397042.3_Missense_Mutation_p.P498L|RALGAPB_ENST00000397040.1_Missense_Mutation_p.P498L|RALGAPB_ENST00000537204.1_Intron|RALGAPB_ENST00000397038.1_Missense_Mutation_p.P276L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	498					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTTTCCAATCCTATGTTTGAT	0.443000													6	54					0	0	0.001168	0	0
DSP	1832	broad.mit.edu	37	6	7568053	7568053	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:7568053G>A	ENST00000379802.3	+	10	1521	c.1180G>A	c.(1180-1182)Ggg>Agg	p.G394R	DSP_ENST00000418664.2_Missense_Mutation_p.G394R	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	394	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.G394W(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATACCTGAAGGGGCTCCAGGA	0.493000													10	21					0	0	0.006214	0	0
GGTLC2	91227	broad.mit.edu	37	22	22989317	22989317	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr22:22989317G>A	ENST00000448514.1	+	2	270	c.270G>A	c.(268-270)ggG>ggA	p.G90G	GGTLC2_ENST00000480559.1_Silent_p.G90G			Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	90					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		ACGAGTTTGGGGTGCCCCCCT	0.612000													20	170					0	0	0.003330	0	0
FAM193B	54540	broad.mit.edu	37	5	176958471	176958471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:176958471G>A	ENST00000443375.2	-	7	2546	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	FAM193B_ENST00000514747.1_Intron|FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000329540.5_5'UTR			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	426										kidney(1)|large_intestine(3)	4						AGCCTCGAGCGGAGCTTCTCC	0.692000													5	26					0	0	0.001168	0	0
PRDM4	11108	broad.mit.edu	37	12	108147759	108147759	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:108147759G>A	ENST00000228437.5	-	4	732	c.273C>T	c.(271-273)acC>acT	p.T91T	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	91					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						GTGGAGGTAGGGTGTAGTTTC	0.478000													9	57					0	0	0.008291	0	0
SETMAR	6419	broad.mit.edu	37	3	4355407	4355407	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:4355407C>T	ENST00000358065.4	+	2	1049	c.982C>T	c.(982-984)Cct>Tct	p.P328S	SETMAR_ENST00000430981.1_Missense_Mutation_p.P328S|SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Missense_Mutation_p.P189S	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	315	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TGGCTCAGCCCCTTCTGTGTT	0.512000								Chromatin Structure					4	25					0	0	0.000602	0	0
BAGE2	85319	broad.mit.edu	37	21	11098827	11098827	+	RNA	SNP	C	C	T	rs79274499	by1000genomes	TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr21:11098827C>T	ENST00000470054.1	-	0	98									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)		ccatccagagcgagacgagcc	0.637000													6	42					0	0	0.001168	0	0
KCTD13	253980	broad.mit.edu	37	16	29922374	29922374	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:29922374G>A	ENST00000568000.1	-	5	1679	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	226					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						CCTGCCCGTAGAAAGACCAGC	0.577000													8	77					0	0	0.003080	0	0
ELOVL6	79071	broad.mit.edu	37	4	110972501	110972501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:110972501G>A	ENST00000394607.3	-	5	954	c.791C>T	c.(790-792)gCt>gTt	p.A264V	ELOVL6_ENST00000302274.3_Missense_Mutation_p.A264V			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	264					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		ACACTATTCAGCTTTCGTTGT	0.438000													3	25					0	0	0.004672	0	0
OR5D14	219436	broad.mit.edu	37	11	55563508	55563508	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:55563508G>A	ENST00000335605.1	+	1	477	c.477G>A	c.(475-477)ttG>ttA	p.L159L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTGGCCCCTTGGTACTCCTTT	0.498000													10	73					0	0	0.006214	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725727	140725727	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:140725727C>T	ENST00000253812.6	+	1	2127	c.2127C>T	c.(2125-2127)atC>atT	p.I709I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCGTCATCGTGCTGCTGG	0.682000													33	146					0	0	0.005524	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41310302	41310302	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr22:41310302C>T	ENST00000357137.4	+	7	1113	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	XPNPEP3_ENST00000544094.1_Silent_p.I320I	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	343					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						TGAGTGACATCACACGTACGT	0.458000													8	56					0	0	0.003080	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143604	61143604	+	RNA	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:61143604G>A	ENST00000475015.1	-	0	734				C20orf166-AS1_ENST00000412495.1_RNA																							GGGGCTAAGGGGCCACTTGGG	0.652000													11	68					0	0	0.008291	0	0
SFXN5	94097	broad.mit.edu	37	2	73298765	73298765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:73298765G>A	ENST00000272433.2	-	1	200	c.70C>T	c.(70-72)Cct>Tct	p.P24S	SFXN5_ENST00000410065.1_Missense_Mutation_p.P24S	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	24					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						AGTTGGAAAGGAGGTGCATCG	0.657000													4	29					0	0	0.000602	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18142720	18142720	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:18142720C>T	ENST00000278816.2	+	6	1589	c.939C>T	c.(937-939)tcC>tcT	p.S313S	CSRP2BP_ENST00000377681.2_Silent_p.S312S|CSRP2BP_ENST00000489634.2_Silent_p.S185S|CSRP2BP_ENST00000435364.2_Silent_p.S313S			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	313					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTGACTTTTCCTCCTTGAGCT	0.527000													6	67					0	0	0.001984	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162338	90162338	+	RNA	SNP	T	T	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:90162338T>C	ENST00000567960.1	+	0	1074				TUBB8P7_ENST00000564451.1_RNA																							GACATCCCACTCCGGGGGCTA	0.483000													4	130					0	0	0.000602	0	0
SLC6A11	6538	broad.mit.edu	37	3	10960088	10960088	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:10960088G>A	ENST00000254488.2	+	8	1136	c.1070G>A	c.(1069-1071)gGt>gAt	p.G357D		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	357					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TCAGTCCTGGGTTTTATGGCG	0.587000													8	43					0	0	0.004482	0	0
NUCB1	4924	broad.mit.edu	37	19	49409139	49409139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:49409139C>T	ENST00000405315.4	+	4	707	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	NUCB1_ENST00000407032.1_Missense_Mutation_p.P125S|NUCB1_ENST00000263273.5_Missense_Mutation_p.P125S|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	125						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		CGAGCAGGATCCCAGTGAGCA	0.667000													6	31					0	0	0.001168	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19200962	19200962	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:19200962G>C	ENST00000375341.3	-	14	1831	c.1574C>G	c.(1573-1575)gCc>gGc	p.A525G	ALDH4A1_ENST00000290597.5_Missense_Mutation_p.A525G|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.A465G|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.A474G|RP13-279N23.2_ENST00000494072.3_3'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	525				RAS -> GSA (in Ref. 9; AA sequence).	proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	CTCACCAGAGGCTCGGGCCCC	0.592000													19	97					0	0	0.001523	0	0
NPAS4	266743	broad.mit.edu	37	11	66191061	66191061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:66191061G>A	ENST00000311034.2	+	6	997	c.821G>A	c.(820-822)gGa>gAa	p.G274E		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	274					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GCTGAGAGTGGAGATATTCAG	0.522000													9	85					0	0	0.000978	0	0
ZFP42	132625	broad.mit.edu	37	4	188924669	188924669	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:188924669C>T	ENST00000326866.4	+	4	1116	c.708C>T	c.(706-708)ttC>ttT	p.F236F	ZFP42_ENST00000509524.1_Silent_p.F236F	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	236					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AGAGACATTTCCTGGTTCATA	0.512000													10	59					0	0	0.006214	0	0
RBM10	8241	broad.mit.edu	37	X	47039321	47039321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:47039321C>T	ENST00000377604.3	+	10	1686	c.944C>T	c.(943-945)tCc>tTc	p.S315F	RBM10_ENST00000329236.7_Missense_Mutation_p.S238F|RBM10_ENST00000345781.6_Missense_Mutation_p.S238F|RBM10_ENST00000468791.1_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	315	RRM 2.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ACCATGGATTCCATCCTGGGG	0.602000													9	24					0	0	0.004482	0	0
HTR1A	3350	broad.mit.edu	37	5	63257242	63257242	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:63257242C>T	ENST00000323865.3	-	1	538	c.305G>A	c.(304-306)tGg>tAg	p.W102*	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	102					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCCCAGTGTCCACTTGTTGAG	0.587000													6	29					0	0	0.001168	0	0
FOXF1	2294	broad.mit.edu	37	16	86546578	86546578	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:86546578G>A	ENST00000262426.4	+	2	1070	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	343					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						TGACCGAAAGGAGTTTGTCTT	0.607000													10	68					0	0	0.008291	0	0
APOB	338	broad.mit.edu	37	2	21228131	21228131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:21228131G>A	ENST00000233242.1	-	26	11736	c.11609C>T	c.(11608-11610)tCt>tTt	p.S3870F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3870					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)	AGCAGGTACAGAGAACTTAAT	0.473000													20	141					0	0	0.008871	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048937	42048937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:42048937G>A	ENST00000372584.1	-	3	2546	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	HIVEP3_ENST00000247584.5_Missense_Mutation_p.S511F|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S511F|HIVEP3_ENST00000372583.1_Missense_Mutation_p.S511F	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	511	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCACTGTGGGATGACAGGGG	0.612000													11	133					0	0	0.008291	0	0
SSTR5	6755	broad.mit.edu	37	16	1129746	1129746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:1129746C>T	ENST00000293897.4	+	1	966	c.878C>T	c.(877-879)tCc>tTc	p.S293F	SSTR5_ENST00000397547.2_Missense_Mutation_p.S293F|SSTR5_ENST00000562758.1_Intron	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	293					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GTCATCCTCTCCTACGCCAAC	0.622000													6	42					0	0	0.001168	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21370151	21370151	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:21370151G>A	ENST00000256958.2	+	12	1692	c.1596G>A	c.(1594-1596)agG>agA	p.R532R		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	532					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CTTGTACAAGGAAATTTTACT	0.378000													8	49					0	0	0.003080	0	0
HRNR	388697	broad.mit.edu	37	1	152188230	152188230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:152188230C>T	ENST00000368801.2	-	3	5950	c.5875G>A	c.(5875-5877)Ggg>Agg	p.G1959R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1959					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGACTGCCCAGAACCAGAC	0.617000													15	1805					0	0	0.003080	0	0
TPP2	7174	broad.mit.edu	37	13	103279436	103279436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr13:103279436C>T	ENST00000376052.3	+	7	875	c.859C>T	c.(859-861)Cct>Tct	p.P287S	TPP2_ENST00000376065.4_Missense_Mutation_p.P287S			P29144	TPP2_HUMAN	tripeptidyl peptidase II	287					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGGGTAGCTCCTGGTGCTCA	0.463000													8	64					0	0	0.004482	0	0
NPHS1	4868	broad.mit.edu	37	19	36332637	36332637	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:36332637T>C	ENST00000378910.5	-	20	2794	c.2795A>G	c.(2794-2796)aAc>aGc	p.N932S	NPHS1_ENST00000353632.6_Missense_Mutation_p.N932S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	932	Ig-like C2-type 8.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGTTGAATGTTGGTTTGGTC	0.597000													20	73					0	0	0.003330	0	0
FBRS	64319	broad.mit.edu	37	16	30677847	30677847	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:30677847C>T	ENST00000356166.6	+	12	2876	c.1788C>T	c.(1786-1788)ttC>ttT	p.F596F	FBRS_ENST00000395073.2_5'UTR|FBRS_ENST00000287468.5_Silent_p.F76F|FBRS_ENST00000568722.1_Intron			Q9HAH7	FBRS_HUMAN	fibrosin	76										ovary(1)	1			Colorectal(24;0.103)			CCGACCATTTCCGGCCACCTT	0.587000													14	134					0	0	0.007413	0	0
TGM5	9333	broad.mit.edu	37	15	43552346	43552346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:43552346G>A	ENST00000220420.5	-	3	347	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	114					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AAGAGGTACCGACCCACGGCC	0.612000													14	149					0	0	0.002450	0	0
TEKT3	64518	broad.mit.edu	37	17	15231371	15231371	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:15231371G>A	ENST00000395930.1	-	4	787	c.601C>T	c.(601-603)Cat>Tat	p.H201Y	TEKT3_ENST00000338696.2_Missense_Mutation_p.H201Y	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	201					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TTTTCTCGATGAAATAGACAT	0.403000													8	37					0	0	0.006214	0	0
KRT16P2	400578	broad.mit.edu	37	17	16734763	16734763	+	RNA	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:16734763G>A	ENST00000579062.1	-	0	552																											TCCTCCTTCAGGCCTTCCATC	0.632000													6	70					0	0	0.004482	0	0
SH3BP2	6452	broad.mit.edu	37	4	2833690	2833690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:2833690C>T	ENST00000442312.2	+	10	1654	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	SH3BP2_ENST00000511747.1_Missense_Mutation_p.S464F|SH3BP2_ENST00000435136.2_Missense_Mutation_p.S464F|SH3BP2_ENST00000356331.5_Missense_Mutation_p.S464F|SH3BP2_ENST00000503393.2_Missense_Mutation_p.S521F|SH3BP2_ENST00000452765.2_Missense_Mutation_p.S464F	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN	SH3-domain binding protein 2	464	SH2.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ACCACGGAGTCCTGCGAAGTG	0.612000									Cherubism				13	52					0	0	0.004007	0	0
LMNB2	84823	broad.mit.edu	37	19	2433919	2433919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:2433919G>A	ENST00000325327.3	-	8	1449	c.1387C>T	c.(1387-1389)Cac>Tac	p.H463Y	LMNB2_ENST00000582871.1_Missense_Mutation_p.H443Y			Q03252	LMNB2_HUMAN	lamin B2	443	Tail.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		TGGGCCAGGTGGAAGCCACCG	0.677000													45	389					0	0	0.003214	0	0
MUC17	140453	broad.mit.edu	37	7	100674976	100674976	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:100674976G>A	ENST00000306151.4	+	3	343	c.279G>A	c.(277-279)tcG>tcA	p.S93S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	93	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)					AGATGACCTCGATTGAGTCCA	0.488000													17	48					0	0	0.004007	0	0
FAM193B	54540	broad.mit.edu	37	5	176958472	176958472	+	Silent	SNP	G	G	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:176958472G>T	ENST00000443375.2	-	7	2545	c.987C>A	c.(985-987)ctC>ctA	p.L329L	FAM193B_ENST00000514747.1_Intron|FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000329540.5_5'UTR			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	425										kidney(1)|large_intestine(3)	4						GCCTCGAGCGGAGCTTCTCCC	0.697000													5	26					5.9392e-07	8.57758e-07	0.001168	1	0
F11	2160	broad.mit.edu	37	4	187192920	187192920	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:187192920C>T	ENST00000264692.4	+	3	546	c.213C>T	c.(211-213)acC>acT	p.T71T	F11_ENST00000492972.2_Silent_p.T71T|F11_ENST00000403665.2_Silent_p.T71T			P03951	FA11_HUMAN	coagulation factor XI	71	Apple 1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AGGATCCCACCCGATGGTAAA	0.408000													5	57					0	0	0.000602	0	0
OR13C9	286362	broad.mit.edu	37	9	107380180	107380180	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr9:107380180G>A	ENST00000259362.1	-	1	305	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CCAAGCCAAGGAACATCTGCA	0.502000													7	31					0	0	0.003080	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20474841	20474841	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:20474841C>T	ENST00000375102.3	+	5	685	c.583C>T	c.(583-585)Cct>Tct	p.P195S		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	152					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TGAACCGCCCCCTGAGGAGGT	0.627000													14	94					0	0	0.002450	0	0
VSTM1	284415	broad.mit.edu	37	19	54561969	54561969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:54561969C>T	ENST00000338372.2	-	2	227	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	VSTM1_ENST00000376626.1_Missense_Mutation_p.E18K|VSTM1_ENST00000366170.2_5'UTR|VSTM1_ENST00000425006.2_Missense_Mutation_p.E18K	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	18						integral to membrane		p.E18K(1)		breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TTCTCATCTTCGTAGCCCAGA	0.403000													13	69					0	0	0.001368	0	0
RAD54L2	23132	broad.mit.edu	37	3	51694053	51694053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:51694053C>T	ENST00000409535.1	+	21	3453	c.3328C>T	c.(3328-3330)Cgt>Tgt	p.R1110C	RAD54L2_ENST00000296477.3_Missense_Mutation_p.R804C	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1110						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GACGTACATCCGTACCAGTGA	0.512000													4	23					0	0	0.000602	0	0
C7orf60	154743	broad.mit.edu	37	7	112462260	112462260	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:112462260G>A	ENST00000297145.4	-	5	922	c.757C>T	c.(757-759)Cct>Tct	p.P253S		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	253										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CGCTGGTAAGGAGATGGAAAA	0.403000													4	15					0	0	0.000248	0	0
ACAN	176	broad.mit.edu	37	15	89401744	89401744	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:89401744G>A	ENST00000439576.2	+	12	6302	c.5928G>A	c.(5926-5928)ggG>ggA	p.G1976G	ACAN_ENST00000561243.1_Silent_p.G1976G|ACAN_ENST00000559004.1_Silent_p.G1976G|ACAN_ENST00000352105.7_Silent_p.G1976G	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1976					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)			ACATGTCTGGGGAGCATTCTG	0.537000													11	44					0	0	0.000978	0	0
GPR63	81491	broad.mit.edu	37	6	97246999	97246999	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:97246999C>T	ENST00000229955.3	-	2	954	c.609G>A	c.(607-609)tgG>tgA	p.W203*	GPR63_ENST00000417980.1_Nonsense_Mutation_p.W203*	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	203						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.W203C(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AGGAAGTTGCCCAAGAAACTG	0.463000													7	36					0	0	0.001984	0	0
OR4D1	26689	broad.mit.edu	37	17	56232643	56232643	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:56232643C>T	ENST00000268912.5	+	1	150	c.129C>T	c.(127-129)ctC>ctT	p.L43L		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGGGAAACCTCCTTATCATGG	0.458000													21	218					0	0	0.001523	0	0
D2HGDH	728294	broad.mit.edu	37	2	242684288	242684288	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:242684288C>T	ENST00000321264.4	+	6	1058	c.849C>T	c.(847-849)ttC>ttT	p.F283F	D2HGDH_ENST00000342518.6_Silent_p.F283F|D2HGDH_ENST00000403782.1_Silent_p.F149F|D2HGDH_ENST00000537090.1_Silent_p.F283F	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	283					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		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;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-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;0.0833)		ACGTGGCTTTCCTCGGTGGGC	0.597000													26	186					0	0	0.004656	0	0
PTGFR	5737	broad.mit.edu	37	1	78958820	78958820	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:78958820T>A	ENST00000370756.3	+	2	629	c.392T>A	c.(391-393)aTt>aAt	p.I131N	PTGFR_ENST00000370758.1_Missense_Mutation_p.I131N|PTGFR_ENST00000370757.3_Missense_Mutation_p.I131N	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	131					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GTGATGGCCATTGAGCGGTGT	0.408000													16	109					0	0	0.003163	0	0
STIM1	6786	broad.mit.edu	37	11	4112672	4112672	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:4112672C>T	ENST00000300737.4	+	12	2271	c.1702C>T	c.(1702-1704)Ctg>Ttg	p.L568L	STIM1_ENST00000533977.1_Silent_p.L395L|STIM1_ENST00000527651.1_3'UTR	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	568					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)		CCCAGGGTCTCTGGTGGAGAA	0.622000													7	48					0	0	0.001984	0	0
DNAH11	8701	broad.mit.edu	37	7	21934593	21934593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:21934593C>T	ENST00000328843.6	+	80	13077	c.13046C>T	c.(13045-13047)cCt>cTt	p.P4349L	DNAH11_ENST00000409508.3_Missense_Mutation_p.P4342L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4349					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						CTGGCTTATCCTTCTACTTAT	0.522000									Kartagener syndrome				7	45					0	0	0.001984	0	0
CASZ1	54897	broad.mit.edu	37	1	10707917	10707917	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:10707917C>T	ENST00000377022.3	-	16	3755	c.3438G>A	c.(3436-3438)acG>acA	p.T1146T	CASZ1_ENST00000344008.5_Silent_p.T1146T|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CTAGAGAAGTCGTTGCCAAGG	0.642000													12	146					0	0	0.001855	0	0
PDGFRA	5156	broad.mit.edu	37	4	55131161	55131161	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:55131161G>C	ENST00000257290.5	+	5	1035	c.704G>C	c.(703-705)tGt>tCt	p.C235S	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	235	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.C235Y(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GTGGTCACCTGTGCTGTTTTT	0.443000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			7	42					0	0	0.001984	0	0
FZD10	11211	broad.mit.edu	37	12	130648594	130648594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:130648594C>T	ENST00000539839.1	+	1	1591	c.1009C>T	c.(1009-1011)Cct>Tct	p.P337S	FZD10_ENST00000229030.4_Silent_p.I369I	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCATCCTGATCCTGGTCATGC	0.667000													11	77					0	0	0.000978	0	0
HEPACAM	220296	broad.mit.edu	37	11	124794781	124794781	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:124794781G>A	ENST00000298251.4	-	2	675	c.270C>T	c.(268-270)acC>acT	p.T90T		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	90	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CAGGCCGCAGGGTGCCGATGA	0.592000													14	111					0	0	0.004990	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813462	106813462	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:106813462C>T	ENST00000407775.2	+	8	1402	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	ZFPM2_ENST00000520492.1_Silent_p.L252L|ZFPM2_ENST00000517361.1_Silent_p.L252L|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Silent_p.L115L	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	384					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)			ACCAGGAGCTCCATGTCCCTA	0.507000													8	57					0	0	0.003080	0	0
CRYAA	1409	broad.mit.edu	37	21	44589331	44589331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr21:44589331C>T	ENST00000291554.2	+	1	214	c.122C>T	c.(121-123)tCg>tTg	p.S41L	CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	41					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						CCCTTCCTGTCGTCCACCATC	0.632000													25	185					0	0	0.006320	0	0
CCNE2	9134	broad.mit.edu	37	8	95897774	95897774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:95897774G>A	ENST00000520509.1	-	8	865	c.613C>T	c.(613-615)Cct>Tct	p.P205S	CCNE2_ENST00000396133.3_Missense_Mutation_p.P205S|CCNE2_ENST00000308108.4_Missense_Mutation_p.P205S|CCNE2_ENST00000523476.1_5'UTR			O96020	CCNE2_HUMAN	cyclin E2	205					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TGGAGTTTAGGAGCATAGATT	0.313000													75	231					0	0	0.003610	0	0
SACS	26278	broad.mit.edu	37	13	23906876	23906876	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr13:23906876G>A	ENST00000382298.3	-	10	11727	c.11139C>T	c.(11137-11139)ccC>ccT	p.P3713P	SACS_ENST00000382292.3_Silent_p.P3713P|SACS_ENST00000402364.1_Silent_p.P2963P	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3713					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAATGCTTAAGGGTGTAGCTT	0.393000													4	37					0	0	0.000248	0	0
TUBAL3	79861	broad.mit.edu	37	10	5435758	5435758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:5435758G>A	ENST00000380419.3	-	4	1100	c.1063C>T	c.(1063-1065)Cca>Tca	p.P355S	TUBAL3_ENST00000479328.1_Missense_Mutation_p.P315S	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	355					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						AAACCAGTTGGACACCAATCT	0.567000													6	49					0	0	0.001168	0	0
C12orf36	283422	broad.mit.edu	37	12	13529165	13529165	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:13529165G>A	ENST00000318426.2	-	2	392	c.175C>T	c.(175-177)Ctg>Ttg	p.L59L	C12orf36_ENST00000527705.2_Silent_p.L59L|C12orf36_ENST00000531049.1_5'UTR|C12orf36_ENST00000532841.1_Silent_p.L59L|C12orf36_ENST00000539026.1_Silent_p.L59L					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		cacctccacagcctctgagtc	0.498000													6	40					0	0	0.003080	0	0
ABCC10	89845	broad.mit.edu	37	6	43402442	43402442	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:43402442C>T	ENST00000244533.3	+	2	1694	c.1335C>T	c.(1333-1335)tgC>tgT	p.C445C	ABCC10_ENST00000372530.4_Silent_p.C488C|ABCC10_ENST00000443426.2_3'UTR	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	488	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TAGAGGCCTGCCGGGCTCGAG	0.592000													56	155					0	0	0.003610	0	0
PRRC2C	23215	broad.mit.edu	37	1	171553299	171553299	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:171553299C>T	ENST00000367742.3	+	29	7856	c.7614C>T	c.(7612-7614)tcC>tcT	p.S2538S	PRRC2C_ENST00000426496.2_Silent_p.S2471S|PRRC2C_ENST00000338920.4_Silent_p.S2536S|PRRC2C_ENST00000392078.3_Silent_p.S2538S			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2536	Gln-rich.						protein C-terminus binding										TAGGAGGTTCCCAGCTGATTG	0.448000													5	38					0	0	0.001168	0	0
KIRREL	55243	broad.mit.edu	37	1	158059518	158059518	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:158059518C>T	ENST00000368172.1	+	6	636	c.624C>T	c.(622-624)atC>atT	p.I208I	KIRREL_ENST00000392272.2_Silent_p.I291I|KIRREL_ENST00000359209.6_Silent_p.I394I|KIRREL_ENST00000368173.3_Silent_p.I410I|KIRREL_ENST00000360089.4_Silent_p.I230I|KIRREL_ENST00000416935.2_Silent_p.I294I			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	394	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGCCCCCCATCATCTCCAGTG	0.597000													18	127					0	0	0.001523	0	0
SLC6A20	54716	broad.mit.edu	37	3	45823681	45823681	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:45823681G>A	ENST00000358525.4	-	2	271	c.156C>T	c.(154-156)atC>atT	p.I52I	SLC6A20_ENST00000456124.2_Silent_p.I52I|SLC6A20_ENST00000353278.4_Silent_p.I52I	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	52					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TTCCCTCCACGATAAGCATGA	0.592000													12	67					0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9088962	9088962	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:9088962G>A	ENST00000397910.4	-	1	3056	c.2853C>T	c.(2851-2853)acC>acT	p.T951T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	951	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						TGTCTCTATTGGTCTGTGACA	0.483000													7	53					0	0	0.001984	0	0
GDF2	2658	broad.mit.edu	37	10	48416570	48416570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:48416570C>T	ENST00000249598.1	-	1	283	c.124G>A	c.(124-126)Ggg>Agg	p.G42R		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	42					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCAGGCACCCCCAGTGGGCTG	0.637000													7	39					0	0	0.001984	0	0
DDN	23109	broad.mit.edu	37	12	49390535	49390535	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:49390535C>T	ENST00000421952.2	-	2	2145	c.2124G>A	c.(2122-2124)agG>agA	p.R708R		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	708	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						ACTGCCTCTTCCTATTTCCCT	0.547000											OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	71					0	0	0.003163	0	0
PSD4	23550	broad.mit.edu	37	2	113950695	113950695	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:113950695C>T	ENST00000245796.6	+	7	2104	c.1909C>T	c.(1909-1911)Cga>Tga	p.R637*	PSD4_ENST00000441564.2_Nonsense_Mutation_p.R609*	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	637	SEC7.		R -> Q (in dbSNP:rs45487591).		regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGTCTGGACCGAGCCCTCCG	0.597000													7	54					0	0	0.003080	0	0
DPH2	1802	broad.mit.edu	37	1	44437692	44437692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:44437692C>T	ENST00000255108.3	+	4	1290	c.1118C>T	c.(1117-1119)cCa>cTa	p.P373L	DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Missense_Mutation_p.P238L	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	373					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCTGCCTGGCCACCTCCAGGC	0.602000													24	74					0	0	0.002780	0	0
RASAL3	64926	broad.mit.edu	37	19	15562672	15562672	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:15562672C>T	ENST00000343625.6	-	18	3050	c.2970G>A	c.(2968-2970)agG>agA	p.R990R		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	990					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						ACCCCCGCGTCCTTGGAGAAA	0.612000													19	112					0	0	0.007413	0	0
SYT15	83849	broad.mit.edu	37	10	46967552	46967552	+	Silent	SNP	T	T	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:46967552T>C	ENST00000374323.3	-	3	1271	c.684A>G	c.(682-684)caA>caG	p.Q228Q	SYT15_ENST00000503753.1_Silent_p.Q175Q|SYT15_ENST00000374321.4_Silent_p.Q175Q|SYT15_ENST00000374325.3_Silent_p.Q175Q			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	175	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCGAGGGGGCTTGCAGGTGCT	0.637000													10	147					0	0	0.006214	0	0
CCDC67	159989	broad.mit.edu	37	11	93170761	93170761	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:93170761T>A	ENST00000298050.3	+	14	1791	c.1691T>A	c.(1690-1692)cTg>cAg	p.L564Q	CCDC67_ENST00000525646.1_Missense_Mutation_p.L306Q	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	564										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CATTTCCTTCTGGAAGAAGAG	0.373000													7	37					0	0	0.001984	0	0
NEK3	4752	broad.mit.edu	37	13	52728269	52728269	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr13:52728269G>A	ENST00000400357.2	-	2	1450	c.157C>T	c.(157-159)Ctt>Ttt	p.L53F	NEK3_ENST00000339406.3_Missense_Mutation_p.L53F|NEK3_ENST00000452082.2_Missense_Mutation_p.L74F|NEK3_ENST00000378101.2_Missense_Mutation_p.L53F			P51956	NEK3_HUMAN	NIMA-related kinase 3	53	Interaction with VAV2.|Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TTGGCTAAAAGAACAGCCTCC	0.299000													4	22					0	0	0.000602	0	0
PSG6	5675	broad.mit.edu	37	19	43414918	43414918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:43414918C>T	ENST00000187910.2	-	3	585	c.520G>A	c.(520-522)Gat>Aat	p.D174N	PSG6_ENST00000292125.2_Missense_Mutation_p.D174N|PSG6_ENST00000402603.4_Missense_Mutation_p.D174N	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TAGCTTGCATCCGGAGTCTCA	0.537000													34	125					0	0	0.002096	0	0
NID1	4811	broad.mit.edu	37	1	236154240	236154240	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:236154240G>A	ENST00000264187.6	-	14	2956	c.2874C>T	c.(2872-2874)ccC>ccT	p.P958P	NID1_ENST00000366595.3_Silent_p.P825P	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	958					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TTCCCTCCAGGGGCAGGCGCT	0.572000													11	87					0	0	0.008291	0	0
DNAH17	8632	broad.mit.edu	37	17	76548857	76548857	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:76548857G>A	ENST00000389840.5	-	15	2333	c.2209C>T	c.(2209-2211)Cta>Tta	p.L737L	DNAH17_ENST00000585328.1_Silent_p.L737L					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)			TTTATTAGTAGAAATTCTACT	0.413000													27	186					0	0	0.002096	0	0
WSCD2	9671	broad.mit.edu	37	12	108618519	108618519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:108618519G>A	ENST00000332082.4	+	6	1504	c.686G>A	c.(685-687)gGa>gAa	p.G229E	WSCD2_ENST00000549903.1_Missense_Mutation_p.G229E|WSCD2_ENST00000547525.1_Missense_Mutation_p.G229E|WSCD2_ENST00000261400.3_Missense_Mutation_p.G229E			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	229						integral to membrane		p.G229V(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TCTTCAGATGGAAGTGCAGTG	0.522000													9	59					0	0	0.006214	0	0
CLDN18	51208	broad.mit.edu	37	3	137742645	137742645	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:137742645G>A	ENST00000183605.5	+	2	592	c.366G>A	c.(364-366)ggG>ggA	p.G122G	CLDN18_ENST00000343735.4_Silent_p.G122G	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	122					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						TGACCTCCGGGATCATGTTCA	0.493000													6	35					0	0	0.006214	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			72	157					4.01556e-35	5.87853e-35	0.003610	1	0
OR6C75	390323	broad.mit.edu	37	12	55759684	55759684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:55759684G>A	ENST00000343399.3	+	1	790	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TTCTGCCAGAGAAAGGGTGAC	0.418000													3	8					0	0	0.004672	0	0
OSMR	9180	broad.mit.edu	37	5	38933161	38933161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:38933161C>T	ENST00000274276.3	+	18	2957	c.2555C>T	c.(2554-2556)cCc>cTc	p.P852L		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	852					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GGCCCTGGCCCCTGCATCTGT	0.493000													25	102					0	0	0.004656	0	0
OXR1	55074	broad.mit.edu	37	8	107705067	107705067	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:107705067T>A	ENST00000445937.1	+	7	898	c.637T>A	c.(637-639)Ttt>Att	p.F213I	OXR1_ENST00000442977.2_Missense_Mutation_p.F214I|OXR1_ENST00000312046.6_Missense_Mutation_p.F206I|OXR1_ENST00000531443.1_Missense_Mutation_p.F213I|OXR1_ENST00000497705.1_Missense_Mutation_p.F146I|OXR1_ENST00000517566.2_Missense_Mutation_p.F213I|OXR1_ENST00000452423.2_5'UTR	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	214	GRAM.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TACTGAGAAATTTCTTAAAAT	0.358000													10	30					0	0	0.006214	0	0
PLD2	5338	broad.mit.edu	37	17	4722096	4722096	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:4722096C>T	ENST00000263088.6	+	21	2282	c.2151C>T	c.(2149-2151)atC>atT	p.I717I	PLD2_ENST00000572940.1_Silent_p.I717I	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	717	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AGTATTCAATCCTGCATCGCC	0.637000													14	145					0	0	0.007413	0	0
RGS12	6002	broad.mit.edu	37	4	3417785	3417785	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:3417785C>T	ENST00000336727.3	+	7	3268	c.2364C>T	c.(2362-2364)gcC>gcT	p.A788A	RGS12_ENST00000382788.3_Silent_p.A788A|RGS12_ENST00000344733.5_Silent_p.A788A|RGS12_ENST00000338806.4_Silent_p.A140A|RGS12_ENST00000306648.7_Silent_p.A186A|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000538395.1_Silent_p.A130A	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	788	RGS.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACAGCCAGGCCCAGCTAGCAG	0.597000													7	57					0	0	0.001984	0	0
EGFL6	25975	broad.mit.edu	37	X	13645196	13645196	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:13645196T>G	ENST00000361306.1	+	11	1609	c.1352T>G	c.(1351-1353)cTt>cGt	p.L451R	EGFL6_ENST00000380602.3_Missense_Mutation_p.L452R	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	451	MAM.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CGATTGAAACTTCTCCTACCT	0.453000													12	92					0	0	0.000978	0	0
BICC1	80114	broad.mit.edu	37	10	60566913	60566913	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:60566913T>C	ENST00000373886.3	+	17	2375	c.2371T>C	c.(2371-2373)Tat>Cat	p.Y791H	BICC1_ENST00000263103.1_Missense_Mutation_p.Y417H	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	791					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GACAACCACTTATGAGGTTTG	0.458000													3	19					0	0	0.000248	0	0
PYGO1	26108	broad.mit.edu	37	15	55838771	55838771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:55838771G>A	ENST00000302000.6	-	3	804	c.710C>T	c.(709-711)cCa>cTa	p.P237L	PYGO1_ENST00000563719.1_Missense_Mutation_p.P237L	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	237	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GTCTTGTTTTGGGGGTGGTGC	0.373000													5	21					0	0	0.001168	0	0
MACF1	23499	broad.mit.edu	37	1	39824449	39824449	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:39824449C>T	ENST00000564288.1	+	46	12801	c.12024C>T	c.(12022-12024)gcC>gcT	p.A4008A	MACF1_ENST00000567887.1_Silent_p.A4045A|MACF1_ENST00000539005.1_Silent_p.A1946A|MACF1_ENST00000289893.4_Silent_p.A2448A|MACF1_ENST00000545844.1_Silent_p.A1946A|MACF1_ENST00000317713.7_Silent_p.A1946A|MACF1_ENST00000372915.3_Silent_p.A4013A|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Silent_p.A1946A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4013					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCTGCAGGCCTGGATGCAGG	0.502000													5	48					0	0	0.000602	0	0
FAM83G	644815	broad.mit.edu	37	17	18881077	18881077	+	Silent	SNP	T	T	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:18881077T>A	ENST00000388995.6	-	5	2125	c.1902A>T	c.(1900-1902)tcA>tcT	p.S634S	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Silent_p.S634S|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Silent_p.S634S|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	634										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCACTTGCTCTGAGTGGCGCC	0.667000													10	58					0	0	0.008291	0	0
TRPV5	56302	broad.mit.edu	37	7	142609822	142609822	+	Silent	SNP	G	G	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:142609822G>C	ENST00000265310.1	-	13	1962	c.1614C>G	c.(1612-1614)ctC>ctG	p.L538L		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	538					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CAATAACAGTGAGAAAAAGCT	0.493000													25	92					0	0	0.004656	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904456	73904456	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:73904456C>T	ENST00000342056.2	+	15	2573	c.2175C>T	c.(2173-2175)agC>agT	p.S725S	KCNQ5_ENST00000403813.2_Silent_p.S697S|KCNQ5_ENST00000402622.2_Silent_p.S716S|KCNQ5_ENST00000370398.1_Silent_p.S706S|KCNQ5_ENST00000355635.3_Silent_p.S707S|KCNQ5_ENST00000355194.4_Silent_p.S706S|KCNQ5_ENST00000414165.2_Silent_p.S596S	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	706					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ACGCGCTTAGCCCTACTATGC	0.502000													9	68					0	0	0.006214	0	0
THADA	63892	broad.mit.edu	37	2	43519317	43519317	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:43519317G>A	ENST00000405006.4	-	33	5214	c.4863C>T	c.(4861-4863)ccC>ccT	p.P1621P	THADA_ENST00000415080.2_Silent_p.P1302P|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Silent_p.P1621P	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1621							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GCTCCGTCTGGGGAAGCCACT	0.473000													27	384					0	0	0.006320	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43808517	43808517	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr21:43808517G>A	ENST00000291532.3	-	5	1396	c.441C>T	c.(439-441)ttC>ttT	p.F147F	TMPRSS3_ENST00000380399.1_Silent_p.F231F|TMPRSS3_ENST00000433957.2_Silent_p.F147F|TMPRSS3_ENST00000398405.1_Silent_p.F145F|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000398397.3_Silent_p.F147F	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	147	SRCR.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CTTACCTTGGGAAACCCAGTT	0.483000													13	81					0	0	0.001855	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820805	35820805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:35820805G>A	ENST00000399989.1	+	2	771	c.492G>A	c.(490-492)atG>atA	p.M164I	MAGEB16_ENST00000399987.1_Missense_Mutation_p.M164I|MAGEB16_ENST00000399992.1_Missense_Mutation_p.M196I|MAGEB16_ENST00000399985.1_Missense_Mutation_p.M164I|MAGEB16_ENST00000399988.1_Missense_Mutation_p.M164I	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	164	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ACCTAGAGATGATATTTGGCC	0.468000													6	61					0	0	0.001168	0	0
PDZD2	23037	broad.mit.edu	37	5	32074434	32074434	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:32074434G>A	ENST00000438447.1	+	18	3610	c.3222G>A	c.(3220-3222)tgG>tgA	p.W1074*	PDZD2_ENST00000282493.3_Nonsense_Mutation_p.W1074*			O15018	PDZD2_HUMAN	PDZ domain containing 2	1074					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAAGCTGGTGGAAGAAGGAAC	0.587000													21	124					0	0	0.003330	0	0
MED13L	23389	broad.mit.edu	37	12	116422133	116422133	+	Silent	SNP	A	A	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:116422133A>C	ENST00000281928.3	-	20	4589	c.4383T>G	c.(4381-4383)cgT>cgG	p.R1461R		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1461					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGATCCCGTCACGTAGCACTT	0.488000													3	18					0	0	0.000248	0	0
DVL2	1856	broad.mit.edu	37	17	7130544	7130544	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:7130544G>C	ENST00000005340.5	-	13	1690	c.1408C>G	c.(1408-1410)Cct>Gct	p.P470A	DVL2_ENST00000575458.1_Missense_Mutation_p.P464A	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	470	DEP.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CGCCGCTCAGGAAAGCCCTCC	0.577000													12	125					0	0	0.004007	0	0
TTPAL	79183	broad.mit.edu	37	20	43108650	43108650	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:43108650A>C	ENST00000372904.3	+	3	154	c.11A>C	c.(10-12)gAa>gCa	p.E4A	TTPAL_ENST00000262605.4_Missense_Mutation_p.E4A|TTPAL_ENST00000372906.2_Missense_Mutation_p.E4A	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	4						intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						ATGTCCGAAGAAAGTGACTCT	0.507000													12	61					0	0	0.003163	0	0
ITGA2B	3674	broad.mit.edu	37	17	42451818	42451818	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:42451818C>T	ENST00000262407.5	-	29	2995	c.2964G>A	c.(2962-2964)cgG>cgA	p.R988R	ITGA2B_ENST00000353281.4_Silent_p.R954R	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	988					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CCTCCAAGGCCCGGAGCAGCT	0.607000													12	119					0	0	0.000978	0	0
GABRE	2564	broad.mit.edu	37	X	151123984	151123984	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:151123984G>A	ENST00000370325.1	-	8	1046	c.993C>T	c.(991-993)ttC>ttT	p.F331F	GABRE_ENST00000370328.3_Silent_p.F331F|GABRE_ENST00000483564.1_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	331					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGACACGCGGGAAATTCTTAC	0.507000													11	61					0	0	0.002450	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140756033	140756033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:140756033C>T	ENST00000517434.1	+	1	2383	c.2383C>T	c.(2383-2385)Cag>Tag	p.Q795*	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGATAACTCAGGATTTACT	0.478000													7	66					0	0	0.004482	0	0
DNAJC7	7266	broad.mit.edu	37	17	40169387	40169387	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:40169387C>T	ENST00000457167.4	-	1	284	c.48G>A	c.(46-48)ccG>ccA	p.P16P	NKIRAS2_ENST00000307641.5_5'UTR|DNAJC7_ENST00000316603.7_5'UTR	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	16					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				CGAGCAGCTCCGGCTCGGTCG	0.652000													16	139					0	0	0.003163	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952318	119952318	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:119952318C>T	ENST00000307142.4	+	4	2584	c.2388C>T	c.(2386-2388)aaC>aaT	p.N796N	SYNPO2_ENST00000429713.2_Silent_p.N796N|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Silent_p.N796N	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	796	Pro-rich.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCACATCCAACCCATCAAAGG	0.567000													7	52					0	0	0.001984	0	0
MACF1	23499	broad.mit.edu	37	1	39824448	39824448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:39824448C>T	ENST00000564288.1	+	46	12800	c.12023C>T	c.(12022-12024)gCc>gTc	p.A4008V	MACF1_ENST00000567887.1_Missense_Mutation_p.A4045V|MACF1_ENST00000539005.1_Missense_Mutation_p.A1946V|MACF1_ENST00000289893.4_Missense_Mutation_p.A2448V|MACF1_ENST00000545844.1_Missense_Mutation_p.A1946V|MACF1_ENST00000317713.7_Missense_Mutation_p.A1946V|MACF1_ENST00000372915.3_Missense_Mutation_p.A4013V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.A1946V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4013					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGCCTGCAGGCCTGGATGCAG	0.502000													5	47					0	0	0.000602	0	0
THADA	63892	broad.mit.edu	37	2	43519316	43519316	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:43519316G>A	ENST00000405006.4	-	33	5215	c.4864C>T	c.(4864-4866)Cag>Tag	p.Q1622*	THADA_ENST00000415080.2_Nonsense_Mutation_p.Q1303*|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Nonsense_Mutation_p.Q1622*	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1622							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TGCTCCGTCTGGGGAAGCCAC	0.478000													28	385					0	0	0.007291	0	0
PRDX2	7001	broad.mit.edu	37	19	12911973	12911973	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:12911973C>T	ENST00000301522.2	-	2	231	c.103_splice	c.e2+1	p.G35_splice	PRDX2_ENST00000334482.5_Splice_Site_p.G35_splice|PRDX2_ENST00000435703.1_Splice_Site_p.G35_splice|CTD-2659N19.10_ENST00000585496.1_RNA	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	35	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CGGCGCTCACCTTTGTAGTCC	0.642000													6	41					0	0	0.001168	0	0
RGS14	10636	broad.mit.edu	37	5	176794828	176794828	+	Splice_Site	SNP	T	T	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:176794828T>G	ENST00000408923.3	+	7	927		c.e7+2			NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14						chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			TCCGCCGGGGTGAGGGCAGGA	0.652000													9	40					0	0	0.004482	0	0
ZNF23	7571	broad.mit.edu	37	16	71482269	71482269	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:71482269G>A	ENST00000393539.2	-	6	2472	c.1659C>T	c.(1657-1659)atC>atT	p.I553I	ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000564528.1_Silent_p.I495I|ZNF23_ENST00000417828.1_Silent_p.I553I|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000357254.4_Silent_p.I553I|ZNF23_ENST00000428724.2_Silent_p.I495I|ZNF23_ENST00000497160.1_3'UTR|RP11-510M2.10_ENST00000576258.1_RNA	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		CTCCTGTATGGATTCTCTGGT	0.433000													5	38					0	0	0.000602	0	0
AATF	26574	broad.mit.edu	37	17	35346599	35346599	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:35346599G>T	ENST00000225402.5	+	7	1454	c.1203G>T	c.(1201-1203)atG>atT	p.M401I		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	401	RB1 and SP1 binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				ATATTCTGATGGACAAAGAGA	0.473000													22	125					5.35356e-11	7.79171e-11	0.002780	1	0
TRIML2	205860	broad.mit.edu	37	4	189020158	189020158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:189020158G>A	ENST00000536972.1	-	5	899	c.652C>T	c.(652-654)Cat>Tat	p.H218Y	TRIML2_ENST00000326754.3_Intron|TRIML2_ENST00000512729.1_Intron			Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	0	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATACTGGAATGAATTTTATTT	0.428000													5	17					0	0	0.000602	0	0
PEX5	5830	broad.mit.edu	37	12	7361078	7361078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:7361078C>T	ENST00000266563.5	+	12	1279	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	PEX5_ENST00000412720.2_Nonsense_Mutation_p.Q424*|PEX5_ENST00000420616.2_Nonsense_Mutation_p.Q403*|PEX5_ENST00000455147.2_Nonsense_Mutation_p.Q403*|PEX5_ENST00000266564.3_Nonsense_Mutation_p.Q395*|PEX5_ENST00000434354.2_Nonsense_Mutation_p.Q418*	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	403					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GCCAGATAACCAGACAGCACT	0.552000													7	30					0	0	0.004482	0	0
ZBTB40	9923	broad.mit.edu	37	1	22837755	22837755	+	Silent	SNP	G	G	A	rs140676819	byFrequency	TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:22837755G>A	ENST00000404138.1	+	11	2428	c.1917G>A	c.(1915-1917)ccG>ccA	p.P639P	ZBTB40_ENST00000374651.4_Silent_p.P527P|ZBTB40_ENST00000375647.4_Silent_p.P639P	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	639					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AATCAGTCCCGGCCATTGAAA	0.517000													10	42					0	0	0.006214	0	0
UBB	7314	broad.mit.edu	37	17	16285788	16285788	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:16285788C>T	ENST00000302182.3	+	2	959	c.567C>T	c.(565-567)ccC>ccT	p.P189P	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.P189P|UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Silent_p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	189	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.P189P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCCCCCGACCAGC	0.552000													4	102					0	0	0.000248	0	0
MAGED1	9500	broad.mit.edu	37	X	51643356	51643356	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:51643356G>A	ENST00000375695.2	+	12	2244	c.2091G>A	c.(2089-2091)gaG>gaA	p.E697E	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Silent_p.E641E|MAGED1_ENST00000326587.7_Silent_p.E641E|MAGED1_ENST00000375722.1_Silent_p.E641E	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	641					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCTACCATGAGACTAGCAAGA	0.498000										Multiple Myeloma(10;0.10)			7	27					0	0	0.001984	0	0
FAM83A	84985	broad.mit.edu	37	8	124206263	124206263	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:124206263G>A	ENST00000518448.1	+	4	2662		c.e4-1		FAM83A_ENST00000546351.1_Splice_Site|FAM83A_ENST00000536633.1_Splice_Site|FAM83A_ENST00000318462.6_Splice_Site|FAM83A_ENST00000522648.1_Splice_Site|FAM83A_ENST00000276699.6_Splice_Site			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CCCTCCAACAGAACATTTCCA	0.463000													4	32					0	0	0.000602	0	0
SORCS3	22986	broad.mit.edu	37	10	106959778	106959778	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:106959778C>T	ENST00000369701.3	+	15	2258	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	677						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACTTCAGCCTCCGCTCCGAAT	0.498000													3	13					0	0	0.004672	0	0
IGSF9B	22997	broad.mit.edu	37	11	133801388	133801388	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:133801388G>A	ENST00000321016.8	-	10	1558	c.1328C>T	c.(1327-1329)gCt>gTt	p.A443V	IGSF9B_ENST00000533871.2_Missense_Mutation_p.A443V			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	443	Ig-like 5.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCCTGCGGCAGCACAGGGGAT	0.662000													8	72					0	0	0.003080	0	0
USP26	83844	broad.mit.edu	37	X	132161158	132161158	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:132161158A>G	ENST00000511190.1	-	6	1560	c.1091T>C	c.(1090-1092)cTt>cCt	p.L364P	USP26_ENST00000406273.1_Missense_Mutation_p.L364P|USP26_ENST00000370832.1_Missense_Mutation_p.L364P	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	364			L -> F.		protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.L364P(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GGCCTTTTTAAGATTCAAGAG	0.373000													3	26					0	0	0.004672	0	0
SH3TC1	54436	broad.mit.edu	37	4	8218683	8218683	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:8218683G>A	ENST00000539824.1	+	7	774		c.e7-1		SH3TC1_ENST00000245105.3_Splice_Site			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1								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						TCCTTTTGAAGGGCCCTTCTT	0.652000													17	78					0	0	0.008871	0	0
PLCD3	113026	broad.mit.edu	37	17	43194126	43194126	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:43194126G>A	ENST00000322765.5	-	8	1399	c.1286C>T	c.(1285-1287)tCc>tTc	p.S429F	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	429	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	GTTCTCCAGGGATAGGATGAC	0.647000													15	83					0	0	0.008871	0	0
SEH1L	81929	broad.mit.edu	37	18	12984128	12984128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr18:12984128C>T	ENST00000262124.11	+	8	1136	c.1009C>T	c.(1009-1011)Cct>Tct	p.P337S	SEH1L_ENST00000592582.1_3'UTR|SEH1L_ENST00000399892.2_Missense_Mutation_p.P337S	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	337					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						AACCTCAAATCCTTCCCTAGG	0.413000													20	77					0	0	0.008871	0	0
RCAN1	1827	broad.mit.edu	37	21	35895908	35895908	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr21:35895908G>A	ENST00000481448.1	-	3	809	c.323C>T	c.(322-324)tCc>tTc	p.S108F	RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000487990.1_5'UTR|RCAN1_ENST00000443408.2_5'UTR|RCAN1_ENST00000381135.3_Missense_Mutation_p.S108F|RCAN1_ENST00000381132.2_Missense_Mutation_p.S63F|RCAN1_ENST00000482533.1_5'UTR|RCAN1_ENST00000313806.4_Missense_Mutation_p.S118F|RCAN1_ENST00000399272.1_Missense_Mutation_p.S37F			P53805	RCAN1_HUMAN	regulator of calcineurin 1	118					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						ATCTGCTGCGGAGAAGGGGTT	0.443000													75	665					0	0	0.003610	0	0
COL12A1	1303	broad.mit.edu	37	6	75797361	75797361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:75797361G>A	ENST00000322507.8	-	65	9422	c.9113C>T	c.(9112-9114)cCa>cTa	p.P3038L	COL12A1_ENST00000416123.2_Missense_Mutation_p.P2962L|COL12A1_ENST00000483888.2_Missense_Mutation_p.P3034L|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1874L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	3038	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGGAGGACCTGGGGGTCCTCG	0.577000													19	153					0	0	0.001523	0	0
PSG5	5673	broad.mit.edu	37	19	43689221	43689221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:43689221C>T	ENST00000404580.1	-	2	231	c.143G>A	c.(142-144)gGg>gAg	p.G48E	PSG5_ENST00000366175.3_Missense_Mutation_p.G48E|PSG5_ENST00000407568.1_Missense_Mutation_p.G48E|PSG5_ENST00000407356.1_Missense_Mutation_p.G48E|PSG5_ENST00000342951.6_Missense_Mutation_p.G48E|PSG5_ENST00000599812.1_Missense_Mutation_p.G48E|PSG5_ENST00000401992.1_5'UTR			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	48	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AACATCCTTCCCCTCGGAAAC	0.463000													33	167					0	0	0.002096	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454713	84454713	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr13:84454713C>T	ENST00000377084.2	-	1	1815	c.930G>A	c.(928-930)aaG>aaA	p.K310K		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	310						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGCCTGGGATCTTTGTACCTC	0.537000													14	71					0	0	0.001855	0	0
BLK	640	broad.mit.edu	37	8	11420487	11420487	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:11420487G>A	ENST00000259089.4	+	12	1772		c.e12-1		BLK_ENST00000529894.1_Splice_Site	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase						intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	p.?(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TTTTCCCACAGGGGCCAAGTT	0.612000													8	78					0	0	0.006214	0	0
ILDR1	286676	broad.mit.edu	37	3	121712524	121712524	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:121712524G>A	ENST00000273691.3	-	6	1045	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	ILDR1_ENST00000344209.5_Missense_Mutation_p.P358S|ILDR1_ENST00000393631.1_Missense_Mutation_p.P269S|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.P326S	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	358						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GGCCTGGAGGGAATTGGGGTG	0.602000													11	56					0	0	0.001368	0	0
GPR128	84873	broad.mit.edu	37	3	100364864	100364864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:100364864C>T	ENST00000273352.3	+	9	1290	c.1022C>T	c.(1021-1023)tCg>tTg	p.S341L	GPR128_ENST00000475887.1_Missense_Mutation_p.S46L	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	341					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ACAGCTAAATCGGATTTTAGT	0.333000													6	23					0	0	0.001168	0	0
IL10RA	3587	broad.mit.edu	37	11	117869672	117869672	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:117869672G>A	ENST00000227752.3	+	7	1173	c.1053G>A	c.(1051-1053)agG>agA	p.R351R	IL10RA_ENST00000541785.1_Silent_p.R331R|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Silent_p.R202R	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	351			R -> G (in dbSNP:rs2229113).			integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TGGGAAACAGGGAGCCCCCTG	0.642000													11	50					0	0	0.000978	0	0
FHOD1	29109	broad.mit.edu	37	16	67273330	67273330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:67273330G>A	ENST00000258201.4	-	2	476	c.229C>T	c.(229-231)Ccc>Tcc	p.P77S	FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	77	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TATCCGGAGGGAGACACTTGC	0.567000													12	86					0	0	0.001368	0	0
TRPM6	140803	broad.mit.edu	37	9	77448962	77448962	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr9:77448962G>A	ENST00000451710.3	-	6	858	c.621C>T	c.(619-621)atC>atT	p.I207I	TRPM6_ENST00000359047.2_Silent_p.I207I|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Silent_p.I202I|TRPM6_ENST00000376864.4_Silent_p.I207I|TRPM6_ENST00000376871.3_Silent_p.I207I|TRPM6_ENST00000376872.3_Silent_p.I207I|TRPM6_ENST00000361255.3_Silent_p.I202I|TRPM6_ENST00000360774.1_Silent_p.I207I			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	207					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCCAAGGAGGGATTCCAACTG	0.423000													6	40					0	0	0.001984	0	0
ABCA12	26154	broad.mit.edu	37	2	215884507	215884507	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:215884507C>T	ENST00000272895.7	-	12	1520	c.1301G>A	c.(1300-1302)cGa>cAa	p.R434Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.R116Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	434					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGTCAAGTTTCGAAGTTGAGA	0.363000													4	26					0	0	0.000602	0	0
TP73	7161	broad.mit.edu	37	1	3624233	3624233	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:3624233A>G	ENST00000378295.4	+	4	462	c.307A>G	c.(307-309)Agc>Ggc	p.S103G	TP73_ENST00000378280.1_Missense_Mutation_p.S54G|TP73_ENST00000378290.4_Missense_Mutation_p.S32G|TP73_ENST00000354437.4_Missense_Mutation_p.S103G|TP73_ENST00000357733.3_Missense_Mutation_p.S103G|TP73_ENST00000378285.1_Missense_Mutation_p.S54G|TP73_ENST00000603362.1_Missense_Mutation_p.S103G|TP73_ENST00000346387.4_Missense_Mutation_p.S103G|TP73_ENST00000378288.4_Missense_Mutation_p.S54G|TP73_ENST00000604074.1_Missense_Mutation_p.S103G|TP73_ENST00000604479.1_Missense_Mutation_p.S103G	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	103					cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CGCACAACCCAGCTCCACCTT	0.672000													12	103					0	0	0.001855	0	0
MRPL38	64978	broad.mit.edu	37	17	73895042	73895042	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:73895042G>A	ENST00000309352.3	-	9	1569	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000409963.3_Silent_p.F160F	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	344						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGGCCGCACGAACTCAAACA	0.672000													5	23					0	0	0.001168	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793308	65793308	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:65793308G>A	ENST00000312106.5	-	1	680	c.543C>T	c.(541-543)ccC>ccT	p.P181P		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	181	His-rich.				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						TGGGTCCATGGGGGAGGTAGG	0.592000													14	88					0	0	0.002450	0	0
SDS	10993	broad.mit.edu	37	12	113835157	113835157	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:113835157G>A	ENST00000257549.4	-	6	588	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	156					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TTTTCCCACAGTGTCTCCTTC	0.677000													14	82					0	0	0.002450	0	0
NRK	203447	broad.mit.edu	37	X	105168906	105168906	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:105168906C>T	ENST00000428173.2	+	19	3501	c.3198C>T	c.(3196-3198)gtC>gtT	p.V1066V	NRK_ENST00000243300.9_Silent_p.V1065V			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1065							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GTAAGGGAGTCGTTCGAACCA	0.507000										HNSCC(51;0.14)			3	12					0	0	0.004672	0	0
TCFL5	10732	broad.mit.edu	37	20	61485473	61485473	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:61485473G>A	ENST00000335351.3	-	5	1367	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L	TCFL5_ENST00000217162.5_Silent_p.L377L	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	425	Helix-loop-helix motif.				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					ACGGCACTAAGAGATTCAACT	0.463000													6	68					0	0	0.001168	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169911	57169911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:57169911G>A	ENST00000371244.4	+	7	1122	c.1056G>A	c.(1054-1056)atG>atA	p.M352I		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	352					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GTTCTTTTATGGATGATAGTG	0.468000													18	51					0	0	0.006122	0	0
SELV	348303	broad.mit.edu	37	19	40009732	40009732	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:40009732G>A	ENST00000335426.4	+	5	1085	c.985G>A	c.(985-987)Gag>Aag	p.E329K	SELV_ENST00000423711.1_Missense_Mutation_p.E329K	NM_182704.1	NP_874363.1	P59797	SELV_HUMAN		329					cell redox homeostasis		selenium binding			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTTTGTGAACGAGTCCAGGCT	0.592000													8	74					0	0	0.003080	0	0
PRDM15	63977	broad.mit.edu	37	21	43277340	43277340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr21:43277340G>A	ENST00000422911.1	-	4	442	c.341C>T	c.(340-342)cCc>cTc	p.P114L	PRDM15_ENST00000269844.3_Missense_Mutation_p.P443L|PRDM15_ENST00000447207.2_Missense_Mutation_p.P77L|PRDM15_ENST00000398548.1_Missense_Mutation_p.P114L|PRDM15_ENST00000538201.1_Missense_Mutation_p.P77L			P57071	PRD15_HUMAN	PR domain containing 15	443					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						GGACTCAAAGGGACCGAACTG	0.547000													8	149					0	0	0.006214	0	0
DRGX	644168	broad.mit.edu	37	10	50594617	50594617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:50594617G>A	ENST00000374139.2	-	5	443	c.433C>T	c.(433-435)Cct>Tct	p.P145S	DRGX_ENST00000434016.1_Missense_Mutation_p.P150S			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	150					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GGCCCTGCAGGACCTACCGTT	0.627000													4	7					0	0	0.000602	0	0
ST18	9705	broad.mit.edu	37	8	53085133	53085133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:53085133C>T	ENST00000276480.7	-	10	971	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	96						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TAGGTTTTATCATGATTTCCT	0.318000													4	26					0	0	0.000602	0	0
INTS6	26512	broad.mit.edu	37	13	51950221	51950221	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr13:51950221C>T	ENST00000311234.4	-	13	2164	c.1692G>A	c.(1690-1692)ttG>ttA	p.L564L	INTS6_ENST00000490542.1_Silent_p.L248L|INTS6_ENST00000425000.1_Silent_p.L132L|INTS6_ENST00000497989.1_Silent_p.L386L|INTS6_ENST00000398119.2_Silent_p.L551L|INTS6_ENST00000463928.1_Intron	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	564					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GAGTGCTCTTCAAAAGATTAG	0.318000													5	25					0	0	0.001984	0	0
NRXN1	9378	broad.mit.edu	37	2	50779744	50779744	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:50779744G>A	ENST00000404971.1	-	10	3199	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Silent_p.F572F|NRXN1_ENST00000401669.2_Silent_p.F580F|NRXN1_ENST00000406316.2_Silent_p.F580F|NRXN1_ENST00000402717.3_Silent_p.F572F|NRXN1_ENST00000406859.3_Silent_p.F580F	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	580	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGTCTCTCTGGAAGTCCACAT	0.453000													17	94					0	0	0.007413	0	0
KLC4	89953	broad.mit.edu	37	6	43030828	43030828	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:43030828G>A	ENST00000394056.2	+	4	927	c.432G>A	c.(430-432)aaG>aaA	p.K144K	KLC4_ENST00000479388.1_Silent_p.K144K|KLC4_ENST00000394058.1_Silent_p.K144K|KLC4_ENST00000347162.5_Silent_p.K144K|KLC4_ENST00000259708.3_Silent_p.K162K|KLC4_ENST00000458460.2_Silent_p.K144K|KLC4_ENST00000453940.2_Intron			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	144						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			AGGAGGAAAAGAAGCACCTGG	0.632000													8	88					0	0	0.003080	0	0
NSRP1	84081	broad.mit.edu	37	17	28512396	28512396	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:28512396A>G	ENST00000247026.5	+	7	1444	c.1381A>G	c.(1381-1383)Agg>Ggg	p.R461G	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	461					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						CCCAAATTCTAGGGCAAAGGA	0.353000													3	29					0	0	0.004672	0	0
TAF1	6872	broad.mit.edu	37	X	70598119	70598119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:70598119C>T	ENST00000449580.1	+	7	1016	c.965C>T	c.(964-966)tCc>tTc	p.S322F	TAF1_ENST00000373790.4_Missense_Mutation_p.S322F|TAF1_ENST00000423759.1_Missense_Mutation_p.S343F|TAF1_ENST00000276072.3_Missense_Mutation_p.S343F			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	322	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TCCAAATTTTCCCAATCAACT	0.468000													4	35					0	0	0.000248	0	0
MUC16	94025	broad.mit.edu	37	19	9063015	9063015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:9063015C>T	ENST00000397910.4	-	3	24634	c.24431G>A	c.(24430-24432)gGa>gAa	p.G8144E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8146	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						AGTGGGCACTCCAGAAAGGAC	0.542000													4	22					0	0	0.000248	0	0
COL11A2	1302	broad.mit.edu	37	6	33139255	33139255	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:33139255C>T	ENST00000341947.2	-	43	3474	c.3247G>A	c.(3247-3249)Gat>Aat	p.D1083N	COL11A2_ENST00000374708.4_Missense_Mutation_p.D997N|COL11A2_ENST00000357486.1_Missense_Mutation_p.D1062N|COL11A2_ENST00000395197.1_Missense_Mutation_p.D1023N|COL11A2_ENST00000374712.1_Missense_Mutation_p.D1002N|COL11A2_ENST00000374713.1_Missense_Mutation_p.D1036N|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Missense_Mutation_p.D976N|COL11A2_ENST00000374714.1_Missense_Mutation_p.D1057N	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1083	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						TTGTCTCCATCCTCTCCAGCC	0.627000													9	52					0	0	0.006214	0	0
ARAP2	116984	broad.mit.edu	37	4	36069761	36069761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:36069761C>T	ENST00000303965.4	-	33	5372	c.4883G>A	c.(4882-4884)cGa>cAa	p.R1628Q		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1628					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CCGATGTTTTCGGGGTCGATT	0.507000													4	17					0	0	0.000248	0	0
SLC17A1	6568	broad.mit.edu	37	6	25799037	25799037	+	Silent	SNP	T	T	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:25799037T>C	ENST00000244527.4	-	12	1495	c.1380A>G	c.(1378-1380)aaA>aaG	p.K460K	SLC17A1_ENST00000476801.1_Silent_p.K460K|SLC17A1_ENST00000427328.1_Silent_p.K406K|SLC17A1_ENST00000468082.1_Silent_p.K406K	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	460					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.K460K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GTTGTTTTTCTTTAGCCCAGT	0.428000													9	44					0	0	0.008291	0	0
GAPVD1	26130	broad.mit.edu	37	9	128083743	128083743	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr9:128083743A>C	ENST00000470056.1	+	8	1794	c.1634A>C	c.(1633-1635)cAa>cCa	p.Q545P	GAPVD1_ENST00000394105.2_Missense_Mutation_p.Q545P|GAPVD1_ENST00000495955.1_Missense_Mutation_p.Q545P|GAPVD1_ENST00000312123.9_Missense_Mutation_p.Q545P|GAPVD1_ENST00000394083.2_Missense_Mutation_p.Q545P|GAPVD1_ENST00000394104.2_Missense_Mutation_p.Q545P|GAPVD1_ENST00000265956.4_Missense_Mutation_p.Q545P|GAPVD1_ENST00000297933.6_Missense_Mutation_p.Q545P			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	545					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GATGGAGGACAAGGAGATGTC	0.383000													4	51					0	0	0.000248	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118006337	118006337	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:118006337G>A	ENST00000310754.4	-	1	399	c.213C>T	c.(211-213)tcC>tcT	p.S71S		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	71					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AATAATAGAGGGACTTTGAGC	0.453000													6	38					0	0	0.001984	0	0
SMARCD1	6602	broad.mit.edu	37	12	50480090	50480090	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:50480090C>T	ENST00000394963.4	+	2	722	c.324C>T	c.(322-324)atC>atT	p.I108I	SMARCD1_ENST00000381513.4_Silent_p.I108I	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	108	Interaction with ESR1, NR1H4, NR3C1, PGR and SMARCA4.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CTCAGCAGATCCAGCAGGTCC	0.632000													6	66					0	0	0.001984	0	0
PRRG3	79057	broad.mit.edu	37	X	150868496	150868496	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:150868496G>A	ENST00000370353.3	+	3	426	c.36G>A	c.(34-36)tcG>tcA	p.S12S	PRRG3_ENST00000538575.1_Silent_p.S12S|PRRG3_ENST00000370354.1_Silent_p.S20S			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	12						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ATGCCCATTCGGTCCTGAAAC	0.607000													11	73					0	0	0.008291	0	0
FOXF1	2294	broad.mit.edu	37	16	86546577	86546577	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:86546577G>A	ENST00000262426.4	+	2	1069	c.1026G>A	c.(1024-1026)aaG>aaA	p.K342K		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	342					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GTGACCGAAAGGAGTTTGTCT	0.607000													10	69					0	0	0.008291	0	0
MYO18B	84700	broad.mit.edu	37	22	26164562	26164562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr22:26164562G>A	ENST00000335473.7	+	4	929	c.679G>A	c.(679-681)Gga>Aga	p.G227R	MYO18B_ENST00000536101.1_Missense_Mutation_p.G227R|MYO18B_ENST00000407587.2_Missense_Mutation_p.G227R	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	227						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						CCCAGGCCAAGGAACTGTGGC	0.617000													5	20					0	0	0.000602	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605331	140605331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:140605331G>A	ENST00000239449.4	+	1	2254	c.2254G>A	c.(2254-2256)Gag>Aag	p.E752K	PCDHB14_ENST00000515856.2_Missense_Mutation_p.E599K	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		752					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.E752K(1)		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)			CTACCAATACGAGGTGTGTCT	0.572000													22	201					0	0	0.002299	0	0
AOC1	26	broad.mit.edu	37	7	150556110	150556110	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:150556110G>A	ENST00000493429.1	+	5	2414	c.1830G>A	c.(1828-1830)caG>caA	p.Q610Q	AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000467291.1_Silent_p.Q610Q|AOC1_ENST00000360937.4_Silent_p.Q610Q|AOC1_ENST00000416793.2_Silent_p.Q610Q					amine oxidase, copper containing 1																		CAGGCTGGCAGGAGGAGCAGG	0.647000													4	17					0	0	0.000248	0	0
CLSTN2	64084	broad.mit.edu	37	3	140282952	140282952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:140282952G>A	ENST00000458420.3	+	16	2822	c.2632G>A	c.(2632-2634)Gat>Aat	p.D878N		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	878					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGACTGGGACGATTCTGCGCT	0.582000										HNSCC(16;0.037)			5	35					0	0	0.000602	0	0
FBXO24	26261	broad.mit.edu	37	7	100198504	100198504	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:100198504C>T	ENST00000241071.6	+	10	2047	c.1725C>T	c.(1723-1725)ccC>ccT	p.P575P	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.P613P|FBXO24_ENST00000468962.1_Silent_p.P563P|FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000544873.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	575						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGTAGGGCCCCCAGCCCCTG	0.632000													23	76					0	0	0.002780	0	0
TUBAL3	79861	broad.mit.edu	37	10	5435757	5435757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:5435757G>A	ENST00000380419.3	-	4	1101	c.1064C>T	c.(1063-1065)cCa>cTa	p.P355L	TUBAL3_ENST00000479328.1_Missense_Mutation_p.P315L	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	355					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GAAACCAGTTGGACACCAATC	0.567000													6	49					0	0	0.001168	0	0
PKM	5315	broad.mit.edu	37	15	72501167	72501167	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:72501167G>A	ENST00000319622.6	-	6	1087	c.631C>T	c.(631-633)Ctt>Ttt	p.L211F	PKM_ENST00000449901.2_Missense_Mutation_p.L196F|PKM_ENST00000389093.3_Missense_Mutation_p.L211F|PKM_ENST00000335181.5_Missense_Mutation_p.L211F|PKM_ENST00000568883.1_Missense_Mutation_p.L46F|PKM_ENST00000568459.1_Missense_Mutation_p.L211F|PKM_ENST00000565154.1_Missense_Mutation_p.L211F|PKM_ENST00000565184.1_Missense_Mutation_p.L211F	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						GCCCCAGGAAGGTTCACACCC	0.542000													4	33					0	0	0.000602	0	0
CADPS	8618	broad.mit.edu	37	3	62385086	62385086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:62385086C>T	ENST00000383710.4	-	30	4406	c.4057G>A	c.(4057-4059)Gat>Aat	p.D1353N	CADPS_ENST00000283269.9_Missense_Mutation_p.D1314N|CADPS_ENST00000357948.3_Missense_Mutation_p.D1274N	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1353	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATGGTCTAATCGTCTTCTTCG	0.488000													5	22					0	0	0.000602	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20474840	20474840	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:20474840C>T	ENST00000375102.3	+	5	684	c.582C>T	c.(580-582)ccC>ccT	p.P194P		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	151					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		ATGAACCGCCCCCTGAGGAGG	0.622000													14	96					0	0	0.002450	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138432301	138432301	+	Missense_Mutation	SNP	T	T	G	rs140896827		TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:138432301T>G	ENST00000310018.2	-	13	1471	c.1189A>C	c.(1189-1191)Acc>Ccc	p.T397P	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.T397P|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.T397P	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	397					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTGATGATGGTGTAGGGGGCT	0.577000													6	36					0	0	0.001168	0	0
INPP5D	3635	broad.mit.edu	37	2	234078776	234078776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:234078776G>A	ENST00000359570.5	+	17	1721	c.1721G>A	c.(1720-1722)gGg>gAg	p.G574E	INPP5D_ENST00000538935.1_Missense_Mutation_p.G573E|INPP5D_ENST00000455936.2_Missense_Mutation_p.G338E|INPP5D_ENST00000450745.1_Missense_Mutation_p.G338E			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	586					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TTCTGGTTTGGGGATCTTAAC	0.557000													8	66					0	0	0.003080	0	0
POLR2A	5430	broad.mit.edu	37	17	7402610	7402610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:7402610C>T	ENST00000322644.6	+	10	1870	c.1471C>T	c.(1471-1473)Ccg>Tcg	p.P491S	POLR2A_ENST00000572844.1_Missense_Mutation_p.P491S	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	491					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TGTGACAACTCCGTACAATGC	0.547000													8	46					0	0	0.003080	0	0
ZBTB3	79842	broad.mit.edu	37	11	62520117	62520117	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:62520117C>T	ENST00000394807.3	-	2	1295	c.1170G>A	c.(1168-1170)caG>caA	p.Q390Q		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GCTGGGAGGGCTGTGCCCCAT	0.562000													9	71					0	0	0.004482	0	0
MYBPC3	4607	broad.mit.edu	37	11	47360953	47360953	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:47360953C>T	ENST00000399249.2	-	21	2124	c.2070G>A	c.(2068-2070)ggG>ggA	p.G690G	MYBPC3_ENST00000256993.4_Silent_p.G689G|MYBPC3_ENST00000545968.1_Silent_p.G690G			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	689	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGGCCTTATTCCCCTGGGAAC	0.617000													24	149					0	0	0.003954	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813481	106813481	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:106813481C>A	ENST00000407775.2	+	8	1421	c.1171C>A	c.(1171-1173)Ctt>Att	p.L391I	ZFPM2_ENST00000520492.1_Missense_Mutation_p.L259I|ZFPM2_ENST00000517361.1_Missense_Mutation_p.L259I|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.L122I	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	391					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)			TAGCGGCAAACTTCCCAGAGA	0.517000													7	41					0.00198382	0.00281635	0.001984	1	0
PSG4	5672	broad.mit.edu	37	19	43708311	43708311	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:43708311G>T	ENST00000405312.3	-	2	394	c.157C>A	c.(157-159)Cta>Ata	p.L53I	PSG4_ENST00000433626.2_Missense_Mutation_p.L53I|PSG4_ENST00000244295.9_Missense_Mutation_p.L53I	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	53	Ig-like V-type.				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)				TGGACAAGTAGAAGAACATCC	0.458000													24	210					9.57634e-11	1.39107e-10	0.003330	1	0
KCNJ9	3765	broad.mit.edu	37	1	160054080	160054080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:160054080G>A	ENST00000368088.3	+	2	502	c.260G>A	c.(259-261)gGc>gAc	p.G87D		NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	87					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TACGGCCGCGGCGACCTGGAG	0.657000													5	49					0	0	0.001168	0	0
ABCB5	340273	broad.mit.edu	37	7	20721180	20721180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:20721180G>A	ENST00000404938.2	+	15	2412	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	ABCB5_ENST00000258738.6_Missense_Mutation_p.R142Q	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	142	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.R142Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCTACTATTCGAAGTGCAGAT	0.403000													9	46					0	0	0.004482	0	0
REST	5978	broad.mit.edu	37	4	57797293	57797293	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:57797293C>T	ENST00000309042.7	+	4	2583	c.2269C>T	c.(2269-2271)Cag>Tag	p.Q757*		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	757	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	p.M753_P768delMEVVQKEPVKIELSPP(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GGAGGTGGTCCAGAAGGAACC	0.552000													36	247					0	0	0.004289	0	0
PTPRM	5797	broad.mit.edu	37	18	8376576	8376576	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr18:8376576T>G	ENST00000332175.8	+	24	4441	c.3404T>G	c.(3403-3405)gTg>gGg	p.V1135G	PTPRM_ENST00000444013.1_Missense_Mutation_p.V922G|PTPRM_ENST00000400053.4_Missense_Mutation_p.V1073G|PTPRM_ENST00000400060.4_Missense_Mutation_p.V1149G|PTPRM_ENST00000580170.1_Missense_Mutation_p.V1148G	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1135	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TCACGGAGGGTGAACATGGTG	0.572000													10	59					0	0	0.006214	0	0
TENM4	26011	broad.mit.edu	37	11	78369244	78369244	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:78369244C>T	ENST00000278550.7	-	34	8631	c.8169G>A	c.(8167-8169)ggG>ggA	p.G2723G		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GCTGCTTCTCCCCCTCTGTCC	0.657000													15	104					0	0	0.004007	0	0
NPAP1	23742	broad.mit.edu	37	15	24922056	24922056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:24922056C>T	ENST00000329468.2	+	1	1516	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GCTGTGGGATCGAGGTGAGCT	0.567000													11	63					0	0	0.008291	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032136	46032136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr21:46032136C>T	ENST00000334662.2	+	1	141	c.119C>T	c.(118-120)tCc>tTc	p.S40F	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	40	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						ACTGGCTCCTCCTGGCAGGTG	0.642000													15	86					0	0	0.004007	0	0
ICAM2	3384	broad.mit.edu	37	17	62083993	62083993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:62083993G>A	ENST00000412356.1	-	3	413	c.59C>T	c.(58-60)cCa>cTa	p.P20L	ICAM2_ENST00000579788.1_Missense_Mutation_p.P20L|ICAM2_ENST00000579687.1_Missense_Mutation_p.P20L|ICAM2_ENST00000578892.1_Missense_Mutation_p.P20L|ICAM2_ENST00000578379.1_5'UTR|ICAM2_ENST00000449662.2_Missense_Mutation_p.P20L|ICAM2_ENST00000418105.1_Missense_Mutation_p.P20L|ICAM2_ENST00000581417.1_5'UTR	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	20					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						TGGCTTACCTGGACAGCAGAT	0.597000													8	34					0	0	0.006214	0	0
MDC1	9656	broad.mit.edu	37	6	30672858	30672858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:30672858G>A	ENST00000376406.3	-	10	4749	c.4102C>T	c.(4102-4104)Cct>Tct	p.P1368S	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.P1104S	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1368	Interaction with the PRKDC complex.|Pro-rich.				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						GGGGCTATAGGGACAGTTGAT	0.547000								Other conserved DNA damage response genes					23	271					0	0	0.002299	0	0
OR6T1	219874	broad.mit.edu	37	11	123814138	123814138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:123814138C>T	ENST00000321252.2	-	1	442	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CATGGCCATTCATCAGGGTCT	0.552000													4	18					0	0	0.000602	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029765	13029765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:13029765G>A	ENST00000399002.2	+	2	564	c.290G>A	c.(289-291)aGa>aAa	p.R97K	SPTLC3_ENST00000476791.1_3'UTR|SPTLC3_ENST00000378194.4_Missense_Mutation_p.R97K	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	97					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GCTGTGGAAAGAAAAGAACAA	0.428000													3	5					0	0	0.004672	0	0
AMIGO1	57463	broad.mit.edu	37	1	110051031	110051031	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:110051031G>A	ENST00000369864.4	-	2	853	c.504C>T	c.(502-504)aaC>aaT	p.N168N	AMIGO1_ENST00000369862.1_Silent_p.N168N			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	168					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GAGAGATCTGGTTCTGGCTCA	0.527000													20	232					0	0	0.001882	0	0
MIR527	574497	broad.mit.edu	37	19	54257293	54257293	+	RNA	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:54257293G>A	ENST00000385244.1	+	0	22					NR_030219.1																						GACTGCAAAGGGAAGCCCTTT	0.418000													17	93					0	0	0.003330	0	0
MYO3A	53904	broad.mit.edu	37	10	26359144	26359144	+	Splice_Site	SNP	G	G	A	rs77562287	byFrequency	TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:26359144G>A	ENST00000265944.5	+	13	1441	c.1275_splice	c.e13+1	p.Q425_splice	MYO3A_ENST00000543632.1_Splice_Site_p.Q425_splice	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	425	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATTCAGATCAGGTAAGAAGAG	0.333000													11	34					0	0	0.008291	0	0
ZNF569	148266	broad.mit.edu	37	19	37905009	37905009	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:37905009G>T	ENST00000316950.6	-	6	1108	c.551C>A	c.(550-552)aCc>aAc	p.T184N	ZNF569_ENST00000392149.2_Missense_Mutation_p.T184N|ZNF569_ENST00000392150.2_Missense_Mutation_p.T25N	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTAAAGGGGGTAATGACAAA	0.373000													6	28					0.00116845	0.00166194	0.001168	1	0
RUVBL2	10856	broad.mit.edu	37	19	49514511	49514511	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:49514511C>T	ENST00000413176.2	+	11	1958	c.810C>T	c.(808-810)gcC>gcT	p.A270A	RUVBL2_ENST00000601968.1_Silent_p.A270A|RUVBL2_ENST00000595090.1_Silent_p.A315A			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	315					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		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)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		TCAACCGGGCCCTGGAGAGTG	0.612000													16	57					0	0	0.004990	0	0
STRADA	92335	broad.mit.edu	37	17	61781861	61781861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:61781861G>A	ENST00000392950.4	-	9	1102	c.829C>T	c.(829-831)Cct>Tct	p.P277S	STRADA_ENST00000582137.1_Missense_Mutation_p.P285S|STRADA_ENST00000245865.5_3'UTR|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000447001.3_Missense_Mutation_p.P270S|STRADA_ENST00000579340.1_3'UTR|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000336174.6_Missense_Mutation_p.P314S|STRADA_ENST00000375840.4_Missense_Mutation_p.P256S	NM_001003786.2|NM_001165969.1|NM_153335.5	NP_001003786.1|NP_001159441.1|NP_699166.2	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	314	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						GAGCGCGAAGGGCTCATGGTC	0.637000													14	96					0	0	0.007413	0	0
KLC1	3831	broad.mit.edu	37	14	104123953	104123953	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr14:104123953G>T	ENST00000389744.4	+	3	601	c.332G>T	c.(331-333)cGt>cTt	p.R111L	KLC1_ENST00000557450.1_Missense_Mutation_p.R111L|KLC1_ENST00000348520.6_Missense_Mutation_p.R111L|KLC1_ENST00000553286.1_Missense_Mutation_p.R111L|KLC1_ENST00000452929.2_Missense_Mutation_p.R111L|KLC1_ENST00000347839.6_Missense_Mutation_p.R111L|KLC1_ENST00000445352.4_Missense_Mutation_p.R111L|KLC1_ENST00000380038.3_Missense_Mutation_p.R111L|KLC1_ENST00000334553.6_Missense_Mutation_p.R111L|KLC1_ENST00000555836.1_Missense_Mutation_p.R111L|KLC1_ENST00000554280.1_Missense_Mutation_p.R111L|KLC1_ENST00000557575.1_Missense_Mutation_p.R111L|KLC1_ENST00000246489.7_Missense_Mutation_p.R111L|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.R283L			Q07866	KLC1_HUMAN	kinesin light chain 1	111					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GCGCAGGTTCGTCGTCTGTGC	0.537000													8	73					0.000274275	0.000391598	0.004482	1	0
APBB2	323	broad.mit.edu	37	4	40832536	40832536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:40832536G>A	ENST00000295974.8	-	13	2214	c.1585C>T	c.(1585-1587)Cga>Tga	p.R529*	APBB2_ENST00000543538.1_5'UTR|APBB2_ENST00000504305.1_5'UTR|APBB2_ENST00000502841.1_5'UTR|APBB2_ENST00000506352.1_Nonsense_Mutation_p.R508*|APBB2_ENST00000513140.1_Nonsense_Mutation_p.R508*|APBB2_ENST00000508593.1_Nonsense_Mutation_p.R530*	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	529	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GTGTCACATCGAAATACATGA	0.433000													5	42					0	0	0.000602	0	0
CDH9	1007	broad.mit.edu	37	5	26881634	26881634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:26881634C>T	ENST00000231021.4	-	12	2153	c.1981G>A	c.(1981-1983)Gat>Aat	p.D661N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	661					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D661Y(1)		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						CCGCCTTCATCGTTGTAGGTC	0.438000													7	45					0	0	0.001984	0	0
NOTCH4	4855	broad.mit.edu	37	6	32190334	32190334	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:32190334G>A	ENST00000375023.3	-	3	543	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	135	EGF-like 3.				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						CCGAGGCCTGGATGTGGCAGC	0.637000													65	483					0	0	0.003610	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480581	140480581	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:140480581C>T	ENST00000231130.2	+	1	348	c.348C>T	c.(346-348)ttC>ttT	p.F116F	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		116	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTGCAATTCGTTACAAACG	0.418000													15	114					0	0	0.003163	0	0
C1orf177	163747	broad.mit.edu	37	1	55271815	55271815	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:55271815G>A	ENST00000358193.3	+	1	80	c.26G>A	c.(25-27)gGa>gAa	p.G9E	C1orf177_ENST00000371273.3_Missense_Mutation_p.G9E	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	9										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GATGCCGCCGGAGCTCATGGC	0.721000													12	12					0	0	0.004007	0	0
CCDC110	256309	broad.mit.edu	37	4	186380140	186380140	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:186380140A>G	ENST00000307588.3	-	6	1676	c.1601T>C	c.(1600-1602)tTa>tCa	p.L534S	CCDC110_ENST00000510617.1_Missense_Mutation_p.L534S|CCDC110_ENST00000393540.3_Missense_Mutation_p.L497S	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	534						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTGCTTCTCTAAAGAAAGTTG	0.274000													6	23					0	0	0.001984	0	0
FSD2	123722	broad.mit.edu	37	15	83455736	83455736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:83455736C>T	ENST00000334574.8	-	2	588	c.407G>A	c.(406-408)gGg>gAg	p.G136E	FSD2_ENST00000541889.1_Missense_Mutation_p.G136E			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	136										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TGAGCCCCACCCTCCGAAGCC	0.592000													5	61					0	0	0.001168	0	0
CDC6	990	broad.mit.edu	37	17	38457848	38457848	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:38457848C>T	ENST00000209728.4	+	11	2052	c.1581C>T	c.(1579-1581)acC>acT	p.T527T		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	527					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						ACAAGGAAACCCGTTTGACAA	0.413000													8	103					0	0	0.006214	0	0
FNBP1	23048	broad.mit.edu	37	9	132678258	132678258	+	Splice_Site	SNP	A	A	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr9:132678258A>C	ENST00000446176.2	-	11	1358	c.1170_splice	c.e11-1	p.L391_splice	FNBP1_ENST00000478129.1_Intron|FNBP1_ENST00000420781.1_Intron|FNBP1_ENST00000443566.2_Splice_Site_p.L19_splice|FNBP1_ENST00000355681.3_Splice_Site_p.L362_splice	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	391	Required for self-association and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CTTGAGAGAAAGCTTCATGTA	0.393000			T	MLL	AML								3	16					0	0	0.004672	0	0
CCDC33	80125	broad.mit.edu	37	15	74627341	74627341	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:74627341G>A	ENST00000321288.5	+	21	2762	c.2762G>A	c.(2761-2763)gGa>gAa	p.G921E	CCDC33_ENST00000558821.1_Missense_Mutation_p.G277E|CCDC33_ENST00000398814.3_Missense_Mutation_p.G684E|CCDC33_ENST00000268082.4_Missense_Mutation_p.G311E			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	887							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGACGCTGGGGACGAGAGAAG	0.577000													9	78					0	0	0.000978	0	0
ADH1B	125	broad.mit.edu	37	4	100235078	100235078	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:100235078T>C	ENST00000305046.8	-	6	795	c.728A>G	c.(727-729)aAc>aGc	p.N243S	ADH1B_ENST00000394887.3_Missense_Mutation_p.N203S			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	243					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GTCTTGAGGGTTGATGCATTC	0.473000													19	155					0	0	0.003330	0	0
EOMES	8320	broad.mit.edu	37	3	27761806	27761806	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:27761806G>A	ENST00000295743.4	-	2	1095	c.892C>T	c.(892-894)Cct>Tct	p.P298S	EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000537516.1_Missense_Mutation_p.P3S|EOMES_ENST00000449599.1_Missense_Mutation_p.P298S			O95936	EOMES_HUMAN	eomesodermin	298					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						CTCAAGAAAGGAAACATGCGC	0.537000													17	151					0	0	0.004990	0	0
CDC6	990	broad.mit.edu	37	17	38457849	38457849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:38457849C>T	ENST00000209728.4	+	11	2053	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	528					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	p.R528S(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CAAGGAAACCCGTTTGACAAA	0.413000													8	102					0	0	0.006214	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546213	112546213	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:112546213C>T	ENST00000488794.1	-	5	957		c.e5+1		CD200R1L_ENST00000448932.1_Splice_Site|CD200R1L_ENST00000398214.1_Splice_Site			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like							integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						ATGCTCCTTACCTAACACTTG	0.428000													5	40					0	0	0.000602	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29231446	29231446	+	RNA	SNP	T	T	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:29231446T>C	ENST00000441381.1	+	0	79																											CTTGACAGAGTTGGGGGTTCA	0.498000													15	76					0	0	0.006122	0	0
KCNQ3	3786	broad.mit.edu	37	8	133182620	133182620	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:133182620C>T	ENST00000388996.4	-	8	1616	c.1196G>A	c.(1195-1197)tGg>tAg	p.W399*	KCNQ3_ENST00000521134.1_Nonsense_Mutation_p.W279*|KCNQ3_ENST00000519445.1_Nonsense_Mutation_p.W399*	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	399					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATAAAATCTCCATGTCGCCAC	0.532000													5	32					0	0	0.001168	0	0
LLGL2	3993	broad.mit.edu	37	17	73569591	73569591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:73569591G>A	ENST00000392550.3	+	21	2872	c.2755G>A	c.(2755-2757)Gag>Aag	p.E919K	LLGL2_ENST00000577200.1_Missense_Mutation_p.E919K|LLGL2_ENST00000167462.5_Missense_Mutation_p.E919K	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	919					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTCGGAGTTTGAGCGCTTCTC	0.642000													22	188					0	0	0.003954	0	0
PNPLA6	10908	broad.mit.edu	37	19	7626392	7626392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:7626392C>T	ENST00000221249.6	+	35	4359	c.3928C>T	c.(3928-3930)Ctc>Ttc	p.L1310F	PNPLA6_ENST00000600737.1_Missense_Mutation_p.L1348F|PNPLA6_ENST00000545201.2_Missense_Mutation_p.L1283F|PNPLA6_ENST00000450331.3_Missense_Mutation_p.L1310F|PNPLA6_ENST00000414982.3_Missense_Mutation_p.L1358F	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1349					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GAAGTCGATTCTCCGGCAACG	0.652000													5	20					0	0	0.001984	0	0
TENM1	10178	broad.mit.edu	37	X	123654524	123654524	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:123654524C>T	ENST00000422452.2	-	18	3207	c.3144G>A	c.(3142-3144)acG>acA	p.T1048T	TENM1_ENST00000371130.3_Silent_p.T1048T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTACAGGAATCGTTGAATGTG	0.493000													9	20					0	0	0.008291	0	0
PCED1B	91523	broad.mit.edu	37	12	47629420	47629420	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:47629420G>A	ENST00000546455.1	+	4	1305	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	PCED1B_ENST00000432328.1_Missense_Mutation_p.E192K					PC-esterase domain containing 1B																		CCTGAAAAACGAAGTGGTCAA	0.582000													6	48					0	0	0.001168	0	0
SHH	6469	broad.mit.edu	37	7	155604658	155604658	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:155604658C>T	ENST00000297261.2	-	1	309	c.159G>A	c.(157-159)gaG>gaA	p.E53E		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	53			E -> K (in HPE3).		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTAGGGTCTTCTCGGCCACAT	0.557000													106	338					0	0	0.003610	0	0
SUN5	140732	broad.mit.edu	37	20	31572976	31572976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:31572976G>A	ENST00000356173.3	-	12	1005	c.913C>T	c.(913-915)Ccc>Tcc	p.P305S	SUN5_ENST00000375523.3_Missense_Mutation_p.P280S	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	305	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TCCTCCTTGGGGGAGCCCTCC	0.577000													13	79					0	0	0.003163	0	0
ENC1	8507	broad.mit.edu	37	5	73931417	73931417	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:73931417G>A	ENST00000302351.4	-	2	2024	c.894C>T	c.(892-894)ttC>ttT	p.F298F	ENC1_ENST00000537006.1_Silent_p.F298F|ENC1_ENST00000510316.1_Silent_p.F225F	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	298					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CTCCCAGAAGGAAGAGGGCAT	0.507000													12	80					0	0	0.000978	0	0
CMTM2	146225	broad.mit.edu	37	16	66613691	66613691	+	Missense_Mutation	SNP	G	G	A	rs9925443	byFrequency	TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:66613691G>A	ENST00000268595.2	+	1	332	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	CMTM2_ENST00000379486.2_Missense_Mutation_p.E61K	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	61					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		GCCCAAGCACGAAGTGGGCAC	0.557000													13	96					0	0	0.003163	0	0
DDX23	9416	broad.mit.edu	37	12	49237795	49237795	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:49237795C>A	ENST00000308025.3	-	3	327	c.248G>T	c.(247-249)cGg>cTg	p.R83L	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	83	Arg-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.R83L(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						ATTCCGATCCCGCTCCTTATC	0.488000													6	316					0.000157383	0.000225563	0.003080	1	0
BLK	640	broad.mit.edu	37	8	11420488	11420488	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:11420488G>A	ENST00000259089.4	+	12	1773	c.1180_splice	c.e12-1	p.G394_splice	BLK_ENST00000529894.1_Splice_Site_p.G323_splice	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	394	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TTTCCCACAGGGGCCAAGTTC	0.607000													8	76					0	0	0.006214	0	0
SNX9	51429	broad.mit.edu	37	6	158349733	158349733	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:158349733C>T	ENST00000392185.3	+	12	1458	c.1288_splice	c.e12+1	p.G429_splice		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	429	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GCTGCACGGGCCGTAAGTCCA	0.592000													3	7					0	0	0.004672	0	0
WDR72	256764	broad.mit.edu	37	15	53998215	53998215	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:53998215G>T	ENST00000396328.1	-	10	1250	c.1011C>A	c.(1009-1011)taC>taA	p.Y337*	WDR72_ENST00000559418.1_Nonsense_Mutation_p.Y347*|WDR72_ENST00000557913.1_Nonsense_Mutation_p.Y334*|WDR72_ENST00000360509.5_Nonsense_Mutation_p.Y337*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	337										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAAGTACCTTGTAAAAAGGCT	0.398000													4	18					0.000602214	0.000858184	0.000602	1	0
ANKRA2	57763	broad.mit.edu	37	5	72858543	72858543	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:72858543A>C	ENST00000296785.3	-	2	822	c.164T>G	c.(163-165)aTa>aGa	p.I55R		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	55						cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		GTTAGGCAATATGAATTTCAT	0.388000													15	133					0	0	0.008871	0	0
MICAL3	57553	broad.mit.edu	37	22	18347693	18347693	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr22:18347693G>A	ENST00000441493.2	-	19	2929	c.2577C>T	c.(2575-2577)gcC>gcT	p.A859A	MICAL3_ENST00000383094.3_Silent_p.A859A|MICAL3_ENST00000414725.2_Silent_p.A887A|MICAL3_ENST00000444520.1_Silent_p.A859A|MICAL3_ENST00000400561.2_Silent_p.A859A|MICAL3_ENST00000585038.1_Silent_p.A983A|MICAL3_ENST00000207726.7_Silent_p.A887A|MICAL3_ENST00000429452.1_Silent_p.A983A	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	859						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGCTGGCCACGGCGTTGGCCC	0.587000													15	121					0	0	0.007413	0	0
PPFIA2	8499	broad.mit.edu	37	12	82147926	82147926	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:82147926C>T	ENST00000550584.2	-	2	370	c.75G>A	c.(73-75)tcG>tcA	p.S25S	PPFIA2_ENST00000333447.7_Silent_p.S25S|PPFIA2_ENST00000549396.1_Silent_p.S25S|PPFIA2_ENST00000549325.1_Silent_p.S25S|PPFIA2_ENST00000552948.1_Silent_p.S25S|PPFIA2_ENST00000548586.1_Silent_p.S25S	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	284										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AGTCTGAGTCCGAGCCACTGC	0.498000													4	15					0	0	0.000248	0	0
WBSCR17	64409	broad.mit.edu	37	7	70881033	70881033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:70881033G>A	ENST00000333538.5	+	4	1382	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	250	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGCCCACGTGGAATTCACCGC	0.567000													8	43					0	0	0.003080	0	0
HRNR	388697	broad.mit.edu	37	1	152188335	152188335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:152188335C>T	ENST00000368801.2	-	3	5845	c.5770G>A	c.(5770-5772)Ggt>Agt	p.G1924S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1924					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGCTGACCATAGCTGGAA	0.582000													92	2444					0	0	0.002852	0	0
C19orf57	79173	broad.mit.edu	37	19	14000264	14000264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:14000264C>T	ENST00000454313.1	-	6	1463	c.1405G>A	c.(1405-1407)Gac>Aac	p.D469N	C19orf57_ENST00000586783.1_Missense_Mutation_p.D469N|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Missense_Mutation_p.D469N			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	469					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCCTCGAGGTCTCGTTCGAGG	0.602000													21	157					0	0	0.001523	0	0
NID1	4811	broad.mit.edu	37	1	236154241	236154241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:236154241G>A	ENST00000264187.6	-	14	2955	c.2873C>T	c.(2872-2874)cCc>cTc	p.P958L	NID1_ENST00000366595.3_Missense_Mutation_p.P825L	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	958					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCCCTCCAGGGGCAGGCGCTC	0.577000													10	86					0	0	0.006214	0	0
IQCF1	132141	broad.mit.edu	37	3	51937102	51937102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:51937102C>T	ENST00000310914.5	-	2	69	c.7G>A	c.(7-9)Gag>Aag	p.E3K		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	3										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCTGCTTCTCCTCCTGCAAT	0.527000													48	255					0	0	0.003610	0	0
ITFG1	81533	broad.mit.edu	37	16	47189662	47189662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:47189662C>T	ENST00000320640.6	-	18	2035	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_3'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	603						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CGGTGGGCTTCTTGTCGTTTT	0.333000													10	66					0	0	0.001368	0	0
MDN1	23195	broad.mit.edu	37	6	90402272	90402272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:90402272G>A	ENST00000369393.3	-	63	10592	c.10477C>T	c.(10477-10479)Ccc>Tcc	p.P3493S	MDN1_ENST00000428876.1_Missense_Mutation_p.P3493S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3493					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCCGAGTGGGACAGGCTTTC	0.577000													6	39					0	0	0.001168	0	0
SLC5A6	8884	broad.mit.edu	37	2	27428297	27428297	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:27428297T>C	ENST00000310574.3	-	7	1128	c.655A>G	c.(655-657)Att>Gtt	p.I219V	SLC5A6_ENST00000408041.1_Missense_Mutation_p.I219V	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	219					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	GACCCCACAATGATAACTGCC	0.592000													24	131					0	0	0.003954	0	0
ITGAL	3683	broad.mit.edu	37	16	30490500	30490500	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:30490500C>T	ENST00000356798.6	+	5	596	c.416C>T	c.(415-417)cCc>cTc	p.P139L	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000454514.2_Missense_Mutation_p.P139L|ITGAL_ENST00000358164.5_Intron|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	139					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CTGCAGGGTCCCATGCTGCAG	0.547000													11	78					0	0	0.002450	0	0
HYAL4	23553	broad.mit.edu	37	7	123517096	123517096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:123517096G>A	ENST00000223026.4	+	5	1971	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N	HYAL4_ENST00000476325.1_Missense_Mutation_p.D445N	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	445					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TGAAGGAGCTGATTGCAGAGA	0.453000													8	38					0	0	0.004482	0	0
TNN	63923	broad.mit.edu	37	1	175048471	175048471	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:175048471C>T	ENST00000239462.4	+	3	525	c.412C>T	c.(412-414)Cta>Tta	p.L138L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	138					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCTCCCAGATCTAAGCCGCCA	0.622000													4	25					0	0	0.001168	0	0
CACNA1H	8912	broad.mit.edu	37	16	1260873	1260873	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:1260873C>T	ENST00000348261.5	+	21	4373	c.4125C>T	c.(4123-4125)tcC>tcT	p.S1375S	CACNA1H_ENST00000358590.4_Silent_p.S1375S|CACNA1H_ENST00000565831.1_Silent_p.S1375S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1375					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGCTGGTGTCCCTGGTGGACA	0.682000													19	153					0	0	0.006122	0	0
DHRS2	10202	broad.mit.edu	37	14	24108421	24108421	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr14:24108421G>A	ENST00000250383.6	+	3	650	c.174G>A	c.(172-174)cgG>cgA	p.R58R	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Silent_p.R58R	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	36				L -> V (in Ref. 6; AA sequence).	C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GTCTGGCCCGGGACGGGGCCC	0.642000													36	175					0	0	0.004878	0	0
DHX40	79665	broad.mit.edu	37	17	57648001	57648001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:57648001C>T	ENST00000451169.2	+	3	465	c.106C>T	c.(106-108)Cgt>Tgt	p.R36C	DHX40_ENST00000425628.3_Intron|DHX40_ENST00000251241.4_Missense_Mutation_p.R135C			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	135							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATACCAAGTTCGTTTTGATGA	0.428000													5	54					0	0	0.000602	0	0
CALCA	796	broad.mit.edu	37	11	14992730	14992730	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:14992730G>A	ENST00000361010.3	-	2	83	c.9C>T	c.(7-9)ttC>ttT	p.F3F	CALCA_ENST00000486207.1_Silent_p.F3F|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000359642.3_Silent_p.F3F|CALCA_ENST00000331587.4_Silent_p.F3F|CALCA_ENST00000396372.2_Silent_p.F3F	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	3					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	AGAACTTTTGGAAGCCCATGA	0.542000													8	68					0	0	0.006214	0	0
RAD54L2	23132	broad.mit.edu	37	3	51694052	51694052	+	Silent	SNP	C	C	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:51694052C>A	ENST00000409535.1	+	21	3452	c.3327C>A	c.(3325-3327)atC>atA	p.I1109I	RAD54L2_ENST00000296477.3_Silent_p.I803I	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1109						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GGACGTACATCCGTACCAGTG	0.512000													4	23					1.23904e-05	1.7826e-05	0.000602	1	0
WNT3A	89780	broad.mit.edu	37	1	228238562	228238562	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:228238562G>A	ENST00000284523.1	+	3	597	c.519G>A	c.(517-519)cgG>cgA	p.R173R	WNT3A_ENST00000366753.2_Silent_p.R173R	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	173					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CCGACGCCCGGGAGAACCGGC	0.662000													5	48					0	0	0.001168	0	0
PRKAA2	5563	broad.mit.edu	37	1	57173220	57173220	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:57173220C>T	ENST00000371244.4	+	9	1559	c.1493C>T	c.(1492-1494)cCa>cTa	p.P498L		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	498					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TTACACAGACCAAGATCAAGT	0.473000													7	68					0	0	0.001984	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541630	96541630	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:96541630A>G	ENST00000371321.3	+	5	777	c.695A>G	c.(694-696)aAa>aGa	p.K232R	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	232					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ACCCATAACAAATTACTTAAA	0.299000													3	10					0	0	0.000248	0	0
HPSE	10855	broad.mit.edu	37	4	84232034	84232034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:84232034C>T	ENST00000405413.2	-	6	819	c.683G>A	c.(682-684)aGt>aAt	p.S228N	HPSE_ENST00000311412.5_Missense_Mutation_p.S228N|HPSE_ENST00000513463.1_Missense_Mutation_p.S170N|HPSE_ENST00000512196.1_Missense_Mutation_p.S228N	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	228					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	CTTAAGGAAACTGTTAGGTTC	0.308000													6	46					0	0	0.001168	0	0
ZEB1	6935	broad.mit.edu	37	10	31799699	31799699	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:31799699G>C	ENST00000446923.2	+	5	923	c.532G>C	c.(532-534)Gaa>Caa	p.E178Q	ZEB1_ENST00000361642.5_Missense_Mutation_p.E195Q|ZEB1_ENST00000320985.10_Missense_Mutation_p.E194Q|ZEB1_ENST00000542815.3_Missense_Mutation_p.E127Q|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.E174Q	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	194					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATATCGTCATGAAAAGAATGA	0.383000													4	14					0	0	0.001168	0	0
PHKA2	5256	broad.mit.edu	37	X	18924613	18924613	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:18924613C>T	ENST00000379942.4	-	25	3471	c.2806_splice	c.e25+1	p.G936_splice		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	936					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGCATCTCACCTGAGCAGTTC	0.627000													15	95					0	0	0.004007	0	0
RRP8	23378	broad.mit.edu	37	11	6623248	6623248	+	Missense_Mutation	SNP	C	C	A	rs140361064		TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:6623248C>A	ENST00000254605.6	-	2	414	c.297G>T	c.(295-297)caG>caT	p.Q99H	RRP8_ENST00000534343.1_Intron	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	99					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						AAGGTGGGCCCTGTTTTTGAC	0.463000													12	92					6.40141e-05	9.19208e-05	0.000978	1	0
IQCA1	79781	broad.mit.edu	37	2	237374155	237374155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:237374155C>T	ENST00000409907.3	-	6	1193	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K	IQCA1_ENST00000431676.2_Missense_Mutation_p.E307K|IQCA1_ENST00000309507.5_Missense_Mutation_p.E303K			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	307							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CACCTGCATTCGATGAACCAA	0.428000													5	16					0	0	0.001984	0	0
LPCAT1	79888	broad.mit.edu	37	5	1474743	1474743	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:1474743C>T	ENST00000283415.3	-	10	1089	c.957G>A	c.(955-957)gcG>gcA	p.A319A		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	319					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GCTGTCCTTCCGCCAGGGCCA	0.617000													6	35					0	0	0.001984	0	0
SLC43A2	124935	broad.mit.edu	37	17	1494708	1494708	+	Silent	SNP	G	G	A	rs12936338		TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:1494708G>A	ENST00000571650.1	-	8	1092	c.786C>T	c.(784-786)ttC>ttT	p.F262F	SLC43A2_ENST00000574274.1_5'UTR|SLC43A2_ENST00000301335.4_Silent_p.F262F|SLC43A2_ENST00000412517.3_Silent_p.F125F|SLC43A2_ENST00000382147.4_Silent_p.F262F			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	262					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		CCTGCTTGTAGAACTGCTTCC	0.647000													17	97					0	0	0.001523	0	0
DYSF	8291	broad.mit.edu	37	2	71740985	71740985	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:71740985G>A	ENST00000258104.3	+	6	874	c.597G>A	c.(595-597)ggG>ggA	p.G199G	DYSF_ENST00000409651.1_Silent_p.G231G|DYSF_ENST00000413539.2_Silent_p.G230G|DYSF_ENST00000409762.1_Silent_p.G230G|DYSF_ENST00000429174.2_Silent_p.G199G|DYSF_ENST00000409744.1_Silent_p.G200G|DYSF_ENST00000410020.3_Silent_p.G231G|DYSF_ENST00000409582.3_Silent_p.G230G|DYSF_ENST00000410041.1_Silent_p.G231G|DYSF_ENST00000409366.1_Silent_p.G200G|DYSF_ENST00000394120.2_Silent_p.G200G	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	199						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACTACCCCGGGATCAAAAGAA	0.587000													4	49					0	0	0.000602	0	0
TENM4	26011	broad.mit.edu	37	11	78369243	78369243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:78369243C>T	ENST00000278550.7	-	34	8632	c.8170G>A	c.(8170-8172)Gag>Aag	p.E2724K		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGCTGCTTCTCCCCCTCTGTC	0.657000													16	105					0	0	0.004990	0	0
USP39	10713	broad.mit.edu	37	2	85866352	85866352	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:85866352C>T	ENST00000323701.6	+	9	1132	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	USP39_ENST00000409470.1_Silent_p.L374L|USP39_ENST00000409766.3_Silent_p.L374L|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409025.1_Silent_p.L374L|USP39_ENST00000450066.2_Silent_p.L271L	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	374					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGCAGTTGCTCCATAATGACG	0.478000													5	31					0	0	0.001168	0	0
GAK	2580	broad.mit.edu	37	4	860181	860181	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:860181G>T	ENST00000314167.4	-	22	3124	c.3014C>A	c.(3013-3015)cCa>cAa	p.P1005Q	GAK_ENST00000511163.1_Missense_Mutation_p.P926Q|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1005					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCTGCAGGATGGGGGCGGAGC	0.632000													10	103					1.08611e-07	1.57465e-07	0.000978	1	0
COL4A6	1288	broad.mit.edu	37	X	107554042	107554042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:107554042C>T	ENST00000334504.7	-	3	313	c.80G>A	c.(79-81)gGa>gAa	p.G27E	COL4A6_ENST00000461897.1_5'UTR|COL4A6_ENST00000394872.2_Missense_Mutation_p.G27E|COL4A6_ENST00000545689.1_Missense_Mutation_p.G27E|COL4A6_ENST00000372216.4_Missense_Mutation_p.G28E|COL4A6_ENST00000538570.1_Missense_Mutation_p.G27E	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	28	7S domain.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACATGGCTTTCCATAAGACTT	0.413000									Alport syndrome with Diffuse Leiomyomatosis				6	57					0	0	0.003080	0	0
YIPF3	25844	broad.mit.edu	37	6	43483726	43483726	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:43483726G>T	ENST00000372422.2	-	2	371	c.189C>A	c.(187-189)gaC>gaA	p.D63E	YIPF3_ENST00000506469.1_Missense_Mutation_p.D69E	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	63					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CTGCATCAGCGTCTACTTCTT	0.562000													14	114					3.35478e-16	4.89211e-16	0.003163	1	0
ZNF320	162967	broad.mit.edu	37	19	53384496	53384496	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:53384496G>A	ENST00000595635.1	-	8	1384	c.883C>T	c.(883-885)Cat>Tat	p.H295Y	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.H295Y	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCTGCAGTATGAACTGCCTTA	0.428000													4	38					0	0	0.000602	0	0
KANK4	163782	broad.mit.edu	37	1	62739414	62739414	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:62739414G>A	ENST00000371153.4	-	3	1740	c.1362C>T	c.(1360-1362)ctC>ctT	p.L454L	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	454										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						GCCCCCATAGGAGGCCATTCT	0.567000													34	190					0	0	0.003271	0	0
CYP4F22	126410	broad.mit.edu	37	19	15640642	15640642	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:15640642C>T	ENST00000269703.2	+	4	544	c.345C>T	c.(343-345)atC>atT	p.I115I	CYP4F22_ENST00000601005.2_Silent_p.I115I	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	115						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CTGATTACATCAAACCCCTTT	0.522000													12	112					0	0	0.001855	0	0
PCYOX1	51449	broad.mit.edu	37	2	70503997	70503997	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:70503997C>T	ENST00000433351.2	+	6	1019	c.991C>T	c.(991-993)Cct>Tct	p.P331S	PCYOX1_ENST00000505044.2_Missense_Mutation_p.P254S|PCYOX1_ENST00000545138.1_Missense_Mutation_p.P253S|PCYOX1_ENST00000264441.5_Intron	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	331					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CAACTTTGATCCTCCAATTGA	0.368000													4	38					0	0	0.000602	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283949	151283949	+	RNA	SNP	C	C	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:151283949C>A	ENST00000509345.2	-	0	387																											AGGCCCAGGGCCTCTTCTTGG	0.632000													9	62					0.000274275	0.000391598	0.004482	1	0
TDRD5	163589	broad.mit.edu	37	1	179609005	179609005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:179609005C>T	ENST00000444136.1	+	10	1802	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	TDRD5_ENST00000367614.1_Nonsense_Mutation_p.R518*|TDRD5_ENST00000294848.8_Nonsense_Mutation_p.R518*	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	518					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						GGTTTCTGATCGATATGTCAT	0.383000													10	83					0	0	0.000978	0	0
PNLIP	5406	broad.mit.edu	37	10	118315528	118315528	+	Silent	SNP	G	G	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:118315528G>C	ENST00000369221.2	+	9	856	c.828G>C	c.(826-828)gcG>gcC	p.A276A		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	276					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	GAGACTTTGCGGCCTGTAATC	0.403000													4	52					0	0	0.000248	0	0
MYO19	80179	broad.mit.edu	37	17	34856791	34856791	+	Silent	SNP	A	A	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:34856791A>C	ENST00000431794.3	-	23	2778	c.2256T>G	c.(2254-2256)ctT>ctG	p.L752L	MYO19_ENST00000268852.9_Silent_p.L552L	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	752						mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CACATTCCAGAAGCTCCAGCT	0.657000													5	30					0	0	0.001168	0	0
RBP3	5949	broad.mit.edu	37	10	48388910	48388910	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:48388910G>A	ENST00000224600.4	-	1	2081	c.1968C>T	c.(1966-1968)gtC>gtT	p.V656V		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	656	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCTGCCCCACGACCTCTGGCC	0.662000													4	27					0	0	0.000248	0	0
MAOB	4129	broad.mit.edu	37	X	43656393	43656393	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:43656393G>A	ENST00000378069.4	-	6	744	c.597C>T	c.(595-597)atC>atT	p.I199I	MAOB_ENST00000538942.1_Silent_p.I183I|MAOB_ENST00000536181.1_Silent_p.I183I	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	199					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TTGTTGTCGAGATGATTCTTG	0.463000													4	20					0	0	0.000248	0	0
FGFR1OP	11116	broad.mit.edu	37	6	167438348	167438348	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:167438348C>T	ENST00000366847.3	+	9	1116	c.885C>T	c.(883-885)tcC>tcT	p.S295S	FGFR1OP_ENST00000349556.4_Silent_p.S275S	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	295					G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		GACTCAGCTCCCTGGCGGGAG	0.463000			T	FGFR1	"""MPD, NHL"""								8	67					0	0	0.004482	0	0
LPCAT1	79888	broad.mit.edu	37	5	1474742	1474742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:1474742C>T	ENST00000283415.3	-	10	1090	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	320					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		AGCTGTCCTTCCGCCAGGGCC	0.617000													6	35					0	0	0.001168	0	0
SPRR1A	6698	broad.mit.edu	37	1	152957746	152957746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:152957746C>T	ENST00000307122.2	+	2	104	c.40C>T	c.(40-42)Cct>Tct	p.P14S	SPRR1A_ENST00000368762.1_Missense_Mutation_p.P14S	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	P35321	SPR1A_HUMAN	small proline-rich protein 1A	14	2 X 12 AA approximate repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCCCACCCCCTCAGCCTCA	0.517000													15	69					0	0	0.004007	0	0
USH1C	10083	broad.mit.edu	37	11	17542474	17542474	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:17542474G>A	ENST00000005226.7	-	14	1152	c.1153C>T	c.(1153-1155)Ctc>Ttc	p.L385F	USH1C_ENST00000318024.4_Missense_Mutation_p.L385F|USH1C_ENST00000527020.1_Missense_Mutation_p.L366F|USH1C_ENST00000527720.1_Missense_Mutation_p.L354F	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	385					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TTAGGCAAGAGTAGCTGTTCC	0.488000													64	457					0	0	0.003610	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004256	102004256	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:102004256C>T	ENST00000372735.1	+	4	918	c.333C>T	c.(331-333)ttC>ttT	p.F111F	BHLHB9_ENST00000447531.1_Silent_p.F111F|BHLHB9_ENST00000457056.1_Silent_p.F111F|BHLHB9_ENST00000448867.1_Silent_p.F111F|BHLHB9_ENST00000361229.4_Silent_p.F111F			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	111						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATGCCTGGTTCTGGGCTGGGG	0.493000													18	85					0	0	0.006122	0	0
CHST11	50515	broad.mit.edu	37	12	105151222	105151222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:105151222G>A	ENST00000303694.5	+	3	1139	c.700G>A	c.(700-702)Gat>Aat	p.D234N	CHST11_ENST00000549260.1_Missense_Mutation_p.D229N	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	234					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CAAAGGGGACGATGTCAAATT	0.562000													4	63					0	0	0.000602	0	0
HIF3A	64344	broad.mit.edu	37	19	46832553	46832553	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:46832553G>A	ENST00000339613.2	+	12	1617	c.1362G>A	c.(1360-1362)agG>agA	p.R454R	HIF3A_ENST00000300862.3_Silent_p.R508R|HIF3A_ENST00000420102.2_Silent_p.R459R|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000600383.1_Silent_p.R441R|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Silent_p.R441R|HIF3A_ENST00000377670.4_Silent_p.R510R			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	510	NTAD.|ODD.				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)		AGCTACCCAGGGCCTACCACA	0.652000													16	105					0	0	0.004007	0	0
LAMA3	3909	broad.mit.edu	37	18	21343417	21343417	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr18:21343417T>C	ENST00000313654.9	+	8	1353	c.1112T>C	c.(1111-1113)gTt>gCt	p.V371A	LAMA3_ENST00000399516.3_Missense_Mutation_p.V371A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	371	Domain V.|Laminin EGF-like 2.				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)	GATCCAGATGTTGAGCGGCAG	0.443000													8	91					0	0	0.003080	0	0
AMPD1	270	broad.mit.edu	37	1	115218564	115218564	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:115218564G>A	ENST00000369538.3	-	10	1583	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	AMPD1_ENST00000520113.2_Silent_p.F516F|AMPD1_ENST00000353928.6_Silent_p.F483F	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	483					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	ACACTGGCATGAAAATATTCT	0.443000													42	101					0	0	0.006999	0	0
PIM1	5292	broad.mit.edu	37	6	37138792	37138792	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:37138792C>T	ENST00000373509.5	+	3	598	c.225C>T	c.(223-225)tcC>tcT	p.S75S		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	166					cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	ACCGGATTTCCGACTGGGGAG	0.701000			T	BCL6	NHL								24	141					0	0	0.004656	0	0
VAV2	7410	broad.mit.edu	37	9	136645046	136645046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr9:136645046C>T	ENST00000371851.1	-	19	2051	c.1726G>A	c.(1726-1728)Gga>Aga	p.G576R	VAV2_ENST00000406606.3_Missense_Mutation_p.G576R|VAV2_ENST00000371850.3_Missense_Mutation_p.G586R			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	586					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCACCTGGTCCCGCTCCGGAG	0.622000													12	53					0	0	0.002450	0	0
FAM92A1P2	403315	broad.mit.edu	37	4	183960159	183960159	+	RNA	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:183960159C>T	ENST00000502308.1	+	0	1342					NR_003612.1																						GTCACCTCACCAGAGATCATG	0.393000													4	45					0	0	0.001168	0	0
KCNS3	3790	broad.mit.edu	37	2	18112296	18112296	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:18112296C>T	ENST00000403915.1	+	3	472	c.21C>T	c.(19-21)ttC>ttT	p.F7F	KCNS3_ENST00000304101.4_Silent_p.F7F|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	7					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	p.F7F(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTGAGTTTTTCCATCGCCCTG	0.527000													7	31					0	0	0.001984	0	0
MYBPC2	4606	broad.mit.edu	37	19	50944201	50944201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:50944201G>A	ENST00000357701.5	+	8	688	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	213					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CATCCCCCCGGAGATTTGGGA	0.577000													14	32					0	0	0.002450	0	0
ENTHD1	150350	broad.mit.edu	37	22	40231964	40231964	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr22:40231964C>T	ENST00000325157.6	-	4	843		c.e4-1			NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1											breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CACACATTTCCTGTCAACAAT	0.348000													4	43					0	0	0.000248	0	0
MYO9B	4650	broad.mit.edu	37	19	17283623	17283623	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:17283623G>A	ENST00000595618.1	+	13	2143	c.1991G>A	c.(1990-1992)cGg>cAg	p.R664Q	MYO9B_ENST00000397274.2_Missense_Mutation_p.R664Q|MYO9B_ENST00000594824.1_Missense_Mutation_p.R664Q	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	664	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCCCTGCTGCGGGGCAGTGAC	0.657000													20	123					0	0	0.001523	0	0
DUOX2	50506	broad.mit.edu	37	15	45387730	45387730	+	Silent	SNP	A	A	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:45387730A>G	ENST00000389039.6	-	31	4529	c.4144T>C	c.(4144-4146)Ttg>Ctg	p.L1382L	DUOX2_ENST00000603300.1_Silent_p.L1382L			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1382					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCTCCCACCAACACTGACACC	0.547000													14	82					0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9087174	9087174	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:9087174C>T	ENST00000397910.4	-	1	4844	c.4641G>A	c.(4639-4641)gtG>gtA	p.V1547V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1547	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						AGTGTTCAATCACACTGGTCC	0.488000													8	78					0	0	0.004482	0	0
BOC	91653	broad.mit.edu	37	3	112969407	112969407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:112969407G>A	ENST00000495514.1	+	4	807	c.103G>A	c.(103-105)Gtc>Atc	p.V35I	BOC_ENST00000355385.3_Missense_Mutation_p.V35I|BOC_ENST00000273395.4_Missense_Mutation_p.V35I|BOC_ENST00000484034.1_Missense_Mutation_p.V35I|BOC_ENST00000485230.1_Missense_Mutation_p.V35I			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	35					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TCCAGACGAGGTCCCTCAGGT	0.552000													5	83					0	0	0.000602	0	0
UBA7	7318	broad.mit.edu	37	3	49848190	49848190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:49848190G>A	ENST00000333486.3	-	11	1464	c.1306C>T	c.(1306-1308)Ctc>Ttc	p.L436F		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	436	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTCACCAGGAGGTAGTGCTGG	0.612000													10	134					0	0	0.008291	0	0
PADI4	23569	broad.mit.edu	37	1	17657608	17657608	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:17657608G>A	ENST00000375448.4	+	2	263	c.237G>A	c.(235-237)acG>acA	p.T79T	AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000375453.1_Silent_p.T79T	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	79			T -> M (in dbSNP:rs35809521).		chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TGACCCTGACGATGAAAGTGG	0.602000													4	43					0	0	0.000248	0	0
TDRD5	163589	broad.mit.edu	37	1	179603594	179603594	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:179603594C>T	ENST00000444136.1	+	8	1379	c.1129C>T	c.(1129-1131)Cag>Tag	p.Q377*	TDRD5_ENST00000367614.1_Nonsense_Mutation_p.Q377*|TDRD5_ENST00000294848.8_Nonsense_Mutation_p.Q377*	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	377	Lotus/OST-HTH 3.				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						GTGTTTAGTTCAGTCAGATAA	0.383000													7	48					0	0	0.001984	0	0
NEURL3	93082	broad.mit.edu	37	2	97166202	97166202	+	RNA	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:97166202C>T	ENST00000310865.3	-	0	725									neuralized E3 ubiquitin protein ligase 3																		CTTAGTGGTCCCATACACGTC	0.706000													4	20					0	0	0.000248	0	0
LINC00174	285908	broad.mit.edu	37	7	65842497	65842497	+	RNA	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:65842497G>A	ENST00000421767.1	-	0	3235					NR_026873.1																						CGGCCCCCATGGGCCACTGTG	0.647000													6	20					0	0	0.001168	0	0
DPH2	1802	broad.mit.edu	37	1	44437691	44437691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:44437691C>T	ENST00000255108.3	+	4	1289	c.1117C>T	c.(1117-1119)Cca>Tca	p.P373S	DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Missense_Mutation_p.P238S	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	373					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCCTGCCTGGCCACCTCCAGG	0.597000													23	74					0	0	0.002780	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959992	45959992	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr21:45959992G>A	ENST00000400375.1	-	1	86	c.42C>T	c.(40-42)tcC>tcT	p.S14S	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	14						keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCCAGGAGTCGGAGCAAGCGC	0.682000													24	113					0	0	0.005443	0	0
TTBK2	146057	broad.mit.edu	37	15	43044548	43044548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:43044548C>T	ENST00000267890.6	-	14	3004	c.2896G>A	c.(2896-2898)Gaa>Aaa	p.E966K		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	966					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGGAGCTTTTCTTTTGCAGAA	0.443000													10	63					0	0	0.008291	0	0
FAM19A1	407738	broad.mit.edu	37	3	68055810	68055810	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:68055810G>A	ENST00000478136.1	+	2	531	c.41G>A	c.(40-42)tGg>tAg	p.W14*	FAM19A1_ENST00000496687.1_Nonsense_Mutation_p.W14*	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	14						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		CTGTATTTGTGGATAAGTGCT	0.522000													17	150					0	0	0.006122	0	0
B3GAT3	26229	broad.mit.edu	37	11	62384617	62384617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:62384617G>A	ENST00000531383.1	-	3	666	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	B3GAT3_ENST00000534026.1_Missense_Mutation_p.H154Y|B3GAT3_ENST00000265471.5_Missense_Mutation_p.H154Y			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	154					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CCACGGGGATGAACCCAGCCA	0.687000													9	60					0	0	0.008291	0	0
CBLB	868	broad.mit.edu	37	3	105412372	105412372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:105412372G>A	ENST00000264122.4	-	13	2341	c.2020C>T	c.(2020-2022)Cct>Tct	p.P674S	CBLB_ENST00000405772.1_Missense_Mutation_p.P674S|CBLB_ENST00000403724.1_Missense_Mutation_p.P674S|CBLB_ENST00000394027.3_Missense_Mutation_p.P696S	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	674	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ACTGGAGGAGGAGGAGAAAGC	0.408000			Mis S		AML								3	16					0	0	0.000602	0	0
GGCX	2677	broad.mit.edu	37	2	85778939	85778939	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:85778939G>A	ENST00000233838.3	-	11	1685	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	GGCX_ENST00000430215.3_Silent_p.F478F	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	535					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	CCATACCAGGGAAATCTGCAA	0.512000											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	123					0	0	0.006122	0	0
PDE8B	8622	broad.mit.edu	37	5	76627230	76627230	+	Silent	SNP	G	G	A	rs150153853		TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:76627230G>A	ENST00000264917.5	+	5	699	c.654G>A	c.(652-654)tcG>tcA	p.S218S	PDE8B_ENST00000346042.3_Silent_p.S218S|PDE8B_ENST00000340978.3_Silent_p.S218S|PDE8B_ENST00000342343.4_Silent_p.S198S|PDE8B_ENST00000333194.4_Silent_p.S218S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	218					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GCTGCAGATCGGATGACCATG	0.498000													24	116					0	0	0.007291	0	0
CFB	629	broad.mit.edu	37	6	31918995	31918995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:31918995G>A	ENST00000456570.1	+	27	3491	c.3436G>A	c.(3436-3438)Gag>Aag	p.E1146K	CFB_ENST00000477310.1_Missense_Mutation_p.E995K|CFB_ENST00000425368.2_Missense_Mutation_p.E644K|CFB_ENST00000556679.1_Missense_Mutation_p.E1146K			P00751	CFAB_HUMAN	complement factor B	644					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GACTCGGAAGGAGGTCTACAT	0.498000													34	338					0	0	0.003271	0	0
AATF	26574	broad.mit.edu	37	17	35346600	35346600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:35346600G>A	ENST00000225402.5	+	7	1455	c.1204G>A	c.(1204-1206)Gac>Aac	p.D402N		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	402	RB1 and SP1 binding.			D -> C (in Ref. 2; AAD52016).	anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TATTCTGATGGACAAAGAGAG	0.473000													23	126					0	0	0.003954	0	0
CSMD2	114784	broad.mit.edu	37	1	34034989	34034989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:34034989C>T	ENST00000373381.4	-	52	8292	c.8116G>A	c.(8116-8118)Gaa>Aaa	p.E2706K		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2708	Sushi 17.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGCGGACTTCAGAGCCACTC	0.527000													5	49					0	0	0.000602	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38643563	38643563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:38643563G>A	ENST00000222345.6	+	13	4126	c.3617G>A	c.(3616-3618)gGc>gAc	p.G1206D		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1206					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCTCTTCCGGCGGCCTGACC	0.667000													12	89					0	0	0.001368	0	0
OR52B6	340980	broad.mit.edu	37	11	5602787	5602787	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:5602787C>T	ENST00000345043.2	+	1	681	c.681C>T	c.(679-681)ggC>ggT	p.G227G	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCCACAGGCCTAGACATCA	0.507000													35	203					0	0	0.003755	0	0
RGS12	6002	broad.mit.edu	37	4	3417784	3417784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:3417784C>T	ENST00000336727.3	+	7	3267	c.2363C>T	c.(2362-2364)gCc>gTc	p.A788V	RGS12_ENST00000382788.3_Missense_Mutation_p.A788V|RGS12_ENST00000344733.5_Missense_Mutation_p.A788V|RGS12_ENST00000338806.4_Missense_Mutation_p.A140V|RGS12_ENST00000306648.7_Missense_Mutation_p.A186V|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000538395.1_Missense_Mutation_p.A130V	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	788	RGS.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GACAGCCAGGCCCAGCTAGCA	0.597000													7	56					0	0	0.001984	0	0
COX5B	1329	broad.mit.edu	37	2	98264521	98264521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:98264521C>T	ENST00000258424.2	+	4	387	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	114					respiratory electron transport chain|respiratory gaseous exchange	mitochondrial inner membrane	cytochrome-c oxidase activity|metal ion binding			endometrium(1)|lung(1)|urinary_tract(1)	3						CCAGCGATGCCCCCGCTGTGG	0.512000													9	47					0	0	0.004482	0	0
KLC1	3831	broad.mit.edu	37	14	104123955	104123955	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr14:104123955C>T	ENST00000389744.4	+	3	603	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	KLC1_ENST00000557450.1_Missense_Mutation_p.R112C|KLC1_ENST00000348520.6_Missense_Mutation_p.R112C|KLC1_ENST00000553286.1_Missense_Mutation_p.R112C|KLC1_ENST00000452929.2_Missense_Mutation_p.R112C|KLC1_ENST00000347839.6_Missense_Mutation_p.R112C|KLC1_ENST00000445352.4_Missense_Mutation_p.R112C|KLC1_ENST00000380038.3_Missense_Mutation_p.R112C|KLC1_ENST00000334553.6_Missense_Mutation_p.R112C|KLC1_ENST00000555836.1_Missense_Mutation_p.R112C|KLC1_ENST00000554280.1_Missense_Mutation_p.R112C|KLC1_ENST00000557575.1_Missense_Mutation_p.R112C|KLC1_ENST00000246489.7_Missense_Mutation_p.R112C|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.R284C			Q07866	KLC1_HUMAN	kinesin light chain 1	112					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GCAGGTTCGTCGTCTGTGCCA	0.532000													8	75					0	0	0.004482	0	0
LILRB1	10859	broad.mit.edu	37	19	55148324	55148324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:55148324C>T	ENST00000396331.1	+	16	2305	c.1948C>T	c.(1948-1950)Cac>Tac	p.H650Y	LILRB1_ENST00000396332.4_Missense_Mutation_p.H651Y|LILRB1_ENST00000434867.2_Missense_Mutation_p.H650Y|LILRB1_ENST00000396317.1_Missense_Mutation_p.H634Y|LILRB1_ENST00000427581.2_Missense_Mutation_p.H701Y|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.H650Y|LILRB1_ENST00000324602.7_Missense_Mutation_p.H652Y|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396327.3_Missense_Mutation_p.H651Y|LILRB1_ENST00000396315.1_Missense_Mutation_p.H652Y|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000418536.2_Missense_Mutation_p.H634Y	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	650					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)		TCTGGCCATCCACTAGCCCAG	0.647000										HNSCC(37;0.09)			9	46					0	0	0.000978	0	0
PGS1	9489	broad.mit.edu	37	17	76396765	76396765	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:76396765C>T	ENST00000262764.6	+	6	735	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L	PGS1_ENST00000329897.7_Silent_p.L102L|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	237	PLD phosphodiesterase 1.				phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TAGTGCAAACCTGAGTGACTC	0.602000													22	167					0	0	0.002299	0	0
ECE1	1889	broad.mit.edu	37	1	21605716	21605716	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:21605716C>A	ENST00000415912.2	-	3	325	c.200G>T	c.(199-201)tGc>tTc	p.C67F	ECE1_ENST00000374893.6_Missense_Mutation_p.C83F|ECE1_ENST00000436918.2_Missense_Mutation_p.C83F|ECE1_ENST00000357071.4_Missense_Mutation_p.C71F|ECE1_ENST00000264205.6_Missense_Mutation_p.C80F	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	83					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TGCTGCCAAGCAGGCCACCAG	0.652000													13	94					9.31168e-06	1.34224e-05	0.001855	1	0
HCRTR1	3061	broad.mit.edu	37	1	32084967	32084967	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:32084967C>T	ENST00000403528.2	+	3	559	c.174C>T	c.(172-174)gtC>gtT	p.V58V	HCRTR1_ENST00000373706.5_Silent_p.V58V|HCRTR1_ENST00000373705.1_Silent_p.V58V|HCRTR1_ENST00000468521.1_3'UTR	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	58					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CTGTGTTCGTCGTGGCCCTGG	0.587000													14	138					0	0	0.001855	0	0
CDH18	1016	broad.mit.edu	37	5	19747249	19747249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:19747249C>T	ENST00000507958.1	-	6	1315	c.325G>A	c.(325-327)Gat>Aat	p.D109N	CDH18_ENST00000274170.4_Missense_Mutation_p.D109N|CDH18_ENST00000506372.1_Missense_Mutation_p.D109N|CDH18_ENST00000511273.1_Missense_Mutation_p.D109N|CDH18_ENST00000382275.1_Missense_Mutation_p.D109N|CDH18_ENST00000502796.1_Missense_Mutation_p.D109N			Q13634	CAD18_HUMAN	cadherin 18, type 2	109	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GAGTGGATATCACCCGTGGTA	0.448000													12	81					0	0	0.001368	0	0
DRD5	1816	broad.mit.edu	37	4	9784016	9784016	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:9784016C>T	ENST00000304374.2	+	1	759	c.363C>T	c.(361-363)atC>atT	p.I121I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	121					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CCTTCGACATCATGTGCTCCA	0.617000													8	65					0	0	0.003080	0	0
CACNA1G	8913	broad.mit.edu	37	17	48695472	48695472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:48695472C>T	ENST00000352832.5	+	29	5560	c.5188C>T	c.(5188-5190)Ctc>Ttc	p.L1730F	CACNA1G_ENST00000507510.2_Missense_Mutation_p.L1764F|CACNA1G_ENST00000354983.4_Missense_Mutation_p.L1730F|CACNA1G_ENST00000507896.1_Missense_Mutation_p.L1753F|CACNA1G_ENST00000442258.2_Missense_Mutation_p.L1723F|CACNA1G_ENST00000514717.1_Missense_Mutation_p.L1707F|CACNA1G_ENST00000358244.5_Missense_Mutation_p.L1730F|CACNA1G_ENST00000510115.1_Missense_Mutation_p.L1730F|CACNA1G_ENST00000514181.1_Missense_Mutation_p.L1739F|CACNA1G_ENST00000507336.1_Missense_Mutation_p.L1753F|CACNA1G_ENST00000507609.1_Missense_Mutation_p.L1757F|CACNA1G_ENST00000503485.1_Missense_Mutation_p.L1730F|CACNA1G_ENST00000505165.1_Missense_Mutation_p.L1764F|CACNA1G_ENST00000515765.1_Missense_Mutation_p.L1753F|CACNA1G_ENST00000512389.1_Missense_Mutation_p.L1753F|CACNA1G_ENST00000515411.1_Missense_Mutation_p.L1746F|CACNA1G_ENST00000510366.1_Missense_Mutation_p.L1712F|CACNA1G_ENST00000515165.1_Missense_Mutation_p.L1764F|CACNA1G_ENST00000359106.5_Missense_Mutation_p.L1764F|CACNA1G_ENST00000429973.2_Missense_Mutation_p.L1746F|CACNA1G_ENST00000514079.1_Missense_Mutation_p.L1771F|CACNA1G_ENST00000502264.1_Missense_Mutation_p.L1741F|CACNA1G_ENST00000513964.1_Missense_Mutation_p.L1719F|CACNA1G_ENST00000360761.4_Missense_Mutation_p.L1741F|CACNA1G_ENST00000513689.2_Missense_Mutation_p.L1719F	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	1764					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)	GGGCGTGGAGCTCTTTGGAGA	0.562000													6	70					0	0	0.003080	0	0
ZNF174	7727	broad.mit.edu	37	16	3454462	3454462	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:3454462G>T	ENST00000268655.4	+	2	1024	c.439G>T	c.(439-441)Gag>Tag	p.E147*	ZNF174_ENST00000344823.5_Nonsense_Mutation_p.E147*|ZNF174_ENST00000575752.1_Nonsense_Mutation_p.E147*|ZNF174_ENST00000571936.1_Nonsense_Mutation_p.E147*|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000572544.1_Nonsense_Mutation_p.E147*	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	147					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GGTGCTCTTGGAGAAAACTGG	0.522000													22	248					2.50493e-22	3.65993e-22	0.004656	1	0
NLRP7	199713	broad.mit.edu	37	19	55451638	55451638	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:55451638C>T	ENST00000446217.1	-	6	1035	c.633G>A	c.(631-633)ggG>ggA	p.G211G	NLRP7_ENST00000448121.2_Silent_p.G183G|NLRP7_ENST00000340844.2_Silent_p.G183G|NLRP7_ENST00000328092.5_Silent_p.G183G|NLRP7_ENST00000592784.1_Silent_p.G183G|NLRP7_ENST00000590030.1_Silent_p.G183G|NLRP7_ENST00000588756.1_Silent_p.G183G			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	183	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)		GCGTGGTTTTCCCCACGCCTG	0.562000													20	143					0	0	0.007413	0	0
CAST	831	broad.mit.edu	37	5	96065389	96065389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:96065389C>T	ENST00000395813.1	+	8	695	c.509C>T	c.(508-510)tCa>tTa	p.S170L	CAST_ENST00000511782.1_Missense_Mutation_p.S73L|CAST_ENST00000511049.1_Missense_Mutation_p.S73L|CAST_ENST00000510756.1_Missense_Mutation_p.S148L|CAST_ENST00000509903.1_Missense_Mutation_p.S65L|CAST_ENST00000508830.1_Missense_Mutation_p.S170L|CAST_ENST00000508608.1_Missense_Mutation_p.S133L|CAST_ENST00000395812.2_Missense_Mutation_p.S129L|CAST_ENST00000504465.1_Missense_Mutation_p.S65L|CAST_ENST00000359176.4_Missense_Mutation_p.S151L|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000341926.3_Missense_Mutation_p.S87L|CAST_ENST00000338252.3_Missense_Mutation_p.S87L|CAST_ENST00000325674.7_Missense_Mutation_p.S148L|CAST_ENST00000309190.5_Missense_Mutation_p.S65L			P20810	ICAL_HUMAN	calpastatin	87							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GTTTCCAGATCAGCTGAACAG	0.423000													5	32					0	0	0.000602	0	0
LILRA5	353514	broad.mit.edu	37	19	54823298	54823298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:54823298C>T	ENST00000301219.3	-	4	364	c.245G>A	c.(244-246)gGa>gAa	p.G82E	LILRA5_ENST00000432233.3_Missense_Mutation_p.G82E|LILRA5_ENST00000446712.3_Missense_Mutation_p.G70E|LILRA5_ENST00000346508.3_Missense_Mutation_p.G70E|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	82	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCTGGGCTTCCCTCTTTAAC	0.597000													21	115					0	0	0.001523	0	0
MAN2C1	4123	broad.mit.edu	37	15	75654998	75654998	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:75654998G>A	ENST00000565683.1	-	7	893	c.882C>T	c.(880-882)atC>atT	p.I294I	MAN2C1_ENST00000563622.1_Intron|MAN2C1_ENST00000267978.5_Silent_p.I294I|MAN2C1_ENST00000569482.1_Silent_p.I294I	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	294					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						AGCAGGCAAAGATGAACTCAG	0.632000													8	59					0	0	0.003080	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48840277	48840277	+	Silent	SNP	T	T	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:48840277T>C	ENST00000376423.4	-	14	1055	c.1023A>G	c.(1021-1023)tcA>tcG	p.S341S	GRIPAP1_ENST00000376425.3_Silent_p.S363S|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Silent_p.S349S|GRIPAP1_ENST00000376441.1_Silent_p.S394S	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	394						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TGGCCCGTAATGACTCCTAAT	0.507000													11	101					0	0	0.008291	0	0
CMTR2	55783	broad.mit.edu	37	16	71318845	71318845	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:71318845G>A	ENST00000338099.5	-	3	1315	c.979C>T	c.(979-981)Cat>Tat	p.H327Y	FTSJD1_ENST00000434935.2_Missense_Mutation_p.H327Y			Q8IYT2	FTSJ1_HUMAN		327						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AACAGAGGATGGATGGCCTCT	0.423000													12	81					0	0	0.001368	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74911402	74911402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:74911402C>T	ENST00000289575.5	+	11	2128	c.1733C>T	c.(1732-1734)aCc>aTc	p.T578I	SLCO2B1_ENST00000341411.4_Missense_Mutation_p.T351I|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.T462I|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.T323I|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.T434I|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.T351I|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.T556I	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	578					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GCCTGTCTCACCCACACACCC	0.622000													28	154					0	0	0.002836	0	0
AFF4	27125	broad.mit.edu	37	5	132232412	132232412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:132232412G>A	ENST00000265343.5	-	11	2289	c.1910C>T	c.(1909-1911)tCc>tTc	p.S637F	AFF4_ENST00000378595.3_Missense_Mutation_p.S637F	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	637					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGATTTCTGGGAAGATTTACT	0.428000													6	23					0	0	0.001984	0	0
SLC7A4	6545	broad.mit.edu	37	22	21384498	21384498	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr22:21384498C>T	ENST00000382932.2	-	3	1192	c.1125G>A	c.(1123-1125)ggG>ggA	p.G375G	SLC7A4_ENST00000403586.1_Silent_p.G375G	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	375					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCGTGAGGAGCCCGAACGCCA	0.632000													9	67					0	0	0.004482	0	0
SLC45A4	57210	broad.mit.edu	37	8	142225904	142225904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:142225904G>A	ENST00000519067.1	-	6	2045	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F	SLC45A4_ENST00000024061.3_Missense_Mutation_p.S581F|SLC45A4_ENST00000433583.2_Missense_Mutation_p.S574F|SLC45A4_ENST00000517878.1_Missense_Mutation_p.S632F			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	632					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGGGCAGTAGGAGATGCTCAT	0.607000													10	118					0	0	0.006214	0	0
CENPB	1059	broad.mit.edu	37	20	3766206	3766206	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:3766206G>A	ENST00000379751.4	-	1	1131	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	309					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						ACATGCCGCAGGCCCGAGGTG	0.662000													3	20					0	0	0.000248	0	0
FOXK2	3607	broad.mit.edu	37	17	80543958	80543958	+	Silent	SNP	C	C	G	rs148659399		TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:80543958C>G	ENST00000335255.5	+	7	1632	c.1458C>G	c.(1456-1458)gcC>gcG	p.A486A		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	486					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CCAGTGTGGCCGGACTGGCCC	0.662000													6	58					0	0	0.006214	0	0
MPEG1	219972	broad.mit.edu	37	11	58980257	58980257	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:58980257C>T	ENST00000361050.3	-	1	167	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	28						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				ACTCCAACTTCGTCCATCTCT	0.557000													6	41					0	0	0.003080	0	0
COX5B	1329	broad.mit.edu	37	2	98264520	98264520	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:98264520C>T	ENST00000258424.2	+	4	386	c.339C>T	c.(337-339)tgC>tgT	p.C113C	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	113					respiratory electron transport chain|respiratory gaseous exchange	mitochondrial inner membrane	cytochrome-c oxidase activity|metal ion binding			endometrium(1)|lung(1)|urinary_tract(1)	3						CCCAGCGATGCCCCCGCTGTG	0.507000													9	47					0	0	0.004482	0	0
CD5L	922	broad.mit.edu	37	1	157803059	157803059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:157803059G>A	ENST00000368174.4	-	5	1058	c.962C>T	c.(961-963)tCc>tTc	p.S321F		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	321	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTGCTCCAGGGACTGCTCCTC	0.572000													7	75					0	0	0.001984	0	0
CYP4X1	260293	broad.mit.edu	37	1	47505044	47505044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:47505044G>A	ENST00000371901.3	+	8	1163	c.913G>A	c.(913-915)Gat>Aat	p.D305N	CYP4X1_ENST00000538609.1_Missense_Mutation_p.D304N|CYP4X1_ENST00000466294.1_3'UTR	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	305						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CTCAGATATTGATGTACACTC	0.408000													4	18					0	0	0.001168	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825856	146825856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:146825856G>A	ENST00000361727.3	+	7	1527	c.1011G>A	c.(1009-1011)atG>atA	p.M337I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	337	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.M337I(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAGGCTGCATGGAAAGCATCA	0.413000										HNSCC(39;0.1)			4	36					0	0	0.000602	0	0
LRRN2	10446	broad.mit.edu	37	1	204587262	204587262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:204587262G>A	ENST00000367175.1	-	1	4071	c.1859C>T	c.(1858-1860)tCt>tTt	p.S620F	LRRN2_ENST00000367176.3_Missense_Mutation_p.S620F|LRRN2_ENST00000367177.3_Missense_Mutation_p.S620F			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	620					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TCTGTGGCAAGAAGTGGCCTC	0.627000													12	39					0	0	0.001368	0	0
POLA1	5422	broad.mit.edu	37	X	24859900	24859900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:24859900C>T	ENST00000379068.3	+	33	3911	c.3868C>T	c.(3868-3870)Cct>Tct	p.P1290S	POLA1_ENST00000379059.3_Missense_Mutation_p.P1284S			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1284					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ATGTCCATGCCCTACATGTGG	0.388000													4	18					0	0	0.000248	0	0
CA6	765	broad.mit.edu	37	1	9019055	9019055	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:9019055C>T	ENST00000377443.2	+	4	499	c.495C>T	c.(493-495)ttC>ttT	p.F165F	CA6_ENST00000377436.3_Silent_p.F165F|CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Silent_p.F105F	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	165					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	p.F165F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCAGCCTTCGTTGAGGTAA	0.408000													24	106					0	0	0.003330	0	0
SPSB4	92369	broad.mit.edu	37	3	140785598	140785598	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:140785598G>A	ENST00000310546.2	+	2	1396	c.652G>A	c.(652-654)Ggc>Agc	p.G218S		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	218	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						TGCCGTGTGGGGCCACTGTGA	0.622000													5	64					0	0	0.001168	0	0
POSTN	10631	broad.mit.edu	37	13	38137495	38137495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr13:38137495C>T	ENST00000379747.4	-	23	2603	c.2486G>A	c.(2485-2487)cGa>cAa	p.R829Q	POSTN_ENST00000379749.4_Missense_Mutation_p.R801Q|POSTN_ENST00000379742.4_Missense_Mutation_p.R772Q|POSTN_ENST00000541481.1_Missense_Mutation_p.R742Q|POSTN_ENST00000541179.1_Missense_Mutation_p.R774Q|POSTN_ENST00000379743.4_Missense_Mutation_p.R802Q	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	829					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTCCCTTAATCGTCTTCTAGA	0.303000													4	33					0	0	0.001168	0	0
HCFC1	3054	broad.mit.edu	37	X	153219122	153219122	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:153219122G>A	ENST00000310441.7	-	18	5399	c.4433C>T	c.(4432-4434)tCc>tTc	p.S1478F	HCFC1_ENST00000354233.3_Missense_Mutation_p.S1409F|HCFC1_ENST00000369984.4_Missense_Mutation_p.S1478F	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1478					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTCAGTGTGGAGGACACGGT	0.672000													12	79					0	0	0.001368	0	0
MYH4	4622	broad.mit.edu	37	17	10351223	10351223	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:10351223A>G	ENST00000255381.2	-	34	4987	c.4877T>C	c.(4876-4878)cTt>cCt	p.L1626P	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1626					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CATTTCATTAAGATCTCCCTC	0.468000													11	93					0	0	0.000978	0	0
NOTCH4	4855	broad.mit.edu	37	6	32190333	32190333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:32190333G>A	ENST00000375023.3	-	3	544	c.406C>T	c.(406-408)Cag>Tag	p.Q136*		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	136	EGF-like 3.				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						CCCGAGGCCTGGATGTGGCAG	0.637000													63	475					0	0	0.003610	0	0
ARPC1A	10552	broad.mit.edu	37	7	98941935	98941935	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:98941935G>A	ENST00000432884.2	+	6	509	c.48G>A	c.(46-48)aaG>aaA	p.K16K	ARPC1A_ENST00000262942.5_Silent_p.K63K			Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	63					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			GGGCTCCCAAGAGCGACCGCA	0.532000													4	35					0	0	0.000248	0	0
BMPER	168667	broad.mit.edu	37	7	34009962	34009962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:34009962G>A	ENST00000297161.2	+	6	798	c.424G>A	c.(424-426)Ggg>Agg	p.G142R	BMPER_ENST00000426693.1_Missense_Mutation_p.G142R	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	142	VWFC 2.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CACAGAGTCTGGGGTGCGCTG	0.493000													7	46					0	0	0.003080	0	0
EPHB2	2048	broad.mit.edu	37	1	23240062	23240062	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:23240062G>A	ENST00000374632.3	+	16	2976	c.2963G>A	c.(2962-2964)tGa>tAa	p.*988*	EPHB2_ENST00000374627.1_3'UTR|EPHB2_ENST00000400191.3_Intron|EPHB2_ENST00000374630.3_Silent_p.*987*			P29323	EPHB2_HUMAN	EPH receptor B2	0					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTGGAGGTTTGACATTCACCT	0.607000													9	41					0	0	0.004482	0	0
BPIFB6	128859	broad.mit.edu	37	20	31620862	31620862	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:31620862G>A	ENST00000349552.1	+	2	170	c.170G>A	c.(169-171)gGg>gAg	p.G57E		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	57						extracellular region	lipid binding										AAACAGCCAGGGATGAAACCT	0.562000													14	84					0	0	0.003163	0	0
VPS13D	55187	broad.mit.edu	37	1	12416123	12416123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:12416123C>T	ENST00000358136.3	+	48	9977	c.9847C>T	c.(9847-9849)Cca>Tca	p.P3283S	VPS13D_ENST00000356315.4_Missense_Mutation_p.P3258S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3282					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CATTTCTGCTCCATATTGGCT	0.448000													5	47					0	0	0.001984	0	0
PRDM4	11108	broad.mit.edu	37	12	108147758	108147758	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:108147758G>A	ENST00000228437.5	-	4	733	c.274C>T	c.(274-276)Cta>Tta	p.L92L	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	92					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						GGTGGAGGTAGGGTGTAGTTT	0.478000													8	58					0	0	0.006214	0	0
RNASEL	6041	broad.mit.edu	37	1	182554562	182554562	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:182554562A>T	ENST00000367559.3	-	2	1633	c.1380T>A	c.(1378-1380)ttT>ttA	p.F460L	RNASEL_ENST00000539397.1_Missense_Mutation_p.F460L|RNASEL_ENST00000444138.1_Missense_Mutation_p.F460L	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	460	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CATTTCGGGCAAATTCATCTT	0.463000													7	38					0	0	0.001984	0	0
ADH1C	126	broad.mit.edu	37	4	100261809	100261809	+	RNA	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:100261809G>A	ENST00000515683.1	-	0	1238					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GGAATCAGGAGGTACCCCTAC	0.468000													9	70					0	0	0.008291	0	0
REST	5978	broad.mit.edu	37	4	57797292	57797292	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:57797292C>T	ENST00000309042.7	+	4	2582	c.2268C>T	c.(2266-2268)gtC>gtT	p.V756V		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	756	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	p.M753_P768delMEVVQKEPVKIELSPP(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TGGAGGTGGTCCAGAAGGAAC	0.552000													37	247					0	0	0.004878	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48603480	48603480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:48603480G>A	ENST00000323776.5	+	14	2312	c.2150G>A	c.(2149-2151)aGa>aAa	p.R717K	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.R680K	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	680					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CAGAAGGCCAGAGTGGGGACC	0.602000													24	88					0	0	0.002299	0	0
PAX4	5078	broad.mit.edu	37	7	127253886	127253886	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:127253886G>A	ENST00000341640.2	-	4	667	c.462C>T	c.(460-462)ccC>ccT	p.P154P	PAX4_ENST00000378740.2_Silent_p.P154P|PAX4_ENST00000338516.3_Silent_p.P162P|PAX4_ENST00000463946.1_Silent_p.P152P	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	162					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGGTACCCCGGGGAGTCTCAG	0.572000													23	62					0	0	0.002780	0	0
PRKCB	5579	broad.mit.edu	37	16	23847548	23847548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:23847548G>A	ENST00000303531.7	+	1	204	c.52G>A	c.(52-54)Gtg>Atg	p.V18M	PRKCB_ENST00000498058.1_Missense_Mutation_p.V18M|PRKCB_ENST00000321728.7_Missense_Mutation_p.V18M	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	18					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GGAGAGCACCGTGCGCTTCGC	0.711000													8	50					0	0	0.003080	0	0
NELL2	4753	broad.mit.edu	37	12	44915913	44915913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:44915913G>A	ENST00000429094.2	-	18	2549	c.2045C>T	c.(2044-2046)cCc>cTc	p.P682L	NELL2_ENST00000551601.1_Missense_Mutation_p.P634L|NELL2_ENST00000452445.2_Missense_Mutation_p.P682L|NELL2_ENST00000437801.2_Missense_Mutation_p.P732L|NELL2_ENST00000333837.4_Missense_Mutation_p.P705L|NELL2_ENST00000395487.2_Missense_Mutation_p.P681L|NELL2_ENST00000549027.1_Missense_Mutation_p.P681L	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	682	VWFC 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ATCAACTGTGGGATTCTCACA	0.428000													5	34					0	0	0.000602	0	0
RAD1	5810	broad.mit.edu	37	5	34911751	34911751	+	Silent	SNP	C	C	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:34911751C>A	ENST00000382038.2	-	4	1893	c.474G>T	c.(472-474)ctG>ctT	p.L158L	RAD1_ENST00000341754.4_Silent_p.L158L	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 homolog (S. pombe)	158					DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			CCTCTGACTGCAGAATAATTT	0.423000								Other conserved DNA damage response genes					11	81					2.27111e-07	3.28633e-07	0.001368	1	0
ZFHX4	79776	broad.mit.edu	37	8	77766838	77766838	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:77766838C>T	ENST00000521891.2	+	10	8129	c.7681C>T	c.(7681-7683)Cct>Tct	p.P2561S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2516S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2516S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2535S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2516						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)			TCAAATGCCCCCTCAGGCCAG	0.493000										HNSCC(33;0.089)			7	24					0	0	0.001984	0	0
TSPYL6	388951	broad.mit.edu	37	2	54482630	54482630	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:54482630T>A	ENST00000317802.7	-	1	779	c.659A>T	c.(658-660)gAc>gTc	p.D220V	ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000606865.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	220					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GAGCGCCCTGTCAGCCTCTGC	0.622000													6	77					0	0	0.001168	0	0
PLXNA3	55558	broad.mit.edu	37	X	153697519	153697519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:153697519C>T	ENST00000369682.3	+	26	4730	c.4555C>T	c.(4555-4557)Ccg>Tcg	p.P1519S	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1519					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					CAAGGGCATTCCGTACTCCCA	0.602000													22	116					0	0	0.001882	0	0
TRPC3	7222	broad.mit.edu	37	4	122831397	122831397	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:122831397C>T	ENST00000264811.5	-	5	1903	c.1485G>A	c.(1483-1485)acG>acA	p.T495T	TRPC3_ENST00000379645.3_Silent_p.T568T|TRPC3_ENST00000513531.1_Silent_p.T440T	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	483					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTTGTGCCTTCGTTGCCTGAA	0.453000													4	25					0	0	0.000602	0	0
LCTL	197021	broad.mit.edu	37	15	66856293	66856293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:66856293C>T	ENST00000341509.5	-	3	457	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	LCTL_ENST00000563438.1_5'UTR|LCTL_ENST00000537670.1_5'UTR	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	109					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGGAGAATCGGTAGTGGTT	0.622000													10	92					0	0	0.001368	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077387	32077387	+	RNA	SNP	A	A	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:32077387A>G	ENST00000354689.6	+	0	2				RP11-1166P10.6_ENST00000566806.1_RNA																							GCCCAGTGTGAGGTGCAGCTG	0.537000													20	100					0	0	0.008871	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320203	79320203	+	Silent	SNP	C	C	T	rs150789659	by1000genomes	TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr9:79320203C>T	ENST00000428286.1	-	8	7110	c.5910G>A	c.(5908-5910)ccG>ccA	p.P1970P	PRUNE2_ENST00000376718.3_Silent_p.P2329P			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2329					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTGGCGTTTCCGGATGGCCTT	0.478000													9	23					0	0	0.004482	0	0
GREB1	9687	broad.mit.edu	37	2	11706713	11706713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:11706713G>A	ENST00000381486.2	+	4	685	c.385G>A	c.(385-387)Gac>Aac	p.D129N	GREB1_ENST00000234142.5_Missense_Mutation_p.D129N|GREB1_ENST00000389825.3_Missense_Mutation_p.D19N|GREB1_ENST00000263834.5_Missense_Mutation_p.D129N|GREB1_ENST00000381483.2_Missense_Mutation_p.D129N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	129						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)		CAGCCTGCCGGACCATCTCCT	0.587000													8	105					0	0	0.004482	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86542321	86542321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:86542321G>A	ENST00000450689.2	-	14	2116	c.1931C>T	c.(1930-1932)tCc>tTc	p.S644F	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.P598S|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.S477F|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.S404F	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	644						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CTGATGTATGGACAGGTAGGT	0.502000													8	12					0	0	0.003080	0	0
CDCA7	83879	broad.mit.edu	37	2	174224214	174224214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:174224214G>A	ENST00000306721.3	+	3	482	c.379G>A	c.(379-381)Gga>Aga	p.G127R	CDCA7_ENST00000410019.3_Intron|CDCA7_ENST00000392567.2_Intron|CDCA7_ENST00000410101.3_Missense_Mutation_p.G83R|CDCA7_ENST00000347703.3_Intron	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	48					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GATACAAGATGGAATGGTGAG	0.373000													8	47					0	0	0.003080	0	0
OR2A25	392138	broad.mit.edu	37	7	143771756	143771756	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:143771756G>A	ENST00000408898.2	+	1	482	c.444G>A	c.(442-444)tgG>tgA	p.W148*		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGACTTCCTGGATTTTAGGAG	0.458000													25	109					0	0	0.002780	0	0
ASH1L	55870	broad.mit.edu	37	1	155348300	155348300	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:155348300G>A	ENST00000368346.3	-	9	6871	c.6232C>T	c.(6232-6234)Cgt>Tgt	p.R2078C	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2073C			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2078					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.R2073C(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCACTTGAACGAATTTTCTTA	0.343000													6	35					0	0	0.001168	0	0
ADAM18	8749	broad.mit.edu	37	8	39564371	39564371	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:39564371C>T	ENST00000265707.5	+	18	2010	c.1965C>T	c.(1963-1965)ttC>ttT	p.F655F	ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000541111.1_Silent_p.F69F|ADAM18_ENST00000379866.1_Silent_p.F631F	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	655					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATTGTAAATTCCAGTTTGGTT	0.338000													21	69					0	0	0.003954	0	0
MUC16	94025	broad.mit.edu	37	19	9073638	9073638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:9073638C>T	ENST00000397910.4	-	3	14011	c.13808G>A	c.(13807-13809)cGa>cAa	p.R4603Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4605	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R4603Q(3)|p.R236Q(2)		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						GTTCTCTTTTCGTCCAGCAGT	0.502000													4	11					0	0	0.000602	0	0
MAPK4	5596	broad.mit.edu	37	18	48190559	48190559	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr18:48190559C>T	ENST00000400384.2	+	2	1267	c.231C>T	c.(229-231)atC>atT	p.I77I	MAPK4_ENST00000588540.1_Silent_p.I77I|MAPK4_ENST00000592595.1_Silent_p.I77I|MAPK4_ENST00000540640.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	77	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		ACGACAACATCGTCAAAGTGT	0.582000													12	62					0	0	0.001368	0	0
KCNB2	9312	broad.mit.edu	37	8	73480026	73480026	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:73480026C>T	ENST00000523207.1	+	2	645	c.57C>T	c.(55-57)tcC>tcT	p.S19S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	19					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CGACACTTTCCCTTCCTCCAG	0.517000													8	31					0	0	0.004482	0	0
TKTL2	84076	broad.mit.edu	37	4	164393616	164393616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:164393616G>A	ENST00000280605.3	-	1	1431	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	424						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)				TTCTCCAGTGGATACCCCACA	0.483000													9	66					0	0	0.004482	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153312963	153312963	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:153312963G>A	ENST00000368739.3	-	7	1064	c.706C>T	c.(706-708)Cac>Tac	p.H236Y	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.H240Y			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	240					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCGGCAGTGTGGATAATGATG	0.582000													12	25					0	0	0.000978	0	0
GDF5	8200	broad.mit.edu	37	20	34021881	34021881	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:34021881C>T	ENST00000374372.1	-	4	1835	c.1332G>A	c.(1330-1332)acG>acA	p.T444T	GDF5_ENST00000374369.3_Silent_p.T444T|GDF5OS_ENST00000374375.1_5'UTR			P43026	GDF5_HUMAN	growth differentiation factor 5	444					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CTGCATGATTCGTGGGCTCCA	0.612000													12	56					0	0	0.000978	0	0
CDH15	1013	broad.mit.edu	37	16	89256854	89256854	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:89256854G>A	ENST00000289746.2	+	8	1247	c.1182G>A	c.(1180-1182)gtG>gtA	p.V394V		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	394	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GCACTCTGGTGGCCACCTTCT	0.662000													4	26					0	0	0.000248	0	0
FAT2	2196	broad.mit.edu	37	5	150947448	150947448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:150947448C>T	ENST00000261800.5	-	1	1057	c.1045G>A	c.(1045-1047)Ggc>Agc	p.G349S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	349					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTGAAAGCCCCTGATCTGG	0.522000													16	99					0	0	0.004007	0	0
TRPM5	29850	broad.mit.edu	37	11	2439807	2439807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:2439807C>T	ENST00000452833.1	-	5	678	c.670G>A	c.(670-672)Gag>Aag	p.E224K	TRPM5_ENST00000528453.1_Missense_Mutation_p.E222K|TRPM5_ENST00000533060.1_Missense_Mutation_p.E222K|TRPM5_ENST00000155858.6_Missense_Mutation_p.E222K			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	222						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACAGGGATCTCGATGCTGCCA	0.642000													40	286					0	0	0.002222	0	0
IGF2R	3482	broad.mit.edu	37	6	160517543	160517543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:160517543C>T	ENST00000356956.1	+	45	6876	c.6728C>T	c.(6727-6729)aCc>aTc	p.T2243I	IGF2R_ENST00000475584.1_3'UTR	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2243					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GTTTCTTCCACCATCTTCTTC	0.547000													18	139					0	0	0.007413	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18142719	18142719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:18142719C>T	ENST00000278816.2	+	6	1588	c.938C>T	c.(937-939)tCc>tTc	p.S313F	CSRP2BP_ENST00000377681.2_Missense_Mutation_p.S312F|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.S185F|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.S313F			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	313					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						ATTGACTTTTCCTCCTTGAGC	0.527000													6	66					0	0	0.001168	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	163322	163322	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:163322G>A	ENST00000283426.6	+	11	2117	c.2067G>A	c.(2065-2067)ggG>ggA	p.G689G		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	689					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GCCTTCCAGGGGCAGGGGCCA	0.672000													6	30					0	0	0.001168	0	0
TECTA	7007	broad.mit.edu	37	11	121016712	121016712	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:121016712C>T	ENST00000392793.1	+	12	4263	c.3992C>T	c.(3991-3993)tCt>tTt	p.S1331F	TECTA_ENST00000264037.2_Missense_Mutation_p.S1331F|TECTA_ENST00000478058.1_3'UTR			O75443	TECTA_HUMAN	tectorin alpha	1331					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)		CTGTTTGACTCTTGCATCGAT	0.572000													18	155					0	0	0.001523	0	0
CAMK1G	57172	broad.mit.edu	37	1	209785234	209785234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:209785234C>T	ENST00000009105.1	+	11	1258	c.1013C>T	c.(1012-1014)cCt>cTt	p.P338L	CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Missense_Mutation_p.P338L			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	338						Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AACAGGCCGCCTGAAACTCAA	0.602000													63	109					0	0	0.003610	0	0
RAD1	5810	broad.mit.edu	37	5	34911702	34911702	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:34911702C>G	ENST00000382038.2	-	4	1942	c.523G>C	c.(523-525)Gaa>Caa	p.E175Q	RAD1_ENST00000341754.4_Missense_Mutation_p.E175Q	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 homolog (S. pombe)	175					DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TGTAGGACTTCACTCGTCATA	0.413000								Other conserved DNA damage response genes					11	75					0	0	0.008291	0	0
CALML5	51806	broad.mit.edu	37	10	5541065	5541065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:5541065G>A	ENST00000380332.3	-	1	468	c.337C>T	c.(337-339)Ccg>Tcg	p.P113S		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	113	EF-hand 3.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						TGCGGCAGCGGCTGCCCCAGC	0.706000													5	23					0	0	0.000602	0	0
CD1C	911	broad.mit.edu	37	1	158262056	158262056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:158262056G>A	ENST00000368170.3	+	3	790	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	171					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TCATCAGTATGAAGGCGTCAC	0.463000													16	108					0	0	0.004990	0	0
ABCC1	4363	broad.mit.edu	37	16	16215945	16215945	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:16215945C>T	ENST00000399408.2	+	25	3709	c.3534C>T	c.(3532-3534)ttC>ttT	p.F1178F	ABCC1_ENST00000399410.3_Silent_p.F1168F|ABCC1_ENST00000345148.5_Silent_p.F1168F|ABCC1_ENST00000346370.5_Silent_p.F1112F|ABCC1_ENST00000349029.5_Silent_p.F1053F|ABCC1_ENST00000351154.5_Silent_p.F1109F			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1168	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TTCGAGCCTTCGAGGAGCAGG	0.612000													6	47					0	0	0.001984	0	0
EXOSC5	56915	broad.mit.edu	37	19	41898821	41898821	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:41898821G>A	ENST00000221233.4	-	2	363	c.213C>T	c.(211-213)ttC>ttT	p.F71F	BCKDHA_ENST00000595085.1_Intron|EXOSC5_ENST00000596905.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	71					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TGGCCTTGTTGAAAATCTCTT	0.572000													13	88					0	0	0.002450	0	0
CAP2	10486	broad.mit.edu	37	6	17539604	17539604	+	Silent	SNP	C	C	T	rs150167032		TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:17539604C>T	ENST00000229922.2	+	8	1273	c.741C>T	c.(739-741)ttC>ttT	p.F247F	CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Silent_p.F183F|CAP2_ENST00000378990.2_Silent_p.F221F|CAP2_ENST00000489374.1_Silent_p.F135F	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	247					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CTCCACTTTTCGAGAATGAAG	0.507000													15	61					0	0	0.004007	0	0
KMT2D	8085	broad.mit.edu	37	12	49432233	49432233	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:49432233G>A	ENST00000301067.7	-	34	8905	c.8906C>T	c.(8905-8907)tCg>tTg	p.S2969L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTCAGTGCTCGACGGGGGCCG	0.612000													27	157					0	0	0.008361	0	0
OR52M1	119772	broad.mit.edu	37	11	4566953	4566953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:4566953C>T	ENST00000360213.1	+	1	533	c.533C>T	c.(532-534)tCc>tTc	p.S178F		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	178					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)		CATGTTATCTCCCACTCCTAC	0.527000													6	34					0	0	0.001984	0	0
SEPT14	346288	broad.mit.edu	37	7	55874819	55874819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:55874819C>T	ENST00000388975.3	-	8	1066	c.950G>A	c.(949-951)gGc>gAc	p.G317D		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	317					cell cycle|cell division	septin complex	GTP binding|protein binding	p.G106V(1)|p.G106F(1)|p.G317F(1)|p.G317V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATCTGTAAAGCCCATTTTCTG	0.383000													9	72					0	0	0.004482	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819321	159819321	+	RNA	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:159819321G>A	ENST00000497452.1	-	0	517																											ACTCAGGGATGAAAATTCTTA	0.388000													26	170					0	0	0.003330	0	0
ISOC2	79763	broad.mit.edu	37	19	55967743	55967743	+	Silent	SNP	G	G	A	rs11555785	by1000genomes	TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:55967743G>A	ENST00000438389.2	-	2	945	c.111C>T	c.(109-111)atC>atT	p.I37I	ISOC2_ENST00000085068.3_Silent_p.I37I|ISOC2_ENST00000425675.2_Silent_p.I37I	NM_001136202.1	NP_001129674.1	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	101					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		CCACTGAGACGATCTGTGGGA	0.627000													19	107					0	0	0.007413	0	0
ASXL3	80816	broad.mit.edu	37	18	31323465	31323465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr18:31323465C>T	ENST00000269197.5	+	12	3653	c.3653C>T	c.(3652-3654)tCa>tTa	p.S1218L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1218	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAAATTGTTTCATCTACCTCT	0.373000													13	52					0	0	0.001855	0	0
SPAG17	200162	broad.mit.edu	37	1	118598527	118598527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:118598527C>T	ENST00000336338.5	-	19	2616	c.2551G>A	c.(2551-2553)Gaa>Aaa	p.E851K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	851						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)		GCAACAAGTTCCAAATAATTC	0.318000													9	42					0	0	0.000978	0	0
AMIGO1	57463	broad.mit.edu	37	1	110051032	110051032	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:110051032T>A	ENST00000369864.4	-	2	852	c.503A>T	c.(502-504)aAc>aTc	p.N168I	AMIGO1_ENST00000369862.1_Missense_Mutation_p.N168I			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	168					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		AGAGATCTGGTTCTGGCTCAA	0.532000													20	234					0	0	0.002299	0	0
PRR5L	79899	broad.mit.edu	37	11	36472831	36472831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:36472831C>T	ENST00000378867.3	+	9	1013	c.658C>T	c.(658-660)Cct>Tct	p.P220S	PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Missense_Mutation_p.P220S|PRR5L_ENST00000311599.5_Missense_Mutation_p.P147S	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	220										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						AGTGGTTTCTCCTTTCCTCGG	0.532000													13	59					0	0	0.001855	0	0
PRSS22	64063	broad.mit.edu	37	16	2906157	2906157	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:2906157C>T	ENST00000161006.3	-	3	272	c.207G>A	c.(205-207)aaG>aaA	p.K69K	PRSS22_ENST00000571228.1_Silent_p.K69K|PRSS22_ENST00000574768.1_5'UTR	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	69	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GGGTCCCATTCTTCTGGATGC	0.627000													11	101					0	0	0.000978	0	0
ARIH2OS	646450	broad.mit.edu	37	3	48956246	48956246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:48956246G>A	ENST00000408959.2	-	1	572	c.337C>T	c.(337-339)Ccg>Tcg	p.P113S		NM_001123040.1	NP_001116512.1			ariadne homolog 2 opposite strand																		CCCCGATCCGGAAGTGACGCA	0.687000													8	38					0	0	0.004482	0	0
LRTM1	57408	broad.mit.edu	37	3	54952852	54952852	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:54952852G>A	ENST00000273286.5	-	3	834	c.672C>T	c.(670-672)atC>atT	p.I224I	CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Silent_p.I148I|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	224	LRRCT.					integral to membrane		p.I224I(1)		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)		GCTCATGAGGGATCCTAAGGA	0.542000													6	28					0	0	0.004482	0	0
FNDC3A	22862	broad.mit.edu	37	13	49772281	49772281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr13:49772281C>T	ENST00000492622.2	+	22	2959	c.2654C>T	c.(2653-2655)cCt>cTt	p.P885L	FNDC3A_ENST00000541916.1_Missense_Mutation_p.P885L|FNDC3A_ENST00000398316.3_Missense_Mutation_p.P829L	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	885	Fibronectin type-III 7.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGGGAAAAGCCTTGTGATCAT	0.403000													4	45					0	0	0.000602	0	0
TECTA	7007	broad.mit.edu	37	11	121058591	121058591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:121058591C>T	ENST00000392793.1	+	21	6321	c.6050C>T	c.(6049-6051)tCc>tTc	p.S2017F	TECTA_ENST00000264037.2_Missense_Mutation_p.S2017F			O75443	TECTA_HUMAN	tectorin alpha	2017	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)		AATGCAGTCTCCCTGACCTGT	0.433000													13	73					0	0	0.003163	0	0
ACSBG1	23205	broad.mit.edu	37	15	78470956	78470956	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr15:78470956C>T	ENST00000258873.4	-	11	1907	c.1702_splice	c.e11+1	p.E568_splice	ACSBG1_ENST00000541759.1_Splice_Site_p.E326_splice|ACSBG1_ENST00000560817.1_Splice_Site_p.E326_splice	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	568					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GGGTGCTCACCTTTGAGGCGC	0.617000													6	30					0	0	0.001168	0	0
MYH2	4620	broad.mit.edu	37	17	10440552	10440552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:10440552C>T	ENST00000245503.5	-	16	2279	c.1895G>A	c.(1894-1896)gGa>gAa	p.G632E	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.G632E|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.G632E	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	632	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGCATTACCTCCTTCAGCAGT	0.438000													10	49					0	0	0.008291	0	0
BLK	640	broad.mit.edu	37	8	11407733	11407733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:11407733C>T	ENST00000259089.4	+	6	1026	c.434C>T	c.(433-435)gCc>gTc	p.A145V	BLK_ENST00000529894.1_Missense_Mutation_p.A74V	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	145	SH2.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		ATCAACAAGGCCGGCTCCTTT	0.557000													13	152					0	0	0.004990	0	0
RUVBL2	10856	broad.mit.edu	37	19	49514512	49514512	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:49514512C>T	ENST00000413176.2	+	11	1959	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L	RUVBL2_ENST00000601968.1_Silent_p.L271L|RUVBL2_ENST00000595090.1_Silent_p.L316L			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	316					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		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)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CAACCGGGCCCTGGAGAGTGA	0.612000													16	58					0	0	0.004007	0	0
UGT3A1	133688	broad.mit.edu	37	5	35955811	35955811	+	Missense_Mutation	SNP	G	G	A	rs141143848	byFrequency	TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:35955811G>A	ENST00000274278.3	-	6	1588	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	UGT3A1_ENST00000507113.1_Missense_Mutation_p.R377W|UGT3A1_ENST00000503189.1_Missense_Mutation_p.R411W	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	411						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)			TGATTCAACCGGATAGAGACA	0.483000													11	93					0	0	0.000978	0	0
ADAM18	8749	broad.mit.edu	37	8	39587442	39587442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:39587442G>A	ENST00000265707.5	+	20	2248	c.2203G>A	c.(2203-2205)Gat>Aat	p.D735N	ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000541111.1_Missense_Mutation_p.D149N|ADAM18_ENST00000379866.1_Missense_Mutation_p.D711N	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	735					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATCAGAAAGCGATGACGTGGG	0.328000													25	100					0	0	0.001786	0	0
COPG2	26958	broad.mit.edu	37	7	130295862	130295862	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:130295862G>A	ENST00000445977.2	-	9	788	c.699C>T	c.(697-699)atC>atT	p.I233I				Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	233					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					TGGCAATTCGGATCAGCATGC	0.383000													47	178					0	0	0.003610	0	0
KMT2D	8085	broad.mit.edu	37	12	49434652	49434652	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:49434652G>A	ENST00000301067.7	-	31	6900	c.6901C>T	c.(6901-6903)Ccc>Tcc	p.P2301S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGGTTTGGGGGCCCATAGCTA	0.612000													11	64					0	0	0.008291	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035968	36035968	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:36035968C>T	ENST00000282507.3	-	7	1505	c.1404G>A	c.(1402-1404)gcG>gcA	p.A468A	UGT3A2_ENST00000545528.1_Silent_p.A166A|UGT3A2_ENST00000513300.1_Silent_p.A434A	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	468						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGGTGCGTCGCGCCCCCTG	0.637000													6	44					0	0	0.001168	0	0
OR8H3	390152	broad.mit.edu	37	11	55890093	55890093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:55890093C>T	ENST00000313472.3	+	1	245	c.245C>T	c.(244-246)aCc>aTc	p.T82I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ACACCTAAAACCTTAGCGAAC	0.433000													11	90					0	0	0.003163	0	0
RBM15B	29890	broad.mit.edu	37	3	51430259	51430259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:51430259C>T	ENST00000323686.4	+	1	1529	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	477	RRM 3.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGGGGTTTTCCCTTGGGTGG	0.562000													16	94					0	0	0.004007	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543088	133543088	+	Silent	SNP	C	C	T	rs142356779		TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:133543088C>T	ENST00000409261.1	-	14	1669	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.S432S|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	432							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCCTTCATTCGAGTTCATGC	0.463000													6	40					0	0	0.001168	0	0
KTN1	3895	broad.mit.edu	37	14	56084684	56084684	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr14:56084684T>C	ENST00000416613.1	+	3	736	c.664T>C	c.(664-666)Ttc>Ctc	p.F222L	KTN1_ENST00000395311.1_Missense_Mutation_p.F222L|KTN1_ENST00000395314.3_Missense_Mutation_p.F222L|KTN1_ENST00000395308.1_Missense_Mutation_p.F222L|KTN1_ENST00000413890.2_Missense_Mutation_p.F222L|KTN1_ENST00000438792.2_Missense_Mutation_p.F222L|KTN1_ENST00000395309.3_Missense_Mutation_p.F222L			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	222					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AATTGCAGTCTTCGTAGATGA	0.313000			T	RET	papillary thryoid								3	20					0	0	0.004672	0	0
H3F3C	440093	broad.mit.edu	37	12	31945009	31945009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:31945009G>A	ENST00000340398.3	-	1	166	c.92C>T	c.(91-93)cCc>cTc	p.P31L		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	31					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						GCAGGTAGAGGGGGTGCTTTT	0.587000										HNSCC(67;0.2)			15	83					0	0	0.004007	0	0
TRIM14	9830	broad.mit.edu	37	9	100862240	100862240	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr9:100862240C>T	ENST00000341469.2	-	3	519	c.510G>A	c.(508-510)caG>caA	p.Q170Q	TRIM14_ENST00000375098.3_Silent_p.Q170Q|TRIM14_ENST00000342043.3_Silent_p.Q170Q	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	170						cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GATCGGGCTCCTGGCTGATAC	0.532000													11	50					0	0	0.000978	0	0
KCNA5	3741	broad.mit.edu	37	12	5153890	5153890	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:5153890C>T	ENST00000252321.3	+	1	806	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	193						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CAACGTCTCCCTGGACGTGTT	0.617000													15	76					0	0	0.004007	0	0
TKT	7086	broad.mit.edu	37	3	53263300	53263300	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:53263300G>A	ENST00000462138.1	-	9	1348	c.1260C>T	c.(1258-1260)tcC>tcT	p.S420S	TKT_ENST00000296289.6_Silent_p.S373S|TKT_ENST00000423516.1_Silent_p.S428S|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Silent_p.S420S			P29401	TKT_HUMAN	transketolase	420					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)	ACTCACCGATGGAAACGCCGC	0.587000													8	37					0	0	0.003080	0	0
NHSL2	340527	broad.mit.edu	37	X	71360043	71360043	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:71360043C>T	ENST00000373677.1	+	2	2809	c.1547C>T	c.(1546-1548)cCa>cTa	p.P516L	NHSL2_ENST00000535692.1_Missense_Mutation_p.P516L|NHSL2_ENST00000510661.1_Missense_Mutation_p.P651L|NHSL2_ENST00000540800.1_Missense_Mutation_p.P882L			F5H593	F5H593_HUMAN	NHS-like 2	882										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CGGAGGCCTCCAAGCTTGGTC	0.552000													4	39					0	0	0.000248	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48898778	48898778	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:48898778C>T	ENST00000394754.1	+	10	3514	c.3400C>T	c.(3400-3402)Ctg>Ttg	p.L1134L	GTF2A1L_ENST00000430487.2_Silent_p.L396L|GTF2A1L_ENST00000403751.3_Silent_p.L430L|STON1-GTF2A1L_ENST00000309827.2_Silent_p.L1134L|STON1-GTF2A1L_ENST00000402114.2_Silent_p.L1134L|STON1-GTF2A1L_ENST00000394751.3_Silent_p.L1087L|STON1-GTF2A1L_ENST00000405008.1_Silent_p.L1134L	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1087					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGTGCCAGACCTGTTTGACAC	0.338000													14	67					0	0	0.004007	0	0
EP300	2033	broad.mit.edu	37	22	41573197	41573197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr22:41573197C>T	ENST00000263253.7	+	31	6701	c.5482C>T	c.(5482-5484)Ctt>Ttt	p.L1828F	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1828					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGCCCAAATGCTTCGCAGGAG	0.612000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				17	51					0	0	0.004990	0	0
WWC3	55841	broad.mit.edu	37	X	10085396	10085396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:10085396C>T	ENST00000380861.4	+	11	1688	c.1297C>T	c.(1297-1299)Ccc>Tcc	p.P433S	WWC3_ENST00000454666.1_Missense_Mutation_p.P433S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	433	Ser-rich.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GCCCCCAGGCCCCTCGGGCTT	0.662000													20	84					0	0	0.008871	0	0
KMT2D	8085	broad.mit.edu	37	12	49434651	49434651	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:49434651G>A	ENST00000301067.7	-	31	6901	c.6902C>T	c.(6901-6903)cCc>cTc	p.P2301L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CAGGTTTGGGGGCCCATAGCT	0.617000													11	64					0	0	0.008291	0	0
ANKRD32	84250	broad.mit.edu	37	5	94022323	94022323	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:94022323C>T	ENST00000265140.5	+	16	2440	c.2021C>T	c.(2020-2022)tCc>tTc	p.S674F		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	674										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TCCTTTTCCTCCTCCTGGCTT	0.373000													9	141					0	0	0.008291	0	0
OR8H3	390152	broad.mit.edu	37	11	55890553	55890553	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:55890553G>A	ENST00000313472.3	+	1	705	c.705G>A	c.(703-705)caG>caA	p.Q235Q		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CAGGAAAGCAGAAAGCTTTCT	0.413000													3	19					0	0	0.004672	0	0
SLA2	84174	broad.mit.edu	37	20	35242766	35242766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:35242766C>T	ENST00000262866.4	-	7	1029	c.607G>A	c.(607-609)Gat>Aat	p.D203N	SLA2_ENST00000360672.2_Missense_Mutation_p.G186E	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	203	SLA C-terminal.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AGGGGTATATCCTTGCCAGGG	0.567000													19	129					0	0	0.006122	0	0
SRGAP3	9901	broad.mit.edu	37	3	9066956	9066956	+	Missense_Mutation	SNP	G	G	A	rs146672079		TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:9066956G>A	ENST00000383836.3	-	14	2094	c.1667C>T	c.(1666-1668)tCc>tTc	p.S556F	SRGAP3_ENST00000360413.3_Missense_Mutation_p.S532F|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	556	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.S556F(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCTCTCAAAGGAATTTTTGAT	0.478000			T	RAF1	pilocytic astrocytoma								6	39					0	0	0.001984	0	0
CAMK1G	57172	broad.mit.edu	37	1	209785546	209785546	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:209785546A>C	ENST00000009105.1	+	11	1570	c.1325A>C	c.(1324-1326)aAg>aCg	p.K442T	CAMK1G_ENST00000361322.2_Missense_Mutation_p.K442T			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	442						Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTCCTCAAAAAGGCCAACAAA	0.532000													12	73					0	0	0.001368	0	0
CCDC88A	55704	broad.mit.edu	37	2	55544901	55544901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr2:55544901G>A	ENST00000436346.1	-	20	4242	c.3401C>T	c.(3400-3402)tCc>tTc	p.S1134F	CCDC88A_ENST00000263630.8_Missense_Mutation_p.S1134F|CCDC88A_ENST00000336838.6_Missense_Mutation_p.S1133F|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.S1133F|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1134					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ATTTTCTAAGGAAGACTGCTG	0.353000													6	34					0	0	0.001984	0	0
DEFB118	117285	broad.mit.edu	37	20	29956462	29956462	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr20:29956462C>T	ENST00000253381.2	+	1	42	c.9C>T	c.(7-9)ctC>ctT	p.L3L		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	3					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCATGAAACTCCTGCTGCTGG	0.493000													9	86					0	0	0.006214	0	0
MYOM2	9172	broad.mit.edu	37	8	2092691	2092691	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:2092691T>C	ENST00000262113.4	+	37	4325	c.4184T>C	c.(4183-4185)gTg>gCg	p.V1395A	MYOM2_ENST00000523438.1_Missense_Mutation_p.V820A|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1395	Ig-like C2-type 5.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCGGTGAAGGTGGAGCAGGCC	0.532000													16	109					0	0	0.006122	0	0
ATP2A3	489	broad.mit.edu	37	17	3839759	3839759	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:3839759A>C	ENST00000309890.7	-	16	2476	c.2326T>G	c.(2326-2328)Ttc>Gtc	p.F776V	ATP2A3_ENST00000397043.3_Missense_Mutation_p.F776V|ATP2A3_ENST00000397041.3_Missense_Mutation_p.F776V|ATP2A3_ENST00000352011.3_Missense_Mutation_p.F776V|ATP2A3_ENST00000397035.3_Missense_Mutation_p.F776V|ATP2A3_ENST00000359983.3_Missense_Mutation_p.F776V|ATP2A3_ENST00000397039.1_5'UTR	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	776					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCCGTGAGGAAGATGCTGGAA	0.637000													7	82					0	0	0.003080	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568299	7568299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr16:7568299G>A	ENST00000340209.4	+	2	490	c.193G>A	c.(193-195)Gag>Aag	p.E65K	RBFOX1_ENST00000535565.2_Missense_Mutation_p.E96K|RBFOX1_ENST00000547372.1_Missense_Mutation_p.E103K|RBFOX1_ENST00000550418.1_Missense_Mutation_p.E60K|RBFOX1_ENST00000355637.4_Missense_Mutation_p.E80K|RBFOX1_ENST00000552089.1_Missense_Mutation_p.E96K|RBFOX1_ENST00000436368.2_Missense_Mutation_p.E80K|RBFOX1_ENST00000553186.1_Missense_Mutation_p.E60K|RBFOX1_ENST00000311745.5_Missense_Mutation_p.E80K|RBFOX1_ENST00000547338.1_Missense_Mutation_p.E60K|RBFOX1_ENST00000422070.4_Missense_Mutation_p.E103K			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	60					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CACGGTTCCCGAGCACACATT	0.657000													19	183					0	0	0.007413	0	0
CD1E	913	broad.mit.edu	37	1	158323802	158323802	+	Silent	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr1:158323802C>T	ENST00000444681.2	+	1	317	c.24C>T	c.(22-24)ttC>ttT	p.F8F	CD1E_ENST00000368167.3_Silent_p.F8F|CD1E_ENST00000368157.1_Silent_p.F8F|CD1E_ENST00000368163.3_Silent_p.F8F|CD1E_ENST00000368164.3_Silent_p.F8F|CD1E_ENST00000368156.1_Silent_p.F8F|CD1E_ENST00000368165.3_Silent_p.F8F|CD1E_ENST00000368161.3_Silent_p.F8F|CD1E_ENST00000452291.2_Silent_p.F8F|CD1E_ENST00000368154.1_Silent_p.F8F|CD1E_ENST00000434258.1_Intron|CD1E_ENST00000368160.3_Silent_p.F8F|CD1E_ENST00000368166.3_Silent_p.F8F|CD1E_ENST00000368155.3_Silent_p.F8F	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	8					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.F8L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCCTCCTCTTCGAGGGTCTCT	0.522000													7	53					0	0	0.006214	0	0
DNAH2	146754	broad.mit.edu	37	17	7637788	7637788	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr17:7637788C>T	ENST00000572933.1	+	7	2200	c.739_splice	c.e7-1	p.T247_splice	DNAH2_ENST00000389173.2_Splice_Site_p.T247_splice|DNAH2_ENST00000082259.3_Splice_Site_p.T247_splice|DNAH2_ENST00000570791.1_Splice_Site_p.T247_splice			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	247	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCCCCTGCAGCCTCCATGATC	0.532000													8	50					0	0	0.003080	0	0
ZNF576	79177	broad.mit.edu	37	19	44103204	44103204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:44103204G>A	ENST00000336564.4	+	3	461	c.307G>A	c.(307-309)Gtt>Att	p.V103I	ZNF576_ENST00000533118.1_Missense_Mutation_p.V103I|ZNF576_ENST00000525771.1_Missense_Mutation_p.V103I|ZNF576_ENST00000529930.1_Missense_Mutation_p.V103I|ZNF576_ENST00000528387.1_Missense_Mutation_p.V103I|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000391965.2_Missense_Mutation_p.V103I|SRRM5_ENST00000607544.1_Intron	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				CACCCTGCCGGTTGCAACCAC	0.632000													10	116					0	0	0.008291	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423956	33423956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr6:33423956C>T	ENST00000395064.2	+	2	1347	c.1079C>T	c.(1078-1080)cCt>cTt	p.P360L		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	360	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GGTGGAGGACCTGGGGGAGCA	0.607000													6	40					0	0	0.001168	0	0
ROBO2	6092	broad.mit.edu	37	3	77684138	77684138	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr3:77684138G>A	ENST00000461745.1	+	24	4778	c.3878G>A	c.(3877-3879)gGa>gAa	p.G1293E	ROBO2_ENST00000332191.8_Missense_Mutation_p.G1354E|ROBO2_ENST00000487694.3_Missense_Mutation_p.G1309E	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1293					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAACACAAGGGAGGGCGGATG	0.507000													4	39					0	0	0.000248	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461342	5461342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:5461342C>T	ENST00000296564.7	+	13	2117	c.1895C>T	c.(1894-1896)tCc>tTc	p.S632F		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	632										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGTTTTTCTTCCTCTTCTACC	0.413000													13	70					0	0	0.001855	0	0
TAF1L	138474	broad.mit.edu	37	9	32631080	32631080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr9:32631080G>A	ENST00000242310.4	-	1	4587	c.4498C>T	c.(4498-4500)Ctt>Ttt	p.L1500F		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1500					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)		TTCTCTTTAAGTTTTTCATCA	0.408000													8	43					0	0	0.008291	0	0
PREX2	80243	broad.mit.edu	37	8	69033271	69033271	+	Silent	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:69033271G>A	ENST00000288368.4	+	30	3988	c.3711G>A	c.(3709-3711)agG>agA	p.R1237R		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	1237					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.R1237R(1)		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						AGAACATCAGGAAATTTGTTG	0.403000													3	23					0	0	0.004672	0	0
PHF20L1	51105	broad.mit.edu	37	8	133858053	133858053	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr8:133858053G>A	ENST00000395386.2	+	21	3238	c.2939G>A	c.(2938-2940)gGg>gAg	p.G980E	PHF20L1_ENST00000220847.7_Missense_Mutation_p.G367E|PHF20L1_ENST00000395390.2_Missense_Mutation_p.G955E	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	980							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GATTTCACAGGGGAGTTGGAG	0.408000													4	25					0	0	0.001168	0	0
POTEC	388468	broad.mit.edu	37	18	14511935	14511935	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr18:14511935C>T	ENST00000358970.5	-	11	1590	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	531										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCAATTTCTTCCTGCAACATG	0.358000													4	15					0	0	0.000248	0	0
FRAS1	80144	broad.mit.edu	37	4	79301095	79301095	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr4:79301095T>G	ENST00000264895.6	+	27	3948	c.3508T>G	c.(3508-3510)Tgg>Ggg	p.W1170G	FRAS1_ENST00000325942.6_Missense_Mutation_p.W1170G	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1169					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						CCGTTTTAGCTGGAAAGATGT	0.453000													7	39					0	0	0.003080	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456640	5456640	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr19:5456640C>G	ENST00000222033.4	+	1	1215	c.1138C>G	c.(1138-1140)Cgg>Ggg	p.R380G		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	380						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACCGGGCCACCGGCCCCCCAT	0.672000													7	65					0	0	0.001984	0	0
ADARB1	104	broad.mit.edu	37	21	46595747	46595747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr21:46595747G>A	ENST00000539173.1	+	4	566	c.131G>A	c.(130-132)gGg>gAg	p.G44E	ADARB1_ENST00000360697.3_Missense_Mutation_p.G44E|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000348831.4_Missense_Mutation_p.G44E|ADARB1_ENST00000389863.4_Missense_Mutation_p.G44E	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	44					adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CTCTCCAATGGGGGTGGTGGT	0.622000													23	152					0	0	0.002299	0	0
RBM10	8241	broad.mit.edu	37	X	47035967	47035967	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:47035967G>C	ENST00000377604.3	+	7	1387	c.645G>C	c.(643-645)gaG>gaC	p.E215D	RBM10_ENST00000329236.7_Missense_Mutation_p.E138D|RBM10_ENST00000345781.6_Missense_Mutation_p.E138D|RBM10_ENST00000468791.1_3'UTR	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	215					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AGATCAATGAGGACTGGCTGT	0.577000													17	82					0	0	0.006122	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216400	149216402	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr5:149216400_149216402delCAG	ENST00000309241.5	+	8	2414_2416	c.2382_2384delCAG	c.(2380-2385)gac>ga	p.DS794del	PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	794	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	p.S795N(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCTTTGAAGACAGCAGCAGCAGC	0.601													9	169	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100369720	100369721	+	RNA	INS	-	-	T			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr7:100369720_100369721insT	ENST00000542585.1	+	0	5573				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cctctaaattcttttttttttt	0.535													5	9	---	---	---	---					
PRDM12	59335	broad.mit.edu	37	9	133543701	133543702	+	Splice_Site	DEL	GT	GT	-			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr9:133543701_133543702delGT	ENST00000253008.2	+	3	630		c.e3+1			NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GGCCATTGAGGTGTGTGTGTGT	0.594													7	88	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75506612	75506612	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr10:75506612delC	ENST00000339365.2	+	3	184	c.22delC	c.(22-24)cafs	p.P9fs	SEC24C_ENST00000345254.4_Frame_Shift_Del_p.P9fs|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_5'UTR|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	9					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CCAGTCAGTTCCACCTGTGCC	0.498													16	87	---	---	---	---					
NUP98	4928	broad.mit.edu	37	11	3704526	3704527	+	In_Frame_Ins	INS	-	-	TGC			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr11:3704526_3704527insTGC	ENST00000324932.7	-	30	5241_5242	c.4821_4822insGCA	c.(4819-4824)gcacat>gcGCAacat	p.1607_1608AH>AQH	NUP98_ENST00000355260.3_In_Frame_Ins_p.1533_1534AH>AQH|NUP98_ENST00000359171.4_In_Frame_Ins_p.1533_1534AH>AQH	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1624					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GATTCCATGTGTGCTCGCACAG	0.515			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								9	66	---	---	---	---					
PTHLH	5744	broad.mit.edu	37	12	28122932	28122933	+	Translation_Start_Site	DEL	AT	AT	-			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr12:28122932_28122933delAT	ENST00000395868.3	-	0	47_48				PTHLH_ENST00000395872.1_Intron|PTHLH_ENST00000535992.1_Intron|PTHLH_ENST00000354417.3_Intron|PTHLH_ENST00000545234.1_Intron|PTHLH_ENST00000201015.4_Intron	NM_198964.1	NP_945315.1	P12272	PTHR_HUMAN	parathyroid hormone-like hormone						activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					CGAAACCCACATATATATACAT	0.500													23	215	---	---	---	---					
FAM155A	728215	broad.mit.edu	37	13	108518687	108518689	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chr13:108518687_108518689delCTG	ENST00000375915.2	-	1	394_396	c.256_258delCAG	c.(256-258)del	p.Q86del		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	86	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						gccgctgcctctgctgctgctgc	0.719													10	82	---	---	---	---					
SOX3	6658	broad.mit.edu	37	X	139586119	139586119	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2GL-06A-11D-A196-08	TCGA-EE-A2GL-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b649bf67-c74a-4bb9-924f-e3a6f19ba77e	0f475c0a-f244-42ac-b00e-e70f0b5e35a5	g.chrX:139586119delG	ENST00000370536.2	-	1	1106	c.1107delC	c.(1105-1107)ccfs	p.P369fs		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	369					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CCGAGCCCATGGGGCCCAGGC	0.751													8	34	---	---	---	---