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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NLRP12	91662	broad.mit.edu	37	19	54310827	54310827	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:54310827C>T	uc002qcj.4	-	3	2388	c.2168G>A	c.(2167-2169)cGa>cAa	p.R723Q	NLRP12_uc010eqw.3_5'UTR|NLRP12_uc002qch.4_Missense_Mutation_p.R722Q|NLRP12_uc002qci.4_Missense_Mutation_p.R722Q|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.R723Q	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	722					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.R722Q(2)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAGGGCATTTCGGTACAGAGA	0.582000														39			17		0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129149233	129149233	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:129149233C>T	uc022cdu.1	+	2	2529	c.2485C>T	c.(2485-2487)Ctg>Ttg	p.L829L	BCORL1_uc010nrd.1_Silent_p.L731L	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	829					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CACCCAGGTCCTGCCTGTTGG	0.602000														81			26		0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39544522	39544522	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr13:39544522G>A	uc001uwx.3	-	4	454	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	STOML3_uc010tez.2_Missense_Mutation_p.L97F	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.	106						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TCTCTGGTGAGGATCTGTGGA	0.458000														76			25		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36162748	36162748	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:36162748C>T	uc004ddk.1	+	10	1517	c.1331C>T	c.(1330-1332)tCa>tTa	p.S444L		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	444						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						gatatgccctcagtgtgggtt	0.468000														35			19		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45697426	45697426	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:45697426G>A	uc003tne.4	+	5	1267	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	ADCY1_uc003tnd.3_Missense_Mutation_p.D192N	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	417					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.D417D(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GTGGCAGTACGACGTGTGGTC	0.617000														23			8		0	0	1	0	0
WNT9A	7483	broad.mit.edu	37	1	228109337	228109337	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:228109337C>T	uc001hri.2	-	3	1068	c.980G>A	c.(979-981)gGc>gAc	p.G327D		NM_003395	NP_003386	O14904	WNT9A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA.	327					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent|signal transducer activity	p.R326P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TGTGTTATGGCCGCGGCCACA	0.657000														36			8		0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104297796	104297796	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:104297796A>G	uc004bbn.3	+	1	181	c.91A>G	c.(91-93)Aca>Gca	p.T31A		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	Homo sapiens ring finger protein 20 (RNF20), mRNA.	31					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TTCAGGGACCACAGTGGAAAC	0.453000														49			8		0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55448271	55448271	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:55448271G>A	uc001xbm.2	-	15	2140	c.2050C>T	c.(2050-2052)Ccc>Tcc	p.P684S	WDHD1_uc010aom.2_Missense_Mutation_p.P201S|WDHD1_uc001xbn.2_Missense_Mutation_p.P561S	NM_007086	NP_009017	O75717	WDHD1_HUMAN	Homo sapiens WD repeat and HMG-box DNA binding protein 1 (WDHD1), transcript variant 1, mRNA.	684						cytoplasm|nucleoplasm	DNA binding	p.P684S(2)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						AGTTGCTGGGGATTTTCATGG	0.368000														65			22		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200375	155200375	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:155200375T>C	uc021xge.1	-	22	3741	c.3464A>G	c.(3463-3465)gAc>gGc	p.D1155G	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.D1117G	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1155					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CATGGAGACGTCTGACAAAGA	0.423000														65			25		0	0	1	0	0
SET	6418	broad.mit.edu	37	9	131455163	131455163	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:131455163C>T	uc004bvt.4	+	4	675	c.434C>T	c.(433-435)cCt>cTt	p.P145L	SET_uc022bol.1_Missense_Mutation_p.P123L|SET_uc004bvu.4_Missense_Mutation_p.P132L|SET_uc011mbj.2_Missense_Mutation_p.P121L	NM_001122821	NP_001116293	Q01105	SET_HUMAN	Homo sapiens SET nuclear oncogene (SET), transcript variant 1, mRNA.	145					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		GATGAAAATCCTTACTTTGAA	0.333000			T	NUP214	AML									29			4		0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26917263	26917263	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:26917263C>T	uc001wqa.3	-	5	1846	c.1060G>A	c.(1060-1062)Gga>Aga	p.G354R	NOVA1_uc001wpy.3_Missense_Mutation_p.G476R|NOVA1_uc001wpz.3_Missense_Mutation_p.G452R	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	479	Ala-rich.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GCTGGTGTTCCAGTAATGGTT	0.448000														49			6		0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33388771	33388771	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:33388771T>C	uc003tdn.1	+	12	1934	c.1421T>C	c.(1420-1422)tTt>tCt	p.F474S	BBS9_uc003tdo.1_Missense_Mutation_p.F474S|BBS9_uc003tdp.1_Missense_Mutation_p.F474S|BBS9_uc003tdq.1_Missense_Mutation_p.F474S|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_5'UTR|BBS9_uc003tds.1_5'Flank|BBS9_uc011kao.1_Missense_Mutation_p.F352S	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	474					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			CAGTTCACCTTTGAATTTATG	0.333000									Bardet-Biedl syndrome					64			22		0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42083885	42083885	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:42083885A>G	uc002ore.4	+	1	494	c.398A>G	c.(397-399)cAg>cGg	p.Q133R	CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Missense_Mutation_p.Q133R	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	133						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CAGATTGAACAGGCATCTCAC	0.507000														64			25		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2162790	2162790	+	Splice_Site	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:2162790G>A	uc002cos.1	-	13	3370	c.3161_splice	c.e13+1	p.L1054_splice	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Splice_Site_p.L1054_splice	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1054	PKD 5.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTCACTCACAGGAAGGCCACC	0.682000														25			6		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120600896	120600896	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:120600896G>A	uc001txo.3	-	18	2029	c.2016C>T	c.(2014-2016)atC>atT	p.I672I		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	672					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGGGAGATGATCAGCATTT	0.607000														54			16		0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104570792	104570792	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:104570792G>A	uc001yop.2	+	7	990	c.905G>A	c.(904-906)gGg>gAg	p.G302E	ASPG_uc001yoo.2_Missense_Mutation_p.G330E|ASPG_uc001yoq.2_Missense_Mutation_p.G302E|ASPG_uc001yor.2_Missense_Mutation_p.G302E	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	302	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TGCCTCCAGGGGGCTGTGACC	0.667000														29			7		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107720127	107720127	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:107720127G>A	uc010ljo.1	-	14	1890	c.1806C>T	c.(1804-1806)ctC>ctT	p.L602L	LAMB4_uc003vey.2_Silent_p.L602L	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	602	Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CAGCCCCAGGGAGAACCCTGG	0.507000														51			15		0	0	1	0	0
C18orf1	753	broad.mit.edu	37	18	13621218	13621218	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:13621218C>T	uc002ksa.2	+	4	952	c.284C>T	c.(283-285)tCc>tTc	p.S95F	C18orf1_uc002ksb.2_Missense_Mutation_p.S95F|C18orf1_uc002kse.2_Missense_Mutation_p.S58F|C18orf1_uc002ksf.2_Missense_Mutation_p.S58F|C18orf1_uc002ksg.1_Missense_Mutation_p.S18F|C18orf1_uc002ksh.1_Missense_Mutation_p.S37F|C18orf1_uc002ksi.1_Missense_Mutation_p.S37F	NM_181481	NP_852146	O15165	CR001_HUMAN	Homo sapiens chromosome 18 open reading frame 1 (C18orf1), transcript variant a1, mRNA.	95						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				READ - Rectum adenocarcinoma(73;0.0642)		TCCACGCGGTCCTTCATCAAC	0.632000														69			13		0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127254563	127254563	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:127254563G>A	uc010lld.1	-	2	591	c.385C>T	c.(385-387)Cta>Tta	p.L129L	PAX4_uc003vmf.2_Silent_p.L127L|PAX4_uc003vmg.1_Silent_p.L129L|PAX4_uc003vmh.3_Silent_p.L127L	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	137	Paired.		R -> W (in diabetes mellitus type 2).		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						GTGCACGGTAGTCCCTGGTCC	0.547000														8			3		0	0	1	0	0
PPP1R1B	84152	broad.mit.edu	37	17	37786257	37786257	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:37786257G>A	uc002hrz.3	+	3	667	c.198G>A	c.(196-198)tcG>tcA	p.S66S	PPP1R1B_uc010cvx.3_Intron|PPP1R1B_uc002hsb.3_Silent_p.S30S|PPP1R1B_uc002hsc.3_Silent_p.S30S	NM_032192	NP_852606	Q9UD71	PPR1B_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1B (PPP1R1B), transcript variant 1, mRNA.	66					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATCTCAAGTCGAAGAGACCCA	0.597000														63			17		0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8009831	8009831	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:8009831C>T	uc003gko.3	-	14	1614	c.1471G>A	c.(1471-1473)Gac>Aac	p.D491N	ABLIM2_uc003gkk.3_Missense_Mutation_p.D155N|ABLIM2_uc003gkl.3_Missense_Mutation_p.D219N|ABLIM2_uc003gkm.4_Missense_Mutation_p.D439N|ABLIM2_uc003gkp.3_Missense_Mutation_p.D450N|ABLIM2_uc003gkq.3_Missense_Mutation_p.D491N|ABLIM2_uc003gkr.3_Missense_Mutation_p.D440N|ABLIM2_uc003gkj.4_Missense_Mutation_p.D525N|ABLIM2_uc003gks.3_Missense_Mutation_p.D451N	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	491					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	p.D525N(1)		NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGGTCTCTGTCGGTCCCGCTG	0.562000														112			35		0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121351010	121351010	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:121351010C>A	uc003eeh.4	-	12	1387	c.1262G>T	c.(1261-1263)gGg>gTg	p.G421V	HCLS1_uc011bjj.2_Missense_Mutation_p.G384V	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	421					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		agccccagccccagccGGGCA	0.542000														65			20		2.89027e-11	2.94289e-11	1	1	0
GPAA1	8733	broad.mit.edu	37	8	145138666	145138667	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:145138666_145138667CC>TT	uc003zax.3	+	3	526_527	c.416_417CC>TT	c.(415-417)gcc>gTT	p.A139V	GPAA1_uc003zav.1_Missense_Mutation_p.A17V|GPAA1_uc003zaw.1_Missense_Mutation_p.A79V	NM_003801	NP_003792	O43292	GPAA1_HUMAN	Homo sapiens glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast) (GPAA1), mRNA.	139					C-terminal protein lipidation|attachment of GPI anchor to protein|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGCGTGCTGCCAGCACCGAGT	0.653000														43			13		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087323	39087323	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:39087323C>T	uc011aej.1	-	2	190	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	KCNJ6_uc002ywo.2_Missense_Mutation_p.R46Q	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	46					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GGTCCGATCTCGGCTGATGTG	0.547000														95			31		0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011435	105011435	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:105011435C>T	uc004elz.1	+	10	2598	c.1842C>T	c.(1840-1842)atC>atT	p.I614I		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	614					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAATGCAAATCAGGCACTGTT	0.488000														79			24		0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132241685	132241685	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:132241685T>C	uc003eor.3	+	48	5752	c.5687T>C	c.(5686-5688)tTa>tCa	p.L1896S		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	1896							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CGAATTACGTTAATGAAATTT	0.328000														35			8		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210970866	210970866	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:210970866C>T	uc001hib.2	-	8	2069	c.1899G>A	c.(1897-1899)gaG>gaA	p.E633E	KCNH1_uc001hic.2_Silent_p.E606E	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	633					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGGCCACCACCTCATCATCTT	0.557000														67			56		0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45050851	45050851	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:45050851C>T	uc001zuf.2	+	4	1507	c.612C>T	c.(610-612)tcC>tcT	p.S204S	TRIM69_uc001zug.1_Silent_p.S204S|TRIM69_uc001zuh.1_Silent_p.S45S|TRIM69_uc001zui.1_5'UTR|TRIM69_uc010bdy.1_5'UTR	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA.	204					apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		AACATGTGTCCATGGAGTTTC	0.483000														42			16		0	0	1	0	0
SLC47A2	146802	broad.mit.edu	37	17	19611819	19611819	+	Splice_Site	SNP	C	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:19611819C>A	uc002gwe.4	-	7	707	c.532_splice	c.e7-1	p.G178_splice	SLC47A2_uc002gwg.4_Intron|SLC47A2_uc002gwf.4_Intron|SLC47A2_uc002gwh.4_Non-coding_Transcript|SLC47A2_uc002gwi.3_Intron|SLC47A2_uc010cqs.1_Intron|SLC47A2_uc010cqt.1_Intron	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	Homo sapiens solute carrier family 47, member 2 (SLC47A2), transcript variant 1, mRNA.	178						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					CTTCAGCCATCCCTGTTGAGG	0.567000														175			43		3.76604e-16	3.8446e-16	1	1	0
NNT	23530	broad.mit.edu	37	5	43613102	43613102	+	Silent	SNP	T	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:43613102T>C	uc003joe.3	+	2	499	c.244T>C	c.(244-246)Ttg>Ctg	p.L82L	NNT_uc003jof.3_Silent_p.L82L	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	82					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGTTCAGAACTTGGTCAAGCA	0.473000														156			50		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41668001	41668001	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:41668001G>A	uc002yyq.1	-	9	2615	c.2163C>T	c.(2161-2163)atC>atT	p.I721I	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	721	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATTTCCACACGATGGTAGGTA	0.428000														59			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542417	179542417	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:179542417C>T	uc021vsy.1	-	142	30715	c.30490G>A	c.(30490-30492)Gaa>Aaa	p.E10164K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6825K|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11091	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTCTTCTTCCTCAGGTACA	0.448000														80			45		0	0	1	0	0
MED8	112950	broad.mit.edu	37	1	43853204	43853204	+	Silent	SNP	C	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:43853204C>G	uc001cje.1	-	2	288	c.240G>C	c.(238-240)gtG>gtC	p.V80V	SZT2_uc001cjk.2_5'Flank|MED8_uc001cjg.4_Silent_p.V80V|MED8_uc001cjf.4_5'UTR|SZT2_uc001cjh.3_5'Flank|SZT2_uc001cji.1_5'Flank|SZT2_uc009vws.1_5'Flank	NM_052877	NP_443109	Q96G25	MED8_HUMAN	Homo sapiens mediator complex subunit 8 (MED8), transcript variant 3, mRNA.	80					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGGAGACAACACCAGAGGAA	0.423000														28			37		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197032094	197032094	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:197032094T>C	uc001gtt.1	-	1	202	c.158A>G	c.(157-159)aAa>aGa	p.K53R		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	53	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TGACAATTTTTTGTCTATGCT	0.393000														152			48		0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39159151	39159151	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:39159151G>A	uc003oon.3	-	4	1379	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	339					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						ACCAGGGAAGGGGGCAGTGCT	0.652000														64			12		0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	304399	304399	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:304399C>T	uc001qhz.3	-	13	2085	c.1421G>A	c.(1420-1422)tGg>tAg	p.W474*	SLC6A12_uc001qhy.3_Nonsense_Mutation_p.W30*|SLC6A12_uc001qia.3_Nonsense_Mutation_p.W474*|SLC6A12_uc001qib.3_Nonsense_Mutation_p.W474*|SLC6A12_uc009zdh.2_Nonsense_Mutation_p.W474*	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	474					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ACCATACACCCAGCTTATGCA	0.567000														119			34		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|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	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		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)				117			78		2.17451e-35	2.23151e-35	1	1	0
KLKB1	3818	broad.mit.edu	37	4	187172926	187172926	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:187172926C>T	uc003iyy.3	+	9	1126	c.1055C>T	c.(1054-1056)tCt>tTt	p.S352F	KLKB1_uc011clc.2_Missense_Mutation_p.S150F|KLKB1_uc011cld.2_Missense_Mutation_p.S314F	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	352	Apple 4.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTAAGATTATCTATGGATGGT	0.418000														116			32		0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40599815	40599815	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:40599815C>T	uc001zld.3	-	0	360	c.59G>A	c.(58-60)gGg>gAg	p.G20E	PLCB2_uc010bbo.3_Missense_Mutation_p.G20E|PLCB2_uc010ucm.2_Missense_Mutation_p.G20E|PLCB2_uc001zle.4_Missense_Mutation_p.G20E	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	20					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GAAGCGCTCCCCTTGGCTCAG	0.607000														32			10		0	0	1	0	0
BCAP31	10134	broad.mit.edu	37	X	152981046	152981046	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:152981046G>A	uc004fid.2	-	3	923	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	BCAP31_uc011myz.1_Missense_Mutation_p.R98C|BCAP31_uc011mza.1_Missense_Mutation_p.R98C|BCAP31_uc004fie.2_Missense_Mutation_p.R98C	NM_001139457	NP_005736	P51572	BAP31_HUMAN	Homo sapiens B-cell receptor-associated protein 31 (BCAP31), transcript variant 1, mRNA.	98		Cleavage; by caspase-8 (Potential).			cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	ER-Golgi intermediate compartment membrane|cytosol|endoplasmic reticulum membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGGGCACGGAAAAGCTTC	0.547000														72			43		0	0	1	0	0
SEC14L2	23541	broad.mit.edu	37	22	30812280	30812280	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:30812280G>A	uc003ahr.3	+	10	1145	c.969G>A	c.(967-969)aaG>aaA	p.K323K	SEC14L2_uc003ahq.3_Silent_p.K323K|SEC14L2_uc011aky.2_Silent_p.K240K|SEC14L2_uc011akx.2_Silent_p.K269K|SEC14L2_uc003ahs.3_Silent_p.K249K|SEC14L2_uc003aht.3_Non-coding_Transcript|SEC14L2_uc003ahu.3_Intron|SEC14L2_uc010gvv.3_Intron|SEC14L2_uc003ahv.1_Silent_p.K147K|SEC14L2_uc010gvx.1_Silent_p.K16K|SEC14L2_uc010gvy.1_Intron	NM_012429	NP_036561	O76054	S14L2_HUMAN	Homo sapiens SEC14-like 2 (S. cerevisiae) (SEC14L2), transcript variant 1, mRNA.	323	GOLD.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	TGAAGACCAAGATGGGAGAGA	0.537000														58			11		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167170817	167170817	+	Nonsense_Mutation	SNP	T	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:167170817T>A	uc003fes.1	-	5	972	c.901A>T	c.(901-903)Aaa>Taa	p.K301*	SERPINI2_uc003fer.1_Nonsense_Mutation_p.K291*|SERPINI2_uc003fet.1_Nonsense_Mutation_p.K291*	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	291					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TGTTCTACTTTAAATCTGTTA	0.299000														25			6		0	0	1	0	0
CMTM7	112616	broad.mit.edu	37	3	32490966	32490966	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:32490966C>T	uc003cey.1	+	2	590	c.354C>T	c.(352-354)atC>atT	p.I118I	CMTM7_uc003cez.1_Intron	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 7 (CMTM7), transcript variant 1, mRNA.	118	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(2)	4						ACTATTTAATCGGTACCCTGC	0.542000														102			26		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058878	79058878	+	Silent	SNP	C	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:79058878C>A	uc002bej.4	-	18	3586	c.3375G>T	c.(3373-3375)ctG>ctT	p.L1125L	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1125					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						ACCAAGGTCCCAGTACCCCCT	0.687000														15			4		0.150653	0.150653	1	1	0
SEC16A	9919	broad.mit.edu	37	9	139371256	139371256	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:139371256G>A	uc004chx.3	-	2	1121	c.812C>T	c.(811-813)cCc>cTc	p.P271L	SEC16A_uc004chv.4_5'Flank|SEC16A_uc004chw.3_Missense_Mutation_p.P271L|SEC16A_uc010nbn.3_Missense_Mutation_p.P271L|SEC16A_uc010nbo.1_Missense_Mutation_p.P271L	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	93					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGCTGCTGGGGGAGCCACCAG	0.597000														25			6		0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123334274	123334274	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:123334274G>A	uc004bkf.3	-	1	286	c.105C>T	c.(103-105)ccC>ccT	p.P35P	CDK5RAP2_uc004bkg.3_Silent_p.P35P|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Silent_p.P35P	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	35					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ACCCAGCATTGGGGTTGATGC	0.448000														43			26		0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77895176	77895176	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:77895176C>T	uc002lnw.3	+	3	2335	c.1880C>T	c.(1879-1881)cCc>cTc	p.P627L		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	627					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTGCCGGTTCCCCCTGGAGGC	0.617000														45			11		0	0	1	0	0
PNKD	25953	broad.mit.edu	37	2	219204780	219204780	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:219204780C>T	uc002vhn.3	+	3	525	c.381C>T	c.(379-381)ctC>ctT	p.L127L	PNKD_uc002vhq.3_Silent_p.L103L	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	127						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	p.V126V(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCTGTCCTCTCGGACAACT	0.647000														52			18		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15734639	15734639	+	Silent	SNP	C	T	T	rs139672715		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:15734639C>T	uc001rcv.2	+	22	3629	c.3159C>T	c.(3157-3159)ttC>ttT	p.F1053F	PTPRO_uc001rcw.2_Silent_p.F1025F|PTPRO_uc001rcx.2_Silent_p.F242F|PTPRO_uc001rcy.2_Silent_p.F242F|PTPRO_uc001rcz.2_Silent_p.F214F|PTPRO_uc001rda.2_Silent_p.F214F	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	1053	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ACTGGCCATTCACGGAAGAAC	0.433000														81			19		0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258271	9258271	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:9258271C>T	uc002knv.3	+	8	5270	c.5006C>T	c.(5005-5007)cCa>cTa	p.P1669L	ANKRD12_uc002knw.3_Missense_Mutation_p.P1646L|ANKRD12_uc002knx.3_Missense_Mutation_p.P1646L|ANKRD12_uc010dkx.1_Missense_Mutation_p.P1376L	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1669						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GAACAAGATCCAAAACATTGT	0.363000														35			14		0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51984797	51984797	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:51984797C>T	uc002pwv.1	+	3	734	c.734C>T	c.(733-735)tCc>tTc	p.S245F		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	245						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATGACAATTTCCCCAGACGGC	0.483000														59			8		0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189851	58189851	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:58189851G>A	uc002qpu.3	+	4	1577	c.880G>A	c.(880-882)Gga>Aga	p.G294R		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	294					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAGCAATGAGGGAAATTCCAC	0.473000														82			23		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124380618	124380618	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:124380618G>A	uc001lgk.1	+	40	5049	c.4943G>A	c.(4942-4944)aGg>aAg	p.R1648K	DMBT1_uc001lgl.1_Missense_Mutation_p.R1638K|DMBT1_uc001lgm.1_Missense_Mutation_p.R1020K|DMBT1_uc021qaf.1_Missense_Mutation_p.R1648K|DMBT1_uc021qag.1_Missense_Mutation_p.R1638K|DMBT1_uc021qah.1_Missense_Mutation_p.R1020K|DMBT1_uc009xzz.1_Missense_Mutation_p.R1648K|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.R351K|DMBT1_uc009yac.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1648	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGAGGTGACAGGTGTCGAGGC	0.532000														279			96		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118198921	118198921	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:118198921G>A	uc001two.2	-	3	849	c.794C>T	c.(793-795)tCc>tTc	p.S265F		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	294	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTTCGGGAGGAGGGCGGTGG	0.672000														131			26		0	0	1	0	0
NUB1	51667	broad.mit.edu	37	7	151072975	151072975	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:151072975C>T	uc003wjx.3	+	12	1525	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	NUB1_uc003wjw.3_Silent_p.S465S	NM_001243351	NP_001230280	Q9Y5A7	NUB1_HUMAN	Homo sapiens negative regulator of ubiquitin-like proteins 1 (NUB1), transcript variant 1, mRNA.	479	UBA 3.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TAAATGATTCCAATCCTGAAA	0.483000														163			40		0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922508	17922508	+	Silent	SNP	C	T	T	rs141805771		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:17922508C>T	uc002nhl.1	+	2	843	c.696C>T	c.(694-696)caC>caT	p.H232H	B3GNT3_uc010ebd.1_Silent_p.H232H|B3GNT3_uc010ebe.1_Silent_p.H232H	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	232					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CTGGCCGCCACCTCTTCGTGG	0.577000														62			26		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21713332	21713332	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:21713332C>T	uc001rfb.3	-	7	1412	c.1157G>A	c.(1156-1158)cGa>cAa	p.R386Q		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	386					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	p.R386Q(2)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CAGCTGTTTTCGCACTGCTTG	0.383000														106			33		0	0	1	0	0
ORAI2	80228	broad.mit.edu	37	7	102087295	102087295	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:102087295C>T	uc010lhz.1	+	3	796	c.561C>T	c.(559-561)ggC>ggT	p.G187G	ORAI2_uc003uzj.2_Silent_p.G187G|ORAI2_uc003uzk.2_Silent_p.G187G|ORAI2_uc011kks.1_Silent_p.G110G	NM_001126340	NP_116220	Q96SN7	ORAI2_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 2 (ORAI2), transcript variant 1, mRNA.	187						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CCCCACCTGGCCCTGGGAGTC	0.657000														67			13		0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72132628	72132628	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:72132628C>T	uc002fcb.3	+	4	1056	c.701C>T	c.(700-702)tCc>tTc	p.S234F	DHX38_uc010vmp.2_Intron|DHX38_uc010cgn.1_Non-coding_Transcript	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	234					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GAATCGCCCTCCCCGACGCCT	0.602000														39			8		0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25486139	25486139	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr13:25486139G>A	uc001upt.4	-	2	766	c.513C>T	c.(511-513)ctC>ctT	p.L171L	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	171					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GTTCTTCCATGAGTCTCTGTA	0.408000														84			24		0	0	1	0	0
RBM7	10179	broad.mit.edu	37	11	114276477	114276477	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:114276477C>T	uc001pow.3	+	3	407	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	RBM7_uc001pov.3_Nonsense_Mutation_p.Q132*|RBM7_uc001pox.3_Nonsense_Mutation_p.Q12*	NM_016090	NP_057174	Q9Y580	RBM7_HUMAN	Homo sapiens RNA binding motif protein 7 (RBM7), mRNA.	132					meiosis		RNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		ACAGATAATTCAGAGATCTTT	0.318000														50			8		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98388206	98388206	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:98388206C>T	uc001kmq.3	-	8	1548	c.1420G>A	c.(1420-1422)Gat>Aat	p.D474N	PIK3AP1_uc001kmo.3_Missense_Mutation_p.D73N|PIK3AP1_uc001kmp.3_Missense_Mutation_p.D296N	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	474						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GAGAAACCATCTCCAGGGATT	0.443000														169			50		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6956647	6956647	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:6956647G>A	uc002knm.3	-	55	8176	c.8082C>T	c.(8080-8082)ccC>ccT	p.P2694P	LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Silent_p.P147P|LAMA1_uc010wzj.2_Silent_p.P2170P	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2694					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAAAGCCCGGGGCTCTGGCA	0.567000														58			14		0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71948210	71948210	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:71948210C>T	uc001osf.3	+	25	3069	c.2922C>T	c.(2920-2922)gcC>gcT	p.A974A	INPPL1_uc001osg.3_Silent_p.A732A	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	974	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGGTGGCGGCCCCCCCACCCA	0.637000														102			33		0	0	1	0	0
C1QBP	708	broad.mit.edu	37	17	5338248	5338248	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:5338248G>A	uc002gby.1	-	2	500	c.422C>T	c.(421-423)cCa>cTa	p.P141L		NM_001212	NP_001203	Q07021	C1QBP_HUMAN	Homo sapiens complement component 1, q subcomponent binding protein (C1QBP), nuclear gene encoding mitochondrial protein, mRNA.	141					blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane				lung(2)|ovary(1)	3						ATCAAATGTTGGTGGGATGCT	0.453000														69			23		0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119736678	119736678	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:119736678G>A	uc003ici.4	-	4	873	c.601C>T	c.(601-603)Cct>Tct	p.P201S	SEC24D_uc003icj.4_Missense_Mutation_p.P201S|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript|SEC24D_uc011cgg.1_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	201	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GCATTTGGAGGAGGAGGCCCA	0.597000														61			19		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101593579	101593579	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:101593579C>T	uc002bwr.3	+	25	4327	c.4008C>T	c.(4006-4008)ctC>ctT	p.L1336L	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1336	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCTGGAGCTCGCGCCGCTCA	0.721000														36			4		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26219534	26219534	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:26219534G>A	uc003abz.1	+	12	2834	c.2584G>A	c.(2584-2586)Gag>Aag	p.E862K	MYO18B_uc003aca.1_Missense_Mutation_p.E743K|MYO18B_uc010guy.1_Missense_Mutation_p.E743K|MYO18B_uc010guz.1_Missense_Mutation_p.E743K|MYO18B_uc011aka.1_Missense_Mutation_p.E16K|MYO18B_uc011akb.1_Missense_Mutation_p.E375K	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	862	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin 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						CCTGGGCTGCGAGTATGAGGA	0.582000														131			42		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361387	70361387	+	Missense_Mutation	SNP	C	T	T	rs140509960		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:70361387C>T	uc003hek.4	-	0	240	c.193G>A	c.(193-195)Gat>Aat	p.D65N	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.D65N	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	65					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.D65N(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CTGTTGGGATCGAAAGAAATG	0.398000														107			40		0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5969157	5969157	+	RNA	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:5969157C>T	uc003git.2	-	4		c.1739G>A						Q6ZRC1	CD050_HUMAN	Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772.											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						AAGCTGCCGTCATCTCAGACT	0.527000														78			28		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87680300	87680300	+	Nonsense_Mutation	SNP	A	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:87680300A>C	uc003ydx.3	-	4	638	c.590T>G	c.(589-591)tTa>tGa	p.L197*	CNGB3_uc010maj.3_Nonsense_Mutation_p.L59*	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	197					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GTACTCTGTTAAAGGCATCTT	0.413000														121			82		0	0	1	0	0
PDLIM4	8572	broad.mit.edu	37	5	131607149	131607149	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:131607149C>T	uc003kwo.3	+	4	737	c.660C>T	c.(658-660)gcC>gcT	p.A220A	BC030525_uc003kwm.4_Intron|PDLIM4_uc003kwn.3_Silent_p.A220A|PDLIM4_uc003kwp.3_Silent_p.A220A	NM_003687	NP_003678	P50479	PDLI4_HUMAN	Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA.	220							protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCTAGAGGCCGGCGAGGGCG	0.692000														25			11		0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8839939	8839939	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:8839939C>T	uc002czc.4	+	2	318	c.152C>T	c.(151-153)cCa>cTa	p.P51L	ABAT_uc002czd.4_Missense_Mutation_p.P51L|ABAT_uc010buh.3_Intron|ABAT_uc010bui.3_Missense_Mutation_p.P51L	NM_020686	NP_065737	P80404	GABT_HUMAN	Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	51					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ACGGAAGTCCCAGGGCCTAGA	0.483000														38			13		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15376337	15376337	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:15376337G>A	uc002nar.3	-	4	899	c.677C>T	c.(676-678)cCt>cTt	p.P226L	BRD4_uc002nas.3_Missense_Mutation_p.P226L|BRD4_uc002nat.3_Missense_Mutation_p.P226L|BRD4_uc002nau.4_Missense_Mutation_p.P226L	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	226					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGTGACGGCAGGGAAGGGGTG	0.657000			T	C15orf55	lethal midline carcinoma of young people									122			32		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066348	73066348	+	RNA	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:73066348G>A	uc004ebm.1	-	0		c.6241C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		ATTGCAAAAGGGGTCGGAGAG	0.453000														83			34		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	152007158	152007158	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:152007158T>A	uc003wla.3	-	5	961	c.742A>T	c.(742-744)Act>Tct	p.T248S		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	248					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCCCAACAAGTGCCTAAAATG	0.373000			N		medulloblastoma									34			7		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39880262	39880262	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:39880262G>A	uc001zkh.3	+	8	1493	c.1314G>A	c.(1312-1314)tgG>tgA	p.W438*	THBS1_uc010bbi.3_5'Flank	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	438	TSP type-1 2.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ATGGTGGCTGGAGCCACTGGT	0.522000														82			20		0	0	1	0	0
TMED3	23423	broad.mit.edu	37	15	79614547	79614547	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:79614547C>T	uc002beu.3	+	2	746	c.645C>T	c.(643-645)gtC>gtT	p.V215V	TMED3_uc010unj.1_Intron|TMED3_uc002bev.3_Non-coding_Transcript	NM_007364	NP_031390	Q9Y3Q3	TMED3_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 3 (TMED3), mRNA.	215					protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane				large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						GCAGGGCAGTCCACTCCTAGC	0.607000														76			14		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70048755	70048755	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:70048755C>T	uc001svg.3	-	9	2166	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.E434K|BEST3_uc010stm.2_Missense_Mutation_p.E541K	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	647						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCCAGGTTTTCCATTAAATAC	0.448000														41			8		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175365849	175365849	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:175365849G>A	uc001gkp.1	-	2	1152	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	TNR_uc009wwu.1_Silent_p.I357I|TNR_uc010pmz.1_Intron	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	357	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCTGGTAAGAGATCACATATT	0.622000														55			47		0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124266338	124266338	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:124266338G>A	uc010saj.2	-	0	910	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATTTTAATCAGAGCTTTCCTC	0.328000														92			25		0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10551263	10551263	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:10551263A>G	uc002czw.3	+	5	1388	c.1229A>G	c.(1228-1230)aAt>aGt	p.N410S	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.N410S|ATF7IP2_uc002czv.3_Missense_Mutation_p.N410S|ATF7IP2_uc010uyo.2_Intron|ATF7IP2_uc010uyq.2_Intron	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TTGGATAAGAATCTTGAGTCA	0.318000														83			33		0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6421437	6421437	+	Silent	SNP	C	T	T	rs146528945	byFrequency	TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:6421437C>T	uc001qnr.3	+	1	193	c.45C>T	c.(43-45)ctC>ctT	p.L15L	PLEKHG6_uc001qns.3_Silent_p.L15L|PLEKHG6_uc010sew.2_Silent_p.L15L|PLEKHG6_uc010sex.2_5'Flank	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	15					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TCCAAGGACTCGTGGCCTCCC	0.587000														76			20		0	0	1	0	0
KAZALD1	81621	broad.mit.edu	37	10	102822604	102822604	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:102822604C>T	uc001ksr.3	+	1	1180	c.255C>T	c.(253-255)ctC>ctT	p.L85L	KAZALD1_uc001kss.4_Non-coding_Transcript|KAZALD1_uc001kst.1_Silent_p.L85L	NM_030929	NP_112191	Q96I82	KAZD1_HUMAN	Homo sapiens Kazal-type serine peptidase inhibitor domain 1 (KAZALD1), mRNA.	85	IGFBP N-terminal.				cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding			endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		GCGCCAACCTCGAGGGCCAGC	0.736000														23			8		0	0	1	0	0
IL1A	3552	broad.mit.edu	37	2	113537239	113537239	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:113537239G>A	uc002tig.3	-	4	1284	c.324C>T	c.(322-324)atC>atT	p.I108I		NM_000575	NP_000566	P01583	IL1A_HUMAN	Homo sapiens interleukin 1, alpha (IL1A), mRNA.	108					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	p.E107E(1)		breast(2)|large_intestine(1)|lung(9)	12						TAGGCTTGATGATTTCTAAAA	0.388000														86			22		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23874460	23874460	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:23874460G>A	uc001wjv.3	-	4	545	c.474C>T	c.(472-474)tcC>tcT	p.S158S	MYH6_uc010akp.2_Silent_p.S158S	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	158	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGGCGTTGTCGGAGATGGAGA	0.622000														129			59		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21712622	21712622	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:21712622C>T	uc001rfb.3	-	8	1447	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	398					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	p.K397N(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCAAACTTTTCCTTCACAGAA	0.294000														25			7		0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79312443	79312443	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:79312443C>T	uc002beq.3	-	10	1921	c.1546G>A	c.(1546-1548)Gga>Aga	p.G516R	RASGRF1_uc002bep.3_Missense_Mutation_p.G516R|RASGRF1_uc010blm.1_Missense_Mutation_p.G438R|RASGRF1_uc002ber.4_Missense_Mutation_p.G516R|RASGRF1_uc010unh.1_5'Flank	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	516	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GATATGACTCCATTCTGAAAA	0.502000														84			23		0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8994415	8994415	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:8994415T>A	uc002czl.2	-	20	2480	c.2281A>T	c.(2281-2283)Atg>Ttg	p.M761L	USP7_uc010uyk.1_Missense_Mutation_p.M662L|USP7_uc010uyj.1_Missense_Mutation_p.M662L|USP7_uc002czk.2_Missense_Mutation_p.M745L	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	761	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCACCATCCATTAGTTCATCA	0.323000														69			7		0	0	1	0	0
LECT2	3950	broad.mit.edu	37	5	135286927	135286927	+	Nonsense_Mutation	SNP	G	A	A	rs138618187		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:135286927G>A	uc003lbe.1	-	2	475	c.274C>T	c.(274-276)Cga>Tga	p.R92*	FBXL21_uc003lbc.3_Non-coding_Transcript	NM_002302	NP_002293	O14960	LECT2_HUMAN	Homo sapiens leukocyte cell-derived chemotaxin 2 (LECT2), mRNA.	92					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGATATTCGAACACCATTA	0.443000														39			17		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141758083	141758083	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:141758083G>A	uc003vwy.3	+	30	3828	c.3774G>A	c.(3772-3774)gaG>gaA	p.E1258E		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1258	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGACTCTGAGATCGCCAGCT	0.488000														208			60		0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52905945	52905945	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:52905945G>A	uc003pbh.2	-	2	580	c.90C>T	c.(88-90)atC>atT	p.I30I	ICK_uc003pbi.2_Silent_p.I30I|ICK_uc003pbj.3_Silent_p.I30I	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	30	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TTTTAATAGCGATCAGCTCCC	0.473000														105			38		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432091	140432091	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:140432091G>A	uc003lik.1	+	0	1113	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	346	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATCCTCCCGAAGTGATGGT	0.517000														79			37		0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567300	223567300	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:223567300C>T	uc001hoa.2	+	0	586	c.483C>T	c.(481-483)ttC>ttT	p.F161F		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	161										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GTGGCACATTCAGGGTAGAAA	0.667000														11			13		0	0	1	0	0
LMO3	55885	broad.mit.edu	37	12	16713473	16713473	+	Splice_Site	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:16713473C>T	uc010shz.2	-	5	498	c.273_splice	c.e5-1	p.W91_splice	LMO3_uc001rdj.2_Splice_Site_p.R80_splice|LMO3_uc010shy.2_Splice_Site_p.R87_splice|LMO3_uc001rdk.2_Splice_Site_p.R69_splice|LMO3_uc001rdl.2_Splice_Site_p.R69_splice|LMO3_uc009zii.2_Splice_Site|LMO3_uc001rdn.2_Splice_Site_p.R69_splice|LMO3_uc001rdm.2_Splice_Site_p.R69_splice|LMO3_uc009zij.2_Splice_Site|LMO3_uc001rdo.2_Splice_Site|LMO3_uc001rdp.2_Splice_Site|LMO3_uc009zik.2_Splice_Site	NM_001243613	NP_001230542	Q8TAP4	LMO3_HUMAN	Homo sapiens LIM domain only 3 (rhombotin-like 2) (LMO3), transcript variant 7, mRNA.	69	LIM zinc-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				ACCAAAGAGCCTAGAATAAGA	0.408000														30			10		0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96971721	96971721	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:96971721G>A	uc001kke.3	+	5	967	c.842G>A	c.(841-843)gGa>gAa	p.G281E	C10orf129_uc009xuu.1_Missense_Mutation_p.G191E	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	281					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GCTGTCTTGGGAACTTGGTTC	0.483000														60			18		0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158299161	158299162	+	Splice_Site	DNP	CC	TT	TT			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:158299161_158299162CC>TT	uc001frx.3	-	4	994	c.886_splice	c.e4+1	p.R296_splice	CD1B_uc001frw.3_Intron	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	296					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.W295L(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ATTTCTTACTCCAGTAGAGGAT	0.554000														52			15		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79366792	79366792	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:79366792C>T	uc003hlb.2	+	41	6222	c.5782C>T	c.(5782-5784)Cat>Tat	p.H1928Y	FRAS1_uc003hkw.3_Missense_Mutation_p.H1928Y|FRAS1_uc010ijj.2_Missense_Mutation_p.H348Y	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1927					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						TGAGCCAACCCATGATATTTT	0.388000														188			41		0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134047120	134047120	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:134047120G>A	uc001qhd.1	-	22	3621	c.3015C>T	c.(3013-3015)ctC>ctT	p.L1005L	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	1005					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GCACCTGCAAGAGATTGGTAA	0.458000														57			21		0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56890672	56890672	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:56890672G>A	uc003hbi.3	+	24	3560	c.3326G>A	c.(3325-3327)cGa>cAa	p.R1109Q	CEP135_uc003hbj.3_Missense_Mutation_p.R815Q	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	1109					G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion	centriole|cytosol	protein C-terminus binding	p.R1109L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AACAGAGAACGAGCAATCCAA	0.378000														199			57		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141232749	141232749	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:141232749G>A	uc002tvj.1	-	59	10555	c.9583C>T	c.(9583-9585)Cac>Tac	p.H3195Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3195					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATTCAATGTGATTTTCATCG	0.338000										TSP Lung(27;0.18)				71			27		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38810498	38810498	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:38810498G>A	uc021yzh.1	+	34	4773	c.4664G>A	c.(4663-4665)aGa>aAa	p.R1555K	DNAH8_uc003ooe.2_Missense_Mutation_p.R1338K	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTCAAAAAGAGAATTGATGAT	0.378000														73			30		0	0	1	0	0
AV4S1	0	broad.mit.edu	37	14	22671075	22671075	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:22671075C>T	uc021rpv.1	+	1	130	c.95C>T	c.(94-96)aCt>aTt	p.T32I	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc010ajm.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 26, partial cds, clone: SEB 320.																		ATCAGTGGAACTGATTACATA	0.463000														54			12		0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151271999	151271999	+	Splice_Site	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:151271999G>A	uc003lut.3	-	2	344	c.57_splice	c.e2-1	p.S19_splice	GLRA1_uc003lur.3_Splice_Site_p.S19_splice|GLRA1_uc003lus.3_Intron	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	19					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAGCAGCAAGGCTAAGGAGGA	0.512000														42			10		0	0	1	0	0
ATP6AP1L	92270	broad.mit.edu	37	5	81608652	81608652	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:81608652C>T	uc003khv.3	+	8	1679	c.354C>T	c.(352-354)gtC>gtT	p.V118V	ATP6AP1L_uc003khw.3_Silent_p.V118V	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1-like (ATP6AP1L), mRNA.	118					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TGTGGGAGGTCACTTTTATTG	0.507000											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		58			21		0	0	1	0	0
BEST2	54831	broad.mit.edu	37	19	12866708	12866708	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:12866708G>A	uc002mux.3	+	6	907	c.907G>A	c.(907-909)Gat>Aat	p.D303N		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	Homo sapiens bestrophin 2 (BEST2), mRNA.	303					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						AGAGGACGATGATGACTTTGA	0.557000														65			26		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29519898	29519898	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:29519898C>A	uc002rmy.3	-	8	2625	c.1673G>T	c.(1672-1674)gGa>gTa	p.G558V		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	558	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.R557C(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCTCAAGACTCCACGAATGAG	0.537000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					60			15		1.15088e-07	1.16426e-07	1	1	0
ZNF682	91120	broad.mit.edu	37	19	20117516	20117516	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:20117516G>A	uc002noq.3	-	3	918	c.795C>T	c.(793-795)gcC>gcT	p.A265A	ZNF682_uc002noo.3_Silent_p.A233A|ZNF682_uc002nop.3_Silent_p.A233A|ZNF682_uc010eck.3_Silent_p.A189A	NM_033196	NP_001070817	O95780	ZN682_HUMAN	Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA.	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						ACCAGTGAAAGGCTTTTCCAC	0.408000														82			22		0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89885593	89885593	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:89885593G>A	uc001pdf.4	+	5	846	c.737G>A	c.(736-738)gGa>gAa	p.G246E	NAALAD2_uc009yvx.3_Missense_Mutation_p.G246E|NAALAD2_uc009yvy.3_Missense_Mutation_p.G246E|NAALAD2_uc001pdd.2_Missense_Mutation_p.G246E|NAALAD2_uc001pde.3_Missense_Mutation_p.G246E	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	246					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GCCCAGAGAGGAAATGTGTTA	0.453000														50			14		0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56390483	56390484	+	Splice_Site	DNP	GG	AT	AT			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:56390483_56390484GG>AT	uc002lhm.1	+	10	1480	c.1222_splice	c.e10+1	p.G408_splice	MALT1_uc002lhn.1_Splice_Site_p.G397_splice	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	408	Caspase-like.				T cell receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|protein oligomerization|proteolysis	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GGGAGTATATGGTAAGATATTT	0.307000			T	BIRC3	MALT									39			7		0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9943610	9943610	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:9943610C>T	uc003gmc.3	-	5	802	c.741G>A	c.(739-741)ctG>ctA	p.L247L	SLC2A9_uc003gmd.3_Silent_p.L218L	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	247					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						AGGGAAGGCTCAGCAGCTGGA	0.582000														27			12		0	0	1	0	0
ZBTB44	29068	broad.mit.edu	37	11	130108498	130108498	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:130108498C>T	uc001qga.3	-	3	1502	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	ZBTB44_uc001qgb.4_Missense_Mutation_p.E370K|ZBTB44_uc001qfx.3_Non-coding_Transcript|ZBTB44_uc001qfz.3_Missense_Mutation_p.E370K	NM_014155	NP_054874	Q8NCP5	ZBT44_HUMAN	Homo sapiens zinc finger and BTB domain containing 44 (ZBTB44), mRNA.	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TGAACATTTTCCAATCTAAAA	0.393000														28			5		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597327	136597327	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:136597327C>T	uc003qgx.1	-	4	1589	c.1336G>A	c.(1336-1338)Ggc>Agc	p.G446S	BCLAF1_uc003qgy.1_Missense_Mutation_p.G444S|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.G444S|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	446					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTCTATTGCCTTTCAGTGAA	0.393000														206			10		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716798	142716798	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:142716798G>A	uc022cfm.1	-	0	2127	c.2127C>T	c.(2125-2127)ttC>ttT	p.F709F	SLITRK4_uc022cfl.1_Silent_p.F709F|SLITRK4_uc004fbx.3_Silent_p.F709F|SLITRK4_uc004fby.3_Silent_p.F709F	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	709						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAAAACATGAACCCAGTTT	0.408000														87			42		0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58121520	58121520	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:58121520A>T	uc001spq.3	-	15	2801	c.2801T>A	c.(2800-2802)aTc>aAc	p.I934N	AGAP2_uc001spp.3_Missense_Mutation_p.I933N|AGAP2_uc001spr.3_Missense_Mutation_p.I578N|LOC100130776_uc001sps.4_Missense_Mutation_p.M249L	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	934	Arf-GAP.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GATCGCCTGGATGGCCACGGC	0.627000														26			3		0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20141445	20141445	+	Splice_Site	SNP	A	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:20141445A>T	uc003cbq.3	+	4	1115	c.669_splice	c.e4+1	p.Q223_splice		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	223					N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AGCATTGAACaggtaaaaaga	0.378000														44			10		0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40519997	40519997	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:40519997G>A	uc002oms.2	+	6	1076	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	ZNF546_uc002omt.2_Missense_Mutation_p.E248K	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAGACCCTATGAATGTAAAGA	0.438000														118			36		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34401533	34401533	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:34401533C>T	uc001bxm.1	-	3	717	c.540G>A	c.(538-540)ggG>ggA	p.G180G	CSMD2_uc001bxn.1_Silent_p.G140G	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	140	Sushi 1.					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)				TCCCTGGGTTCCCACATGTGT	0.597000														57			17		0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38643619	38643619	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:38643619G>A	uc010cxb.3	-	3	1121	c.957C>T	c.(955-957)agC>agT	p.S319S		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	319	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CTGAGCCAAGGCTGTGGAGGC	0.587000														43			15		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140734937	140734937	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:140734937G>A	uc003ljq.2	+	0	170	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.R57Q	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	57	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCGCCCCGGGAGCTGGCG	0.632000														84			28		0	0	1	0	0
IP6K2	51447	broad.mit.edu	37	3	48730484	48730485	+	Silent	DNP	GG	AA	AA			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:48730484_48730485GG>AA	uc003cuq.3	-	2	791_792	c.330_331CC>TT	c.(328-333)ctccta>ctTTta	p.110_111LL>LL	IP6K2_uc003cup.3_Silent_p.110_111LL>LL	NM_016291	NP_057375	Q9UHH9	IP6K2_HUMAN	Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 1, mRNA.	110					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						GTCCACCTTAGGAGCTTACTTT	0.411000														199			60		0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103029537	103029537	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:103029537A>C	uc003vbz.3	-	13	1694	c.1432T>G	c.(1432-1434)Tcc>Gcc	p.S478A	SLC26A5_uc003vbt.2_Missense_Mutation_p.S478A|SLC26A5_uc003vbu.2_Missense_Mutation_p.S478A|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.S446A	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	478					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AACAAGGAGGACACAAAAGTG	0.443000														38			6		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423937	56423937	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:56423937C>T	uc010ygg.2	-	4	1271	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	416	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AAGAGAGTTTCGTTTTTTCTT	0.463000														67			22		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94139696	94139696	+	Splice_Site	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:94139696G>A	uc001ybv.1	+	40	6372	c.6289_splice	c.e40-1	p.E2097_splice	UNC79_uc001ybs.1_Splice_Site_p.E2075_splice	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2252						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTTTTCTTTAGGAACGAGATA	0.358000														56			24		0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165353893	165353893	+	Silent	SNP	G	A	A	rs147507583	byFrequency	TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:165353893G>A	uc002ucl.3	-	9	1753	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	GRB14_uc010zcv.2_Silent_p.L317L	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	404					blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CCCTCCAAGCGAGTCCTTCTT	0.408000														125			29		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112654696	112654696	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:112654696G>A	uc021reb.1	-	46	7260	c.6864C>T	c.(6862-6864)atC>atT	p.I2288I	C12orf51_uc001ttr.1_Silent_p.I175I	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.									p.I2000I(1)|p.I2250I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CATAGGAAACGATTTCAATTT	0.493000														77			21		0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886368	123886368	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:123886368C>T	uc010sac.2	+	0	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTGGAATCTTCCTGGTGGTTT	0.567000														69			30		0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325379	9325379	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:9325379G>A	uc002mla.2	-	0	169	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CGGCCAGAATGATGAGCAGGT	0.552000														114			25		0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5905798	5905798	+	Silent	SNP	A	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:5905798A>G	uc010qzs.2	+	0	276	c.276A>G	c.(274-276)caA>caG	p.Q92Q	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAACCTCCAAGAGATCAGCT	0.463000														104			26		0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18675954	18675954	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:18675954C>T	uc002gul.3	+	10	2555	c.2323C>T	c.(2323-2325)Ccc>Tcc	p.P775S	FBXW10_uc002guj.3_Missense_Mutation_p.P746S|FBXW10_uc002guk.3_Missense_Mutation_p.P746S|FBXW10_uc010cqh.2_Missense_Mutation_p.P693S	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	746										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AGGCAAACCTCCCAAGTCCCG	0.468000														161			45		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10755495	10755495	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:10755495G>A	uc003wtk.1	-	2	1920	c.1893C>T	c.(1891-1893)ctC>ctT	p.L631L		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	631						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GCAACTCATAGAGGAGTGGTC	0.453000														69			49		0	0	1	0	0
C15orf44	81556	broad.mit.edu	37	15	65877212	65877212	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:65877212G>A	uc010uix.2	-	9	1631	c.1243C>T	c.(1243-1245)Cct>Tct	p.P415S	C15orf44_uc002apd.3_Missense_Mutation_p.P379S|C15orf44_uc010uja.2_Missense_Mutation_p.P361S|C15orf44_uc010ujb.2_Missense_Mutation_p.P322S|C15orf44_uc002ape.4_Missense_Mutation_p.P379S|C15orf44_uc010uiy.2_Missense_Mutation_p.P300S|C15orf44_uc010uiz.2_Missense_Mutation_p.P343S			Q96SY0	CO044_HUMAN	Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA.	379										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						TCGCCATAAGGGTTTTCTTTA	0.413000														25			8		0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102791117	102791117	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:102791117C>T	uc002tbq.3	+	9	1380	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	IL1R1_uc010fix.3_Silent_p.F354F|IL1R1_uc002tbr.3_Silent_p.F354F	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	354					innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GTTCTGTTTTCATCTATAAAA	0.323000														49			20		0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101606459	101606459	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:101606459G>A	uc003knm.3	-	2	958	c.671C>T	c.(670-672)tCa>tTa	p.S224L		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	224					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTTAGAAAGTGAAGAAGTTGA	0.363000														34			20		0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	A	A	rs2821609	by1000genomes	TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:14414902G>A	uc002yiy.3	+	1		c.339G>A			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		CCAGCTTGACGTCCTTGATGG	0.443000														41			8		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55953799	55953799	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:55953799G>A	uc003has.3	-	26	3939	c.3637C>T	c.(3637-3639)Cat>Tat	p.H1213Y	KDR_uc003hat.1_Missense_Mutation_p.H1213Y	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1213					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTGTCATAATGGAATTTGGGG	0.507000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				51			12		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113148336	113148337	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:113148336_113148337GG>AA	uc010mtz.3	-	42	10415_10416	c.10078_10079CC>TT	c.(10078-10080)cct>TTt	p.P3360F	SVEP1_uc010mty.3_Missense_Mutation_p.P1286F	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3360	Sushi 33.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.C3360F(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AATCACAAAAGGAACAGGGCAT	0.406000														82			15		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66938086	66938086	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:66938086G>A	uc002jhq.3	-	2	430	c.90C>T	c.(88-90)tcC>tcT	p.S30S	ABCA8_uc002jhp.3_Silent_p.S30S|ABCA8_uc010wqq.2_Silent_p.S30S|ABCA8_uc010wqr.2_Intron|ABCA8_uc002jhr.3_Silent_p.S30S|ABCA8_uc002jhs.3_Silent_p.S30S|ABCA8_uc002jht.3_Silent_p.S30S	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	30						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ATACCATTAAGGACTCTCTTT	0.378000														46			16		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25708118	25708118	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:25708118C>T	uc003xes.2	-	14	1953	c.1688G>A	c.(1687-1689)gGa>gAa	p.G563E	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	563					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.G563R(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		ACCTCTGAATCCATTTCCATT	0.488000														157			26		0	0	1	0	0
SUCLG1	8802	broad.mit.edu	37	2	84668385	84668385	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:84668385G>A	uc002son.3	-	3	710	c.517C>T	c.(517-519)Cct>Tct	p.P173S	SUCLG1_uc010ysk.1_Missense_Mutation_p.P160S	NM_003849	NP_003840	P53597	SUCA_HUMAN	Homo sapiens succinate-CoA ligase, alpha subunit (SUCLG1), nuclear gene encoding mitochondrial protein, mRNA.	173					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	ATGACTCCAGGGCAGTTGGGC	0.458000														82			22		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64617578	64617578	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:64617578T>G	uc003dmg.3	-	14	2231	c.2199A>C	c.(2197-2199)ttA>ttC	p.L733F	ADAMTS9_uc011bfo.2_Missense_Mutation_p.L705F|ADAMTS9_uc003dmh.1_Missense_Mutation_p.L562F|ADAMTS9_uc003dmk.1_Missense_Mutation_p.L733F	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	733	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V732L(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTTTTGAGTTTAAAACATGAT	0.323000														51			24		0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89607329	89607329	+	Silent	SNP	T	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:89607329T>G	uc001dna.2	-	8	1507	c.1368A>C	c.(1366-1368)gcA>gcC	p.A456A	GBP2_uc001dmy.1_Intron	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	456						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GGACCTCGTCTGCCTGAAGAA	0.483000														61			20		0	0	1	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150128401	150128401	+	Splice_Site	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:150128401G>A	uc001ett.3	+	3	596	c.318_splice	c.e3+1	p.T106_splice	PLEKHO1_uc001ets.3_Splice_Site|PLEKHO1_uc001etu.3_Splice_Site|PLEKHO1_uc021oyc.1_5'Flank	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA.	106	PH.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGGTAACACGGTATGTTTCTC	0.522000														45			32		0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99365994	99365994	+	Missense_Mutation	SNP	G	A	A	rs55901263		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:99365994G>A	uc003urv.2	-	6	760	c.653C>T	c.(652-654)cCa>cTa	p.P218L	CYP3A4_uc003urw.2_Missense_Mutation_p.P218L|CYP3A4_uc011kiz.2_Missense_Mutation_p.P177L	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	218			P -> R (in allele CYP3A4*5; dbSNP:rs55901263).		alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	GAGAAAGAATGGATCCAAAAA	0.333000														66			18		0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49851137	49851137	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:49851137C>T	uc004dos.1	+	7	1205	c.957C>T	c.(955-957)ctC>ctT	p.L319L	CLCN5_uc004dor.1_Silent_p.L389L|CLCN5_uc004doq.1_Silent_p.L389L|CLCN5_uc004dot.1_Silent_p.L319L	NM_000084	NP_000075	P51795	CLCN5_HUMAN	Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA.	319					excretion	Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane	ATP binding|antiporter activity	p.L319L(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TCTTTGAGCTCGTGCCATTCA	0.512000														54			18		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38645360	38645360	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:38645360G>A	uc021wvo.1	-	10	1785	c.1733C>T	c.(1732-1734)cCc>cTc	p.P578L	SCN5A_uc021wvk.1_Missense_Mutation_p.P578L|SCN5A_uc021wvl.1_Missense_Mutation_p.P578L|SCN5A_uc021wvm.1_Missense_Mutation_p.P578L|SCN5A_uc021wvn.1_Missense_Mutation_p.P578L|SCN5A_uc021wvp.1_Missense_Mutation_p.P578L|SCN5A_uc021wvq.1_Missense_Mutation_p.P578L|SCN5A_uc021wvr.1_Missense_Mutation_p.P578L|SCN5A_uc021wvs.1_Missense_Mutation_p.P578L|SCN5A_uc021wvt.1_Missense_Mutation_p.P578L|SCN5A_uc021wvu.1_Missense_Mutation_p.P578L|SCN5A_uc021wvv.1_Missense_Mutation_p.P578L|SCN5A_uc021wvj.1_Missense_Mutation_p.P444L|SCN5A_uc021wvi.1_Missense_Mutation_p.P444L|SCN5A_uc021wvw.1_Missense_Mutation_p.P189L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	578					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGAGGTTCCGGGACTGGGCTG	0.647000														102			27		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27506677	27506677	+	Silent	SNP	C	T	T	rs148107220		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:27506677C>T	uc002dov.2	-	14	2527	c.2487G>A	c.(2485-2487)cgG>cgA	p.R829R	GTF3C1_uc002dou.3_Silent_p.R829R	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	829						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTATCGTTCTCCGTTCACTGA	0.597000														36			8		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980708	121980708	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:121980708C>T	uc003eew.4	+	3	1264	c.826C>T	c.(826-828)Ctt>Ttt	p.L276F	CASR_uc003eev.4_Missense_Mutation_p.L276F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	276					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.D275N(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGGCCCAGATCTTGAGCCCCT	0.557000														113			45		0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64172194	64172194	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:64172194C>T	uc002lkc.1	-	11	2312	c.2174G>A	c.(2173-2175)gGa>gAa	p.G725E	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_3'UTR	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	725					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TGACCCTGTTCCCTCAAAAGC	0.453000														62			27		0	0	1	0	0
CCNE1	898	broad.mit.edu	37	19	30313009	30313009	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:30313009C>T	uc002nsn.3	+	8	995	c.812C>T	c.(811-813)cCc>cTc	p.P271L	CCNE1_uc002nso.3_Missense_Mutation_p.P256L	NM_001238	NP_001229	P24864	CCNE1_HUMAN	Homo sapiens cyclin E1 (CCNE1), mRNA.	271					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CCGCAGTATCCCCAGCAAATC	0.488000			A		serous ovarian									85			33		0	0	1	0	0
DMC1	11144	broad.mit.edu	37	22	38948707	38948707	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:38948707G>A	uc003avz.1	-	6	560	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	DMC1_uc011anv.1_Missense_Mutation_p.R129C|DMC1_uc003awa.1_Missense_Mutation_p.R129C	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	129					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TTTCCAGTACGAAATTCTGTG	0.274000								Homologous recombination						39			12		0	0	1	0	0
SPRR2D	6703	broad.mit.edu	37	1	153012733	153012733	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:153012733C>T	uc021ozq.1	-	0	90	c.90G>A	c.(88-90)ccG>ccA	p.P30P	SPRR2D_uc001fbb.2_Silent_p.P30P	NM_006945	NP_008876	P22532	SPR2D_HUMAN	Homo sapiens small proline-rich protein 2D (SPRR2D), mRNA.	30	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].				keratinization	cornified envelope|cytoplasm				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGGCACTTCGGGGGTGGAC	0.617000														128			37		0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410378	159410378	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:159410378C>G	uc010piv.2	+	0	867	c.830C>G	c.(829-831)aCc>aGc	p.T277S	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	277					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TCAGAGAACACCAGAGAACAT	0.512000														67			59		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49418438	49418438	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:49418438G>A	uc001rta.4	-	49	15975	c.15975C>T	c.(15973-15975)ccC>ccT	p.P5325P		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5325					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCTCCATAAGGGGGTGGCGCC	0.532000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				17			10		0	0	1	0	0
IL13RA2	3598	broad.mit.edu	37	X	114251824	114251824	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:114251824G>A	uc004epx.3	-	1	134	c.9C>T	c.(7-9)ttC>ttT	p.F3F	IL13RA2_uc010nqd.1_Silent_p.F3F|IL13RA2_uc022cdb.1_Silent_p.F3F	NM_000640	NP_000631	Q14627	I13R2_HUMAN	Homo sapiens interleukin 13 receptor, alpha 2 (IL13RA2), mRNA.	3						extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	p.F3F(2)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						CCAAGCAAACGAAAGCCATTT	0.328000														63			18		0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26672735	26672735	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:26672735C>T	uc001bmd.4	-	1	564	c.414G>A	c.(412-414)atG>atA	p.M138I		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 3.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CAGTCCTGGCCATAGCTCCCA	0.632000														48			8		0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10396060	10396060	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:10396060G>A	uc003wta.3	+	4	856	c.816G>A	c.(814-816)tgG>tgA	p.W272*	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Intron|PRSS55_uc003wtb.3_Intron	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	272	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TCATAAGCTGGGGAAAGAGCT	0.577000														80			20		0	0	1	0	0
KIAA1586	57691	broad.mit.edu	37	6	56917839	56917839	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:56917839C>T	uc003pdj.3	+	3	712	c.542C>T	c.(541-543)tCc>tTc	p.S181F	KIAA1586_uc011dxm.2_Missense_Mutation_p.S154F	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	Homo sapiens KIAA1586 (KIAA1586), mRNA.	181							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GTCCATGTGTCCAAGGAATGG	0.363000														99			27		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110420353	110420353	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:110420353G>A	uc003yne.3	+	17	1993	c.1889G>A	c.(1888-1890)gGa>gAa	p.G630E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	630					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAACCAAAGGAAAACCCAAC	0.403000										HNSCC(38;0.096)				55			18		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102056192	102056192	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:102056192G>A	uc001tii.3	+	18	2154	c.2014G>A	c.(2014-2016)Gat>Aat	p.D672N	MYBPC1_uc001tig.3_Missense_Mutation_p.D697N|MYBPC1_uc010svr.2_Missense_Mutation_p.D672N|MYBPC1_uc010svs.2_Missense_Mutation_p.D672N|MYBPC1_uc001tij.3_Missense_Mutation_p.D672N|MYBPC1_uc010svt.2_Missense_Mutation_p.D660N|MYBPC1_uc010svu.2_Missense_Mutation_p.D653N|MYBPC1_uc001tik.3_Missense_Mutation_p.D646N|MYBPC1_uc001tih.3_Missense_Mutation_p.D697N|MYBPC1_uc010svq.2_Missense_Mutation_p.D659N	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	672	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	p.D671G(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GCTGAATTTTGATCTCTGCAA	0.428000														54			8		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139889228	139889228	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:139889228C>G	uc003lfs.2	+	20	3926	c.3772C>G	c.(3772-3774)Ctt>Gtt	p.L1258V	ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.L1277V|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.L1258V|ANKHD1-EIF4EBP3_uc003lft.1_Missense_Mutation_p.L469V|ANKHD1-EIF4EBP3_uc003lfu.1_Missense_Mutation_p.L738V|ANKHD1-EIF4EBP3_uc003lfv.1_Missense_Mutation_p.L335V|ANKHD1-EIF4EBP3_uc011czh.1_5'UTR|ANKHD1-EIF4EBP3_uc003lfw.3_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1258						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGACGGGTCTTACCCCCTT	0.393000														61			14		0	0	1	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8430912	8430912	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:8430912G>A	uc002mjq.1	+	1	588	c.393G>A	c.(391-393)gaG>gaA	p.E131E	ANGPTL4_uc002mjr.1_Silent_p.E131E|ANGPTL4_uc010xkc.1_5'UTR	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	Homo sapiens angiopoietin-like 4 (ANGPTL4), transcript variant 1, mRNA.	131					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GGCACCTGGAGAAGCAGCACC	0.562000														40			15		0	0	1	0	0
PPME1	51400	broad.mit.edu	37	11	73941314	73941314	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:73941314C>T	uc001ouw.3	+	5	522	c.423C>T	c.(421-423)gcC>gcT	p.A141A	PPME1_uc009yty.3_Silent_p.A11A|PPME1_uc001oux.3_5'Flank	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN	Homo sapiens protein phosphatase methylesterase 1 (PPME1), mRNA.	141					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					TGGTTGAAGCCATGTATGGGG	0.448000														121			29		0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88652371	88652371	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:88652371C>T	uc001xwm.3	-	6	1262	c.1140G>A	c.(1138-1140)atG>atA	p.M380I	KCNK10_uc001xwn.3_Missense_Mutation_p.M380I|KCNK10_uc001xwo.3_Missense_Mutation_p.M375I	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	375					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GCCGGCGCTCCATGCTGCGGA	0.667000														31			7		0	0	1	0	0
WIPF3	644150	broad.mit.edu	37	7	29918687	29918687	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:29918687C>T	uc022aaz.1	+	3	468	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S	WIPF3_uc003taj.2_Missense_Mutation_p.P96S	NM_001080529	NP_001073998	B8ZZV2	B8ZZV2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 3 (WIPF3), mRNA.	96								p.P96L(1)		breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						GAGCACACCTCCCACCCTGGG	0.517000														17			10		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5754252	5754252	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:5754252C>T	uc002mda.3	+	12	1335	c.1274C>T	c.(1273-1275)cCt>cTt	p.P425L	CATSPERD_uc010duj.1_Missense_Mutation_p.P83L	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	425						integral to membrane		p.P425H(1)									TCCCTGATTCCTCTGGTAAGT	0.493000														86			26		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130410929	130410929	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:130410929C>T	uc004ewe.4	-	13	2890	c.2607G>A	c.(2605-2607)gtG>gtA	p.V869V	IGSF1_uc004ewd.3_Silent_p.V864V|IGSF1_uc022cdv.1_Silent_p.V855V|IGSF1_uc004ewf.2_Silent_p.V844V	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	864	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCACGAGCTCCACAGGGTCGC	0.537000														99			57		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137269993	137269993	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:137269993C>T	uc003vtt.3	-	13	1526	c.1525G>A	c.(1525-1527)Gac>Aac	p.D509N	DGKI_uc003vtu.3_Missense_Mutation_p.D209N	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	509					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.P508T(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GGAGGCAAGTCGGGGTTTCTT	0.478000														120			30		0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4217071	4217071	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:4217071G>A	uc010dtt.1	+	17	2190	c.1914G>A	c.(1912-1914)atG>atA	p.M638I	ANKRD24_uc002lzs.2_Missense_Mutation_p.M609I|ANKRD24_uc002lzt.2_Missense_Mutation_p.M610I	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	638										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TGGAGGCCATGGGGGTGGAGG	0.557000														39			12		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370073	86370073	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr13:86370073G>A	uc001vll.1	-	1	1030	c.571C>T	c.(571-573)Cgt>Tgt	p.R191C	SLITRK6_uc021rla.1_Missense_Mutation_p.R191C	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	191						integral to membrane		p.R191C(2)|p.L190I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGATTTCCACGAAGATCTAGA	0.388000														121			39		0	0	1	0	0
EVX2	344191	broad.mit.edu	37	2	176948377	176948377	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:176948377G>A	uc010zeu.2	-	0	314	c.128C>T	c.(127-129)tCg>tTg	p.S43L		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.	43						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S43S(1)		kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CGGGTGCTGCGAATTTTCCAG	0.602000														70			9		0	0	1	0	0
TRAFD1	10906	broad.mit.edu	37	12	112578685	112578685	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:112578685C>T	uc001ttp.3	+	4	386	c.300C>T	c.(298-300)ctC>ctT	p.L100L	TRAFD1_uc001tto.3_Silent_p.L100L|TRAFD1_uc009zwb.2_Silent_p.L100L|TRAFD1_uc010syj.1_Non-coding_Transcript	NM_006700	NP_006691	O14545	TRAD1_HUMAN	Homo sapiens TRAF-type zinc finger domain containing 1 (TRAFD1), transcript variant 2, mRNA.	100					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						TTTCCATTCTCAAACTGAAGG	0.463000														85			28		0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4219687	4219687	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:4219687G>A	uc010dtt.1	+	18	3379	c.3103G>A	c.(3103-3105)Gaa>Aaa	p.E1035K		NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	1035										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GACCGAGGCGGAAAGGGCTCG	0.667000														58			15		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47039691	47039692	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:47039691_47039692CC>TT	uc003cqp.3	+	20	3272_3273	c.3093_3094CC>TT	c.(3091-3096)accctc>acTTtc	p.L1032F	NBEAL2_uc010hjm.2_Missense_Mutation_p.L593F	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1032							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACCTCTGGACCCTCAGTGACTT	0.614000														19			6		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88472554	88472554	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:88472554C>T	uc002bme.2	-	16	2307	c.2001G>A	c.(1999-2001)atG>atA	p.M667I	NTRK3_uc002bmh.2_Missense_Mutation_p.M659I|NTRK3_uc002bmf.2_Missense_Mutation_p.M667I|NTRK3_uc021sua.1_Missense_Mutation_p.M659I|NTRK3_uc010upl.1_Missense_Mutation_p.M569I|NTRK3_uc010bnh.1_Missense_Mutation_p.M659I	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	667	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.G666G(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCAGGTACACCATACCCGAGG	0.582000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				48			12		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21073827	21073827	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:21073827C>T	uc010vbe.2	-	24	3696	c.3696G>A	c.(3694-3696)caG>caA	p.Q1232Q		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1232	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGTAGATTTTCTGTATGAATG	0.413000														95			28		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857492	9857492	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:9857492G>A	uc010uym.2	-	13	4219	c.3909C>T	c.(3907-3909)gaC>gaT	p.D1303D	GRIN2A_uc002czo.4_Silent_p.D1303D|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1303					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCCTGCTAAGGTCTAGCTCCC	0.493000														88			32		0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214341	3214341	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:3214341C>T	uc002fvi.2	+	0	803	c.737C>T	c.(736-738)tCc>tTc	p.S246F						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		ACGTGTAGTTCCCACCTCACT	0.567000														73			30		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10079068	10079068	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:10079068C>T	uc002mmq.1	-	58	4393	c.4307G>A	c.(4306-4308)gGa>gAa	p.G1436E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1436	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CACAGGGTCTCCCTTGGGACC	0.607000														145			40		0	0	1	0	0
SLC47A1	55244	broad.mit.edu	37	17	19470492	19470492	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:19470492C>T	uc002gvx.3	+	13	1346	c.1260C>T	c.(1258-1260)ggC>ggT	p.G420G	SLC47A1_uc002gvy.1_Silent_p.G420G|SLC47A1_uc010vyz.1_Silent_p.G397G|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Silent_p.G225G|SLC47A1_uc010vza.1_Silent_p.G132G|SLC47A1_uc010vzb.1_Silent_p.G154G|SLC47A1_uc010vzc.1_Silent_p.G92G	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	420						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					ATGTGGTTGGCCTCCCCATCG	0.547000														161			44		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31602786	31602786	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:31602786G>A	uc002rnv.1	-	12	1268	c.1189C>T	c.(1189-1191)Ctg>Ttg	p.L397L		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	397	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGGCTCAGCAGGGTCTTTCTG	0.527000														87			23		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29879464	29879464	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:29879464G>A	uc003afo.3	+	1	1055	c.984G>A	c.(982-984)agG>agA	p.R328R		NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	328	Coil 2B.|Rod.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TGCAGGCCAGGACCACAGAGC	0.612000														115			36		0	0	1	0	0
C15orf48	84419	broad.mit.edu	37	15	45724290	45724290	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:45724290C>T	uc001zvg.3	+	3	261	c.143C>T	c.(142-144)cCa>cTa	p.P48L	C15orf48_uc001zvh.3_Missense_Mutation_p.P48L|C15orf48_uc021skp.1_5'Flank	NM_197955	NP_922946	Q9C002	NMES1_HUMAN	Homo sapiens chromosome 15 open reading frame 48 (C15orf48), transcript variant 1, mRNA.	48						nucleus				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		AAAAAAAATCCAGAACCTTGG	0.318000														28			4		0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71549834	71549834	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:71549834G>A	uc004agu.3	+	12	1535	c.1230G>A	c.(1228-1230)cgG>cgA	p.R410R	PIP5K1B_uc011lrq.2_Silent_p.R410R|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	410						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CTAAGAAACGGTGCAATTCAA	0.408000														55			16		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113675607	113675607	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:113675607A>T	uc001poh.3	-	19	2595	c.2562T>A	c.(2560-2562)aaT>aaA	p.N854K	USP28_uc001pog.3_Missense_Mutation_p.N530K|USP28_uc010rwy.2_Missense_Mutation_p.N697K|USP28_uc001poi.3_Missense_Mutation_p.N177K	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	854					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CATAGCTAAGATTTTTATCTG	0.453000														58			17		0	0	1	0	0
MCM9	254394	broad.mit.edu	37	6	119245020	119245020	+	Missense_Mutation	SNP	G	A	A	rs150656647		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:119245020G>A	uc021zeh.1	-	1	592	c.577C>T	c.(577-579)Cca>Tca	p.P193S	MCM9_uc003pyh.3_Missense_Mutation_p.P193S	NM_017696	NP_060166	Q9NXL9	MCM9_HUMAN	Homo sapiens minichromosome maintenance complex component 9 (MCM9), transcript variant 1, mRNA.	193					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CACCTGGTTGGAGACGAAGAC	0.418000														54			20		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28541494	28541494	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:28541494C>T	uc003nlo.3	-	3	2790	c.2172G>A	c.(2170-2172)ggG>ggA	p.G724G		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	724					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ttttggttttcccttcttcag	0.338000														27			13		0	0	1	0	0
OR1D4	653166	broad.mit.edu	37	17	3144330	3144330	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:3144330G>A	uc002fvf.3	+	0	361	c.361G>A	c.(361-363)Gat>Aat	p.D121N						Homo sapiens olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) (OR1D4), non-coding RNA.																		GATGGCGTATGATCGCTATGT	0.567000														64			13		0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100208729	100208729	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:100208729G>A	uc003hur.2	-	1	226	c.112C>T	c.(112-114)Cgt>Tgt	p.R38C	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Missense_Mutation_p.R38C	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	38					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	ACCTTAATACGAACTTCATGG	0.348000														50			9		0	0	1	0	0
ZNF295	49854	broad.mit.edu	37	21	43413584	43413584	+	Silent	SNP	A	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:43413584A>G	uc021wjo.1	-	0	621	c.621T>C	c.(619-621)agT>agC	p.S207S	ZNF295_uc002yzz.4_Silent_p.S207S|ZNF295_uc002zab.4_Silent_p.S207S|ZNF295_uc002yzy.4_Silent_p.S207S|ZNF295_uc002zaa.4_Silent_p.S207S|ZNF295_uc010gov.1_Silent_p.S207S|ZNF295_uc002zac.2_Silent_p.S207S	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	207					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						CTTTCGGCCAACTCTTTTCAG	0.413000														138			38		0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27128374	27128374	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:27128374G>A	uc001zbd.2	+	4	802	c.270G>A	c.(268-270)acG>acA	p.T90T	GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Silent_p.T90T	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	90					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTCCGACACGGAAATGGTAG	0.652000														41			14		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1083140	1083140	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:1083140C>T	uc001lsx.1	+	15	2067	c.2040C>T	c.(2038-2040)tcC>tcT	p.S680S		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	680						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCTGCCGCTCCCTCTCCGAGG	0.657000														17			6		0	0	1	0	0
LGALS9B	284194	broad.mit.edu	37	17	20354887	20354887	+	Silent	SNP	A	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:20354887A>C	uc002gxa.1	-	9	896	c.831T>G	c.(829-831)gcT>gcG	p.A277A	LGALS9B_uc002gwz.1_Silent_p.A276A|LGALS9B_uc010vzh.1_Silent_p.A189A	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9B (LGALS9B), mRNA.	277	Galectin 2.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						TACGGACCACAGCATTCTCAT	0.572000														49			13		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153594930	153594930	+	Splice_Site	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:153594930C>T	uc004fkk.2	-	7	1314	c.1065_splice	c.e7+1	p.K355_splice	FLNA_uc010nuu.1_Splice_Site_p.K355_splice	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	355					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGGGCTCACCTTATGAGTCC	0.627000														45			20		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50444451	50444451	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:50444451C>T	uc003tow.4	+	3	536	c.381C>T	c.(379-381)atC>atT	p.I127I	IKZF1_uc022acq.1_Silent_p.I127I|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Intron|IKZF1_uc022acu.1_Intron|IKZF1_uc003tox.4_Silent_p.I127I|IKZF1_uc022acv.1_Intron|IKZF1_uc022acw.1_Intron|IKZF1_uc022acx.1_Silent_p.I127I|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Intron|IKZF1_uc003toy.4_Silent_p.I127I|IKZF1_uc003toz.4_Silent_p.I97I|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	127					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCATTTGCATCGGGCCCAATG	0.517000			"""D,T"""	BCL6	"""ALL, DLBCL"""									38			7		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91760643	91760643	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:91760643C>T	uc010aty.3	-	22	4140	c.3986G>A	c.(3985-3987)gGg>gAg	p.G1329E		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1329					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCCAAGTTCCCCTTGAGACG	0.537000														47			15		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108609540	108609540	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:108609540G>A	uc002tdv.3	+	3	681	c.405G>A	c.(403-405)ctG>ctA	p.L135L	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Silent_p.L135L|SLC5A7_uc010ywn.2_Silent_p.L22L	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	135					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTCCTGCACTGATGGGAGAAA	0.443000														52			29		0	0	1	0	0
IFNE	338376	broad.mit.edu	37	9	21481523	21481523	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:21481523C>T	uc003zpg.3	-	0	790	c.171G>A	c.(169-171)agG>agA	p.R57R	MIR31HG_uc003zpe.2_Intron	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN	Homo sapiens interferon, epsilon (IFNE), mRNA.	57					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						GAAAGTTTTTCCTGTGTGGTA	0.413000														76			24		0	0	1	0	0
AK302694	0	broad.mit.edu	37	10	30998229	30998229	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:30998229C>T	uc010qdx.1	+	7	1317	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		TTTCAAAGATCCCGGAAGTTT	0.463000														20			5		0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135745729	135745729	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:135745729C>T	uc003eqv.2	+	2	2668	c.2051C>T	c.(2050-2052)tCt>tTt	p.S684F	PPP2R3A_uc011blz.2_5'UTR|PPP2R3A_uc003eqw.2_Missense_Mutation_p.S63F|PPP2R3A_uc011bma.1_Non-coding_Transcript	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	684	Pro-rich.				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCAGCCACCTCTCCAAGTAGT	0.418000														82			24		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11134267	11134267	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:11134267G>A	uc010dxp.3	+	20	3293	c.2933G>A	c.(2932-2934)cGa>cAa	p.R978Q	SMARCA4_uc010dxo.3_Missense_Mutation_p.R978Q|SMARCA4_uc002mqf.4_Missense_Mutation_p.R978Q|SMARCA4_uc002mqg.1_Missense_Mutation_p.R978Q|SMARCA4_uc010dxq.3_Missense_Mutation_p.R978Q|SMARCA4_uc010dxr.3_Missense_Mutation_p.R978Q|SMARCA4_uc002mqj.4_Missense_Mutation_p.R978Q|SMARCA4_uc010dxs.3_Missense_Mutation_p.R978Q|SMARCA4_uc010dxt.1_Missense_Mutation_p.R198Q|SMARCA4_uc002mqh.4_Missense_Mutation_p.R101Q|SMARCA4_uc002mqi.1_Missense_Mutation_p.R181Q	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	978					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTCTTGCTCCGACGACTCAAG	0.577000			"""F, N, Mis"""		NSCLC									20			13		0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223535	44223535	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:44223535C>T	uc002oxh.3	+	1	972	c.825C>T	c.(823-825)ggC>ggT	p.G275G	IRGC_uc021uvh.1_Silent_p.G275G	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	275						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TGGTGTTGGGCGTCATCCAGG	0.637000														52			19		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538745	55538745	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:55538745C>T	uc003xsd.1	+	3	2451	c.2303C>T	c.(2302-2304)tCc>tTc	p.S768F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	768					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.S768F(2)|p.S768C(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTCAAAATTCCAAGGTTCAA	0.289000														41			27		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086801	92086801	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:92086801C>T	uc001pdj.4	+	0	1540	c.1523C>T	c.(1522-1524)aCc>aTc	p.T508I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	508	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGTACATCACCTATAGTATC	0.398000										TCGA Ovarian(4;0.039)				96			26		0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161508765	161508766	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:161508765_161508766AC>TT	uc003qtn.3	+	9	2744_2745	c.2602_2603AC>TT	c.(2602-2604)act>TTt	p.T868F	MAP3K4_uc010kkc.1_Missense_Mutation_p.T868F|MAP3K4_uc003qto.3_Missense_Mutation_p.T868F|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.T321F	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	868					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TGTTCCAGACACTCTTGCTGAG	0.391000														80			23		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20006621	20006621	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr13:20006621G>A	uc001umd.3	-	16	1425	c.1214C>T	c.(1213-1215)tCg>tTg	p.S405L	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.S294L|TPTE2_uc001ume.3_Missense_Mutation_p.S328L|TPTE2_uc009zzm.3_Missense_Mutation_p.S76L|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.S76L	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	405	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.N404S(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACCACGAATCGAATAAATAAT	0.388000														31			5		0	0	1	0	0
CLPS	1208	broad.mit.edu	37	6	35765004	35765004	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:35765004G>A	uc003ole.2	-	0	118	c.62C>T	c.(61-63)cCc>cTc	p.P21L	CLPS_uc021yyz.1_5'UTR|CLPS_uc003olf.2_Missense_Mutation_p.P21L	NM_001832	NP_001823	P04118	COL_HUMAN	Homo sapiens colipase, pancreatic (CLPS), transcript variant 1, mRNA.	21					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region				large_intestine(2)|lung(2)|prostate(1)	5						GATCCCCCGGGGGCCAGGAGC	0.587000														115			17		0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12896253	12896253	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:12896253C>T	uc002gnz.4	-	23	2480	c.2363G>A	c.(2362-2364)cGg>cAg	p.R788Q	ELAC2_uc002gnu.4_Missense_Mutation_p.R185Q|ELAC2_uc002gnv.4_Missense_Mutation_p.R416Q|ELAC2_uc002gnx.4_Missense_Mutation_p.R548Q|ELAC2_uc010vvo.2_Missense_Mutation_p.R586Q|ELAC2_uc010vvp.2_Missense_Mutation_p.R769Q|ELAC2_uc010vvq.2_Missense_Mutation_p.R787Q|ELAC2_uc010vvr.2_Missense_Mutation_p.R748Q	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	788					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CCGCACCTGCCGCAGCTCCCG	0.657000														76			24		0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133335	57133335	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:57133335C>T	uc002qnm.4	+	2	918	c.680C>T	c.(679-681)tCc>tTc	p.S227F	ZNF71_uc021vcg.1_Missense_Mutation_p.S227F	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	227						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CGGAAGACTTCCTCTCTCACC	0.637000														40			11		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415683	57415683	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:57415683C>T	uc021wfl.1	+	0	889	c.522C>T	c.(520-522)tcC>tcT	p.S174S	GNAS-AS1_uc002xzs.2_Intron|GNAS_uc002xzt.3_5'UTR|GNAS_uc021wfm.1_Silent_p.S174S|GNAS_uc010gjq.3_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGACGCCTCCCCAAGTCGCG	0.672000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				21			6		0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71602113	71602114	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:71602113_71602114CC>TT	uc002fap.2	-	11	1397_1398	c.1298_1299GG>AA	c.(1297-1299)cgg>cAA	p.R433Q		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	433					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	ACTCCTGGATCCGGCTGCACGC	0.520000														48			15		0	0	1	0	0
NDRG3	57446	broad.mit.edu	37	20	35299773	35299773	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:35299773C>G	uc002xfw.3	-	8	701	c.559G>C	c.(559-561)Gac>Cac	p.D187H	NDRG3_uc002xfx.3_Missense_Mutation_p.D175H|NDRG3_uc010zvq.2_Missense_Mutation_p.D92H|NDRG3_uc010zvr.2_Missense_Mutation_p.D75H	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA.	187					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				AAAATAATGTCCACAACATTG	0.378000														63			17		0	0	1	0	0
ZNF80	7634	broad.mit.edu	37	3	113955735	113955735	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:113955735G>A	uc010hqo.3	-	0	691	c.187C>T	c.(187-189)Ctc>Ttc	p.L63F	ZNF80_uc003ebf.3_Non-coding_Transcript	NM_007136	NP_009067	P51504	ZNF80_HUMAN	Homo sapiens zinc finger protein 80 (ZNF80), mRNA.	63						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CGAACAAGGAGGCTGTTTTTG	0.483000														61			15		0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180420145	180420145	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:180420145G>A	uc003mmr.3	+	1	566	c.382G>A	c.(382-384)Gag>Aag	p.E128K		NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	128					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GGCCACCTGGGAGCTGCGGGT	0.458000														9			3		0	0	1	0	0
MSH5	4439	broad.mit.edu	37	6	31726370	31726370	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:31726370C>T	uc003nwu.2	+	13	1317	c.1189C>T	c.(1189-1191)Ccc>Tcc	p.P397S	MSH5_uc003nwx.2_Missense_Mutation_p.P414S|MSH5_uc003nwv.2_Missense_Mutation_p.P397S|MSH5_uc003nww.2_Missense_Mutation_p.P397S|MSH5_uc011dof.1_Missense_Mutation_p.P96S|MSH5_uc003nwy.1_Missense_Mutation_p.P71S|SAPCD1_uc003nwz.4_5'Flank	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	397					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						CACAGTCCTCCCCAACATAGA	0.532000								Direct reversal of damage;Mismatch excision repair (MMR)						50			10		0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76430089	76430089	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:76430089C>T	uc002bbq.3	+	2	235	c.80C>T	c.(79-81)tCc>tTc	p.S27F	C15orf27_uc010bkp.3_5'UTR|C15orf27_uc002bbr.3_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	27						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GAGATCATCTCCCAACAAGTA	0.502000														113			33		0	0	1	0	0
NMS	129521	broad.mit.edu	37	2	101097591	101097591	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:101097591C>T	uc002tan.1	+	7	383	c.376C>T	c.(376-378)Cac>Tac	p.H126Y		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.	126					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						GTTGCAGGATCACACTGCGAC	0.423000														115			34		0	0	1	0	0
PLA2G12B	84647	broad.mit.edu	37	10	74700940	74700940	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:74700940G>A	uc001jtf.1	-	2	520	c.453C>T	c.(451-453)gtC>gtT	p.V151V	PLA2G12B_uc009xqt.1_Silent_p.V61V|PLA2G12B_uc010qjz.1_Silent_p.V151V	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	Homo sapiens phospholipase A2, group XIIB (PLA2G12B), mRNA.	151					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					CCACTTTGGAGACAAAGCCCA	0.498000														90			29		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11132428	11132428	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:11132428G>A	uc010dxp.3	+	19	3004	c.2644G>A	c.(2644-2646)Gaa>Aaa	p.E882K	SMARCA4_uc010dxo.3_Missense_Mutation_p.E882K|SMARCA4_uc002mqf.4_Missense_Mutation_p.E882K|SMARCA4_uc002mqg.1_Missense_Mutation_p.E882K|SMARCA4_uc010dxq.3_Missense_Mutation_p.E882K|SMARCA4_uc010dxr.3_Missense_Mutation_p.E882K|SMARCA4_uc002mqj.4_Missense_Mutation_p.E882K|SMARCA4_uc010dxs.3_Missense_Mutation_p.E882K|SMARCA4_uc010dxt.1_Missense_Mutation_p.E102K|SMARCA4_uc002mqh.4_Missense_Mutation_p.E5K|SMARCA4_uc002mqi.1_Missense_Mutation_p.E85K	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	882	Helicase ATP-binding.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GATTGTGGACGAAGGTCACCG	0.632000			"""F, N, Mis"""		NSCLC									15			10		0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59720330	59720330	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:59720330C>T	uc003xtw.1	-	8	1778	c.1557G>A	c.(1555-1557)agG>agA	p.R519R		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	519						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GTGCTTTGTCCCTCTGCATGC	0.443000											OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			13		0	0	1	0	0
RMND1	55005	broad.mit.edu	37	6	151766735	151766735	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:151766735T>C	uc003qoi.2	-	1	392	c.212A>G	c.(211-213)aAc>aGc	p.N71S	RMND1_uc011eeq.1_5'Flank|RMND1_uc003qoj.3_Missense_Mutation_p.N71S|RMND1_uc011eer.1_Missense_Mutation_p.N71S	NM_017909	NP_060379	Q9NWS8	RMND1_HUMAN	Homo sapiens required for meiotic nuclear division 1 homolog (S. cerevisiae) (RMND1), mRNA.	71										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		CTTTTTTTGGTTCATTTCCAG	0.413000														164			67		0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24105562	24105562	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:24105562C>T	uc002dmd.3	+	6	962	c.765C>T	c.(763-765)ttC>ttT	p.F255F	PRKCB_uc002dme.3_Silent_p.F255F	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	255	C2.				B cell activation|B cell receptor signaling pathway|apoptosis|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	ATP binding|androgen receptor 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)	GGAATGACTTCATGGGATCTT	0.423000														87			24		0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36615273	36615273	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:36615273C>T	uc021qge.1	-	0	446	c.446G>A	c.(445-447)gGg>gAg	p.G149E	RAG2_uc021qgc.1_Missense_Mutation_p.G149E|RAG2_uc021qgd.1_Missense_Mutation_p.G149E|RAG2_uc001mwv.4_Missense_Mutation_p.G149E|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	149					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CATACTTTTCCCTCGGCTGTA	0.453000									Familial Hemophagocytic Lymphohistiocytosis					125			26		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594119	123594119	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:123594119G>A	uc003vle.3	+	2	934	c.495G>A	c.(493-495)aaG>aaA	p.K165K	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Silent_p.K165K|SPAM1_uc022aks.1_Silent_p.K165K|SPAM1_uc003vlf.4_Silent_p.K165K|SPAM1_uc010lku.3_Silent_p.K165K	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	165					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	ATGTTTACAAGAATAGGTCTA	0.393000														85			20		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141796173	141796173	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:141796173C>T	uc003vwy.3	+	41	5016	c.4962C>T	c.(4960-4962)ttC>ttT	p.F1654F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1654	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACAGTCAGTTCCTGCTGGGCC	0.592000														58			11		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150923154	150923154	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:150923154G>A	uc003lue.4	-	8	7547	c.7534C>T	c.(7534-7536)Ccc>Tcc	p.P2512S		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2512	Cadherin 22.				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)			GTGCCATAGGGACCACTATCT	0.438000														147			42		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140774693	140774693	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:140774693C>T	uc003lkd.2	+	0	3211	c.2313C>T	c.(2311-2313)ccC>ccT	p.P771P	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.P771P|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	780					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCTTTCCCCAGCCCAACT	0.483000														86			18		0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232087527	232087527	+	Silent	SNP	A	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:232087527A>G	uc002vrq.4	+	5	703	c.591A>G	c.(589-591)acA>acG	p.T197T	ARMC9_uc002vrp.4_Silent_p.T197T	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.	197							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		AGCTTTTAACAATATATGTAT	0.363000														38			8		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42471468	42471468	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:42471468G>A	uc002osh.3	-	21	3100	c.2946C>T	c.(2944-2946)ttC>ttT	p.F982F	ATP1A3_uc010xwf.2_Silent_p.F993F|ATP1A3_uc010xwg.2_Silent_p.F952F|ATP1A3_uc002osg.3_Silent_p.F982F|ATP1A3_uc010xwh.2_Silent_p.F995F			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	982				F -> S (in Ref. 2; CAA31390).	ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AACTGTAGGGGAAGGCACAGA	0.637000														25			17		0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95579448	95579448	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:95579448G>A	uc001ydw.2	-	12	2233	c.2021C>T	c.(2020-2022)cCt>cTt	p.P674L	DICER1_uc021sbc.1_Missense_Mutation_p.P674L|DICER1_uc001ydv.2_Missense_Mutation_p.P664L|DICER1_uc001ydx.2_Missense_Mutation_p.P674L|DICER1_uc021sbd.1_5'Flank	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	674	Dicer dsRNA-binding fold.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGCTCGAAGAGGTGAGTTAAT	0.363000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					56			13		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61847989	61847989	+	Silent	SNP	T	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:61847989T>C	uc001jky.3	-	28	3794	c.3456A>G	c.(3454-3456)ggA>ggG	p.G1152G	ANK3_uc001jkw.3_Silent_p.G286G|ANK3_uc009xpa.3_Silent_p.G286G|ANK3_uc001jkx.3_Silent_p.G330G|ANK3_uc010qih.2_Silent_p.G1153G|ANK3_uc001jkz.4_Silent_p.G1146G|ANK3_uc001jla.1_Silent_p.G218G|ANK3_uc001jlb.1_Silent_p.G670G	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1152					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGCTCAGAATTCCACCTTCAG	0.468000														117			24		0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94322335	94322335	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:94322335G>A	uc001pfa.3	+	7	1174	c.963G>A	c.(961-963)aaG>aaA	p.K321K	PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	321	PAZ.				DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGTCAGTGAAGCCCACACACA	0.388000														72			9		0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71152365	71152365	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:71152365G>A	uc001oqk.3	-	5	784	c.534C>T	c.(532-534)atC>atT	p.I178I	DHCR7_uc001oql.3_Silent_p.I178I	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	178					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	ACAGCAGTGGGATCCAGTTGT	0.577000									Smith-Lemli-Opitz syndrome					59			18		0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17326973	17326973	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:17326973G>A	uc001baa.2	-	8	952	c.762C>T	c.(760-762)gaC>gaT	p.D254D	ATP13A2_uc001bac.2_Silent_p.D249D|ATP13A2_uc001bab.2_Silent_p.D249D|ATP13A2_uc009vpa.1_5'Flank|ATP13A2_uc001bad.1_5'UTR	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	254					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGTAGTAGTGGTCAGCCAGCC	0.617000														15			19		0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148600313	148600313	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:148600313C>T	uc003ewm.3	+	7	761	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	237					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GAGAAAAAATCGTTCCAAGAA	0.383000														47			14		0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54107625	54107625	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:54107625G>A	uc001sef.3	-	12	1795	c.1651C>T	c.(1651-1653)Ccc>Tcc	p.P551S	CALCOCO1_uc001see.3_Missense_Mutation_p.P52S|CALCOCO1_uc010som.2_Missense_Mutation_p.P466S|CALCOCO1_uc010son.2_Missense_Mutation_p.P428S|CALCOCO1_uc009znd.3_Missense_Mutation_p.P551S|CALCOCO1_uc001seg.3_Missense_Mutation_p.P376S|CALCOCO1_uc001seh.2_Missense_Mutation_p.P551S	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.	551	C-terminal AD (CTNNB1 binding site) (By similarity).				Wnt receptor signaling pathway|steroid hormone receptor signaling pathway|transcription, DNA-dependent	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						AGGCCATAGGGTGGGAGCCTC	0.587000														81			27		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169654229	169654229	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:169654229C>T	uc003fgd.3	+	7	1411	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	SAMD7_uc003fge.3_Nonsense_Mutation_p.Q382*|SAMD7_uc011bpo.2_Nonsense_Mutation_p.Q283*	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	382	SAM.									NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			ACTAAAAATTCAGTCACAGGT	0.318000														54			15		0	0	1	0	0
SLC25A17	10478	broad.mit.edu	37	22	41195056	41195056	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:41195056G>A	uc003azc.3	-	1	226	c.86C>T	c.(85-87)cCc>cTc	p.P29L	SLC25A17_uc010gyg.3_Non-coding_Transcript|SLC25A17_uc011aou.2_5'UTR|SLC25A17_uc003azd.3_Non-coding_Transcript|SLC25A17_uc011aov.2_Missense_Mutation_p.P29L	NM_006358	NP_006349	O43808	PM34_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 (SLC25A17), nuclear gene encoding mitochondrial protein, mRNA.	29					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TGTATCCAGGGGAAAAAACAC	0.363000														30			17		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071989	17071989	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:17071989C>T	uc002zlp.1	-	0	1712	c.1452G>A	c.(1450-1452)ggG>ggA	p.G484G		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	484					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CATTTATTATCCCTTCAGTTC	0.527000														149			42		0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20110389	20110389	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:20110389G>A	uc003wzr.3	-	1	1164	c.1053C>T	c.(1051-1053)agC>agT	p.S351S	LZTS1_uc010ltg.2_Silent_p.S351S	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 1 (LZTS1), mRNA.	351					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	Golgi apparatus|cell junction|dendritic spine|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CCTTCATGAGGCTCTCGAGCT	0.652000														31			22		0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15115107	15115107	+	Missense_Mutation	SNP	G	A	A	rs139895854		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:15115107G>A	uc001int.2	+	8	1090	c.836G>A	c.(835-837)gGa>gAa	p.G279E	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Missense_Mutation_p.G226E	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	226					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						GTAACCAGTGGAAATGCTAAA	0.353000														55			13		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51839578	51839578	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:51839578G>A	uc010ufy.2	-	6	820	c.595C>T	c.(595-597)Cct>Tct	p.P199S	DMXL2_uc002abf.3_Missense_Mutation_p.P199S|DMXL2_uc010bfa.3_Missense_Mutation_p.P199S	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	199						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CCAGTCATAGGATACCACACT	0.323000														52			9		0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49509384	49509384	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:49509384G>A	uc002xvt.1	-	4	2212	c.1867C>T	c.(1867-1869)Ctt>Ttt	p.L623F	ADNP_uc002xvu.1_Missense_Mutation_p.L623F	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	623						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						AGAGGACAAAGGGTTTTCCCA	0.443000														240			80		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57647171	57647171	+	Silent	SNP	T	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:57647171T>C	uc002qnz.1	-	4	920	c.534A>G	c.(532-534)tcA>tcG	p.S178S		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCGTGACTTTGAACTGAATA	0.408000														157			49		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34080130	34080130	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:34080130C>T	uc001bxm.1	-	39	6284	c.6107G>A	c.(6106-6108)tGg>tAg	p.W2036*	CSMD2_uc001bxn.1_Nonsense_Mutation_p.W1996*|CSMD2_uc001bxo.1_Nonsense_Mutation_p.W909*	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1996	CUB 12.					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)				TGCTATTTTCCAGGAGCAGTC	0.567000														17			12		0	0	1	0	0
TNFRSF17	608	broad.mit.edu	37	16	12061681	12061681	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:12061681G>A	uc002dbv.3	+	2	750	c.532G>A	c.(532-534)Gag>Aag	p.E178K	TNFRSF17_uc010buy.3_3'UTR|TNFRSF17_uc010buz.3_Missense_Mutation_p.E129K	NM_001192	NP_001183	Q02223	TNR17_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 17 (TNFRSF17), mRNA.	178					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						TACGGAGATAGAGAAATCAAT	0.433000			T	IL2	intestinal T-cell lymphoma									55			16		0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145619714	145619714	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:145619714C>T	uc003zcj.3	-	31	3699	c.3624G>A	c.(3622-3624)acG>acA	p.T1208T	MIR939_uc022bcn.1_5'Flank	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	1208					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	p.T1208T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGTAGAGCTGCGTGTCGATGA	0.622000														15			12		0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219301314	219301314	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:219301314G>A	uc002vib.3	+	14	1958	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	VIL1_uc010zke.2_Missense_Mutation_p.E335K|VIL1_uc002via.3_Missense_Mutation_p.E646K	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	646	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGACTTGGAAGAGGATGATGT	0.557000														144			40		0	0	1	0	0
ZFP91	80829	broad.mit.edu	37	11	58347022	58347022	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:58347022G>A	uc001nmx.4	+	0	436	c.268G>A	c.(268-270)Gac>Aac	p.D90N	LPXN_uc010rkj.2_5'Flank|LPXN_uc010rkk.2_5'Flank|ZFP91_uc001nmy.4_Missense_Mutation_p.D90N|CNTF_uc010rkm.2_Non-coding_Transcript	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA.	90					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CAGGCCTCCCGACGTCCCCGG	0.731000														6			3		0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34825568	34825568	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:34825568C>T	uc003oju.4	+	12	1875	c.1641C>T	c.(1639-1641)ctC>ctT	p.L547L	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_5'Flank	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	547										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCAGTTTGCTCTGGGGAAACC	0.423000														101			40		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183995	197183995	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:197183995G>A	uc002utm.1	-	8	1802	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F	HECW2_uc002utl.1_Missense_Mutation_p.S184F	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	540					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TGCAGGTAAGGAGCTCTCTGC	0.562000														54			16		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42035012	42035012	+	Silent	SNP	T	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:42035012T>A	uc010ucy.2	+	14	5035	c.4854T>A	c.(4852-4854)atT>atA	p.I1618I	MGA_uc010ucz.2_Intron|MGA_uc010uda.1_Silent_p.I234I	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1618	Thr-rich.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGACTGCTATTTCTGACGTGG	0.453000														90			20		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55449566	55449566	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:55449566G>A	uc002qih.4	-	4	2051	c.1975C>T	c.(1975-1977)Cgc>Tgc	p.R659C	NLRP7_uc010esk.3_Missense_Mutation_p.R659C|NLRP7_uc002qig.4_Intron|NLRP7_uc002qii.4_Missense_Mutation_p.R659C|NLRP7_uc010esl.3_Missense_Mutation_p.R687C	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	659							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)		CGAAGAGAGCGAAGATCCTGC	0.498000														112			22		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121477623	121477623	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:121477623G>T	uc001pxx.3	+	35	5147	c.5018G>T	c.(5017-5019)tGg>tTg	p.W1673L	SORL1_uc010rzp.1_Missense_Mutation_p.W519L|SORL1_uc010rzq.1_Missense_Mutation_p.W288L	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1673	Fibronectin type-III 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTAGGCCACTGGGCTCCTCCC	0.517000														125			43		1.8453e-21	1.89119e-21	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53563559	53563559	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:53563559G>A	uc004dsp.3	-	78	12609	c.12207C>T	c.(12205-12207)atC>atT	p.I4069I	HUWE1_uc004dsn.3_Silent_p.I2877I	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	4069	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.V4068A(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCTCTCGAGAGATGATCATAT	0.483000														51			28		0	0	1	0	0
RILP	83547	broad.mit.edu	37	17	1552937	1552937	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:1552937C>T	uc002ftd.3	-	0	456	c.162G>A	c.(160-162)ctG>ctA	p.L54L		NM_031430	NP_113618	Q96NA2	RILP_HUMAN	Homo sapiens Rab interacting lysosomal protein (RILP), mRNA.	54					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTAGCGGCACCAGCCCGGCCG	0.736000														8			2		0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15730487	15730487	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:15730487C>T	uc002nbi.3	+	4	503	c.439C>T	c.(439-441)Cac>Tac	p.H147Y	CYP4F8_uc010xoi.1_3'UTR|CYP4F8_uc010xoj.2_Intron	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	147					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GTGGAGACACCACCGTCGCTT	0.502000														42			7		0	0	1	0	0
GGT5	2687	broad.mit.edu	37	22	24621549	24621549	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:24621549C>T	uc002zzp.4	-	8	1718	c.1301G>A	c.(1300-1302)cGa>cAa	p.R434Q	GGT5_uc002zzo.4_Missense_Mutation_p.R434Q|GGT5_uc002zzr.4_Missense_Mutation_p.R402Q|GGT5_uc002zzq.4_Missense_Mutation_p.R402Q|GGT5_uc011ajm.2_Missense_Mutation_p.R357Q	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	434					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCGGGGGCATCGCTCGCATAA	0.647000														38			9		0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14763957	14763957	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:14763957G>A	uc010dlo.2	+	6	1273	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Missense_Mutation_p.E365K	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	365										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CACATGGGAGGAAAAAGAAAC	0.368000														19			3		0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598250	49598250	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:49598250C>T	uc010rhy.2	+	1	841	c.363C>T	c.(361-363)tcC>tcT	p.S121S	LOC440040_uc009ymb.3_Silent_p.S121S					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		GGCCTGGTTCCAGTTCTGTAG	0.498000														36			5		0	0	1	0	0
DGAT2	84649	broad.mit.edu	37	11	75508220	75508220	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:75508220C>T	uc001oxa.3	+	5	911	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	DGAT2_uc001oxb.3_Missense_Mutation_p.R175W	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2 (DGAT2), transcript variant 1, mRNA.	218					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					CCCTGTCAGCCGGGACACCAT	0.552000														127			31		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187510253	187510253	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:187510253G>A	uc003izf.3	-	26	13448	c.13260C>T	c.(13258-13260)atC>atT	p.I4420I	FAT1_uc010isn.3_Silent_p.I67I	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	4420					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGTCCGTATCGATGGCGTTTG	0.537000										HNSCC(5;0.00058)				244			60		0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84234034	84234034	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:84234034G>A	uc003pjz.3	+	1	1114	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	PRSS35_uc010kbm.3_Missense_Mutation_p.E292K|PRSS35_uc021zce.1_Missense_Mutation_p.E292K	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	292	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.M291T(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GAAATACATGGAACTTGGAAT	0.488000														71			27		0	0	1	0	0
TEX9	374618	broad.mit.edu	37	15	56681579	56681579	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:56681579G>A	uc002adp.3	+	5	381	c.376G>A	c.(376-378)Gga>Aga	p.G126R	TEX9_uc010ugl.2_Missense_Mutation_p.G51R|TEX9_uc002adq.1_Missense_Mutation_p.G51R	NM_198524	NP_940926	Q8N6V9	TEX9_HUMAN	Homo sapiens testis expressed 9 (TEX9), mRNA.	126										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TGCAAATAAAGGAAGGAAAAC	0.274000														30			6		0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11887244	11887244	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:11887244C>T	uc001ate.4	+	9	919	c.806C>T	c.(805-807)tCg>tTg	p.S269L	CLCN6_uc009vnf.1_Silent_p.F272F|CLCN6_uc009vng.1_Silent_p.F260F|CLCN6_uc009vnh.1_Missense_Mutation_p.S269L|CLCN6_uc010oat.2_5'UTR|CLCN6_uc010oau.2_Missense_Mutation_p.S247L	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	269					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGAGGGTTCGTCCTTCTGG	0.552000														38			9		0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45898706	45898706	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:45898706G>A	uc002pbn.3	-	6	1419	c.1342C>T	c.(1342-1344)Cct>Tct	p.P448S	PPP1R13L_uc002pbm.3_5'Flank|PPP1R13L_uc002pbo.3_Missense_Mutation_p.P448S|PPP1R13L_uc002pbp.2_Missense_Mutation_p.P448S	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	448	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCGTTCACAGGGGGCCATGTC	0.642000														0			2		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48316106	48316106	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:48316106G>A	uc003toq.2	+	16	6867	c.6843G>A	c.(6841-6843)gaG>gaA	p.E2281E	ABCA13_uc010kyr.2_Silent_p.E1784E|ABCA13_uc022acp.1_Silent_p.E780E	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2281					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAGATTCTGAGAACAAAATAT	0.338000														21			10		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3293320	3293320	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:3293320C>T	uc002cun.1	-	9	2207	c.2167G>A	c.(2167-2169)Gac>Aac	p.D723N	MEFV_uc021tbw.1_3'UTR|MEFV_uc021tbx.1_Missense_Mutation_p.D303N|MEFV_uc021tby.1_Missense_Mutation_p.D226N|MEFV_uc021tbz.1_Missense_Mutation_p.D142N|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_3'UTR	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	723	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.D723N(2)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	ACTCTGTAGTCCACGAAGATG	0.517000														99			29		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89392937	89392937	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:89392937C>T	uc010upo.1	+	9	2375	c.2001C>T	c.(1999-2001)tcC>tcT	p.S667S	ACAN_uc002bmx.3_Silent_p.S667S|ACAN_uc010upp.1_Silent_p.S667S|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	667					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)			ACCCACTGTCCCGGCACCATG	0.632000														17			4		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13445223	13445223	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:13445223G>A	uc002mwy.3	-	7	1403	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L	CACNA1A_uc010xnd.2_Silent_p.L389L|CACNA1A_uc021ups.1_Silent_p.L389L|CACNA1A_uc010xne.2_Silent_p.L389L|CACNA1A_uc010dze.2_Silent_p.L389L|CACNA1A_uc021upt.1_Silent_p.L389L	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	389	Binding to the beta subunit (By similarity).		L -> F (in EA2; dbSNP:rs121908239).		cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGTACCCATTGAGCTCACGTT	0.542000														64			17		0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	6040081	6040081	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:6040081G>A	uc002meb.3	-	4	701	c.432C>T	c.(430-432)atC>atT	p.I144I	RFX2_uc002mec.3_Silent_p.I144I|RFX2_uc010xiy.1_Silent_p.I99I	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CGCTGGAGACGATGGGGCTCC	0.692000														22			10		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56094421	56094421	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:56094421G>A	uc010giw.1	-	3	878	c.767C>T	c.(766-768)aCc>aTc	p.T256I	CTCFL_uc010gix.1_Missense_Mutation_p.T256I|CTCFL_uc002xym.2_Missense_Mutation_p.T256I|CTCFL_uc010gjb.1_Missense_Mutation_p.T256I|CTCFL_uc010gja.1_Missense_Mutation_p.T256I|CTCFL_uc010gjc.1_Missense_Mutation_p.T256I|CTCFL_uc010gjd.1_Missense_Mutation_p.T256I|CTCFL_uc010gje.3_Missense_Mutation_p.T256I|CTCFL_uc010gjg.3_5'UTR|CTCFL_uc010gjf.3_Missense_Mutation_p.T51I|CTCFL_uc010gjh.2_Missense_Mutation_p.T256I|CTCFL_uc010gji.2_Missense_Mutation_p.T51I|CTCFL_uc010gjj.2_Missense_Mutation_p.T256I|CTCFL_uc021wfe.1_Missense_Mutation_p.T256I|CTCFL_uc021wff.1_Non-coding_Transcript|CTCFL_uc021wfg.1_5'UTR|CTCFL_uc010gjk.1_Missense_Mutation_p.T256I|CTCFL_uc010gjl.1_Missense_Mutation_p.T256I	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	256					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ACAGTGGAAGGTTCCTTTTGC	0.388000														139			43		0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121215771	121215771	+	Missense_Mutation	SNP	G	A	A	rs142688084	byFrequency	TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:121215771G>A	uc003eee.4	-	13	2291	c.2162C>T	c.(2161-2163)aCc>aTc	p.T721I		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	721					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CACAAGACTGGTGAAAAACCT	0.388000								DNA polymerases (catalytic subunits)						57			11		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274089	10274089	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:10274089C>T	uc010uym.2	-	2	490	c.180G>A	c.(178-180)gcG>gcA	p.A60A	GRIN2A_uc002czo.4_Silent_p.A60A|GRIN2A_uc002czr.4_Silent_p.A60A|GRIN2A_uc010buk.3_Silent_p.A60A	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	60					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.A60V(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCAGCCCCGCCGCCTGCTCGG	0.652000														74			22		0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122085294	122085294	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:122085294C>T	uc021xrj.1	-	3	297	c.218G>A	c.(217-219)gGa>gAa	p.G73E	TNIP3_uc010ing.3_5'UTR|TNIP3_uc011cgj.2_Missense_Mutation_p.G66E|TNIP3_uc010ini.3_5'UTR	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	77										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AGCTGTTTTTCCTGGAGTCTT	0.388000														64			15		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45819255	45819255	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:45819255G>A	uc010gpt.1	+	13	2239	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G	TRPM2_uc002zet.1_Silent_p.G713G|TRPM2_uc002zeu.1_Silent_p.G713G|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.G713G|TRPM2_uc002zex.1_Silent_p.G499G|TRPM2_uc002zey.1_Silent_p.G226G	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	713						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGGCCTGGGGGAAGACCACCT	0.627000														42			12		0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160240298	160240298	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:160240298C>T	uc003qsy.1	+	17	1485	c.1446C>T	c.(1444-1446)atC>atT	p.I482I	PNLDC1_uc003qsx.1_Silent_p.I471I	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	471						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CGCGGAACATCCTGAAGGAGT	0.602000														47			12		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48755183	48755183	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:48755183G>A	uc002isl.3	+	23	3537	c.3457G>A	c.(3457-3459)Gag>Aag	p.E1153K	ABCC3_uc002isn.3_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1153	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCACTTTTCGGAGACAGTGAC	0.537000														186			57		0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138738986	138738986	+	Missense_Mutation	SNP	C	T	T	rs141791557	byFrequency	TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:138738986C>T	uc003esy.1	-	0	783	c.518G>A	c.(517-519)gGc>gAc	p.G173D		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	173								p.G173S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCGGCTGAGCCGGTTGGGGA	0.647000														37			18		0	0	1	0	0
GUCA1C	9626	broad.mit.edu	37	3	108627001	108627001	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:108627001C>T	uc003dxj.2	-	3	566	c.498G>A	c.(496-498)ctG>ctA	p.L166L	GUCA1C_uc003dxk.2_Missense_Mutation_p.G180R	NM_005459	NP_005450	O95843	GUC1C_HUMAN	Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA.	166					signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						AAACAATCTCCAGGAGATCCT	0.408000														58			15		0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101557015	101557016	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:101557015_101557016CC>TT	uc001kqf.2	+	6	933_934	c.794_795CC>TT	c.(793-795)tcc>tTT	p.S265F		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	265						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GAGAAGAGCTCCCagcagaact	0.520000														36			9		0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100963506	100963506	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:100963506A>C	uc003duq.2	-	12	1872	c.1669T>G	c.(1669-1671)Tct>Gct	p.S557A	IMPG2_uc011bhe.2_Missense_Mutation_p.S420A	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	557					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TATGGTGAAGATGTTAAGGAC	0.408000														122			40		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143095983	143095983	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:143095983G>A	uc003wcz.3	-	5	1134	c.1047C>T	c.(1045-1047)tcC>tcT	p.S349S		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	349	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCCAACGCAGGGAGAGCTGAG	0.637000														26			4		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47853608	47853608	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:47853608C>A	uc003tny.2	-	47	7128	c.7094G>T	c.(7093-7095)gGa>gTa	p.G2365V	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Missense_Mutation_p.G92V	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2365					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCCAAGAGCTCCAGGCTGAAA	0.458000														34			12		0.00010058	0.000101096	1	1	0
MSH5	4439	broad.mit.edu	37	6	31730276	31730276	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:31730276G>A	uc003nwu.2	+	24	2604	c.2476G>A	c.(2476-2478)Gaa>Aaa	p.E826K	MSH5_uc003nwx.2_Missense_Mutation_p.E813K|MSH5_uc003nwv.2_Missense_Mutation_p.E825K|MSH5_uc003nww.2_Missense_Mutation_p.E825K|MSH5_uc011dof.1_Missense_Mutation_p.E524K|MSH5_uc003nwy.1_Missense_Mutation_p.E469K|SAPCD1_uc003nwz.4_5'UTR	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	825					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						CATGAGCCAGGAAGTGCTGCC	0.507000								Direct reversal of damage;Mismatch excision repair (MMR)						50			15		0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48936112	48936112	+	Missense_Mutation	SNP	G	A	A	rs149917479		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:48936112G>A	uc002rwu.4	-	7	725	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	219					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.R219H(2)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GTGGCCCCACGGAAGGCTCCA	0.542000														114			30		0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275418	71275418	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:71275418C>T	uc003hfi.3	+	2	547	c.373C>T	c.(373-375)Cct>Tct	p.P125S		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	125	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACCCCCATTTCCTCCTATTCC	0.413000														112			36		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118982375	118982375	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:118982375G>A	uc004bjn.3	+	4	2459	c.2078G>A	c.(2077-2079)tGg>tAg	p.W693*	PAPPA_uc011lxp.1_Nonsense_Mutation_p.W388*|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	693					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.W693*(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACACTGGAGTGGTTCCCACCT	0.562000														156			37		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	115200379	115200379	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:115200379C>T	uc002tla.2	+	0	481	c.24C>T	c.(22-24)tcC>tcT	p.S8S		NM_020868	NP_001171507	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 1, mRNA.	8	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CCAGCGTGTCCCATCACATCA	0.473000														41			13		0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587703	55587703	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:55587703C>T	uc010rin.2	+	0	598	c.598C>T	c.(598-600)Cta>Tta	p.L200L		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L199L(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CCAGTGGCTGCTATTCTTTCT	0.408000														112			29		0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23817418	23817419	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:23817418_23817419GG>AA	uc001wjl.3	-	4	1026_1027	c.789_790CC>TT	c.(787-792)aaccgg>aaTTgg	p.R264W	SLC22A17_uc010akk.3_Missense_Mutation_p.R46W|SLC22A17_uc001wjm.3_Missense_Mutation_p.R264W|SLC22A17_uc001wjn.3_Non-coding_Transcript	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.	264					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCATGGGGCCGGTTTCGCTCAG	0.614000														70			20		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84609948	84609948	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:84609948G>A	uc004amn.3	+	3	4610	c.4563G>A	c.(4561-4563)agG>agA	p.R1521R		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1521						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						TGCCCCACAGGAAGCCTGTGC	0.537000														25			5		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5294605	5294605	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:5294605G>A	uc010zqw.2	-	0	419	c.411C>T	c.(409-411)gtC>gtT	p.V137V	PROKR2_uc010zqx.2_Silent_p.V137V|PROKR2_uc010zqy.2_Silent_p.V137V|AX746654_uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	137						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CGTAGAGGGAGACGGTGCGCA	0.612000										HNSCC(71;0.22)				35			10		0	0	1	0	0
B3GNT4	79369	broad.mit.edu	37	12	122691281	122691281	+	Silent	SNP	G	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:122691281G>T	uc001ubx.3	+	2	701	c.483G>T	c.(481-483)gtG>gtT	p.V161V	B3GNT4_uc001uby.3_Silent_p.V136V	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA.	161					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		TCCTAGGGGTGGCAGGATCCG	0.637000														47			19		3.32936e-07	3.36373e-07	1	1	0
RBBP6	5930	broad.mit.edu	37	16	24578724	24578724	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:24578724C>T	uc002dmh.3	+	14	2890	c.1850C>T	c.(1849-1851)tCa>tTa	p.S617L	RBBP6_uc010vcb.1_Missense_Mutation_p.S484L|RBBP6_uc002dmi.3_Missense_Mutation_p.S617L|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.S484L	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	617					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CCTTGGGTATCATCAGGAGTG	0.507000														201			49		0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18874996	18874996	+	Silent	SNP	T	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:18874996T>A	uc002guw.3	-	5	2315	c.2148A>T	c.(2146-2148)ggA>ggT	p.G716G	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	716										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ACCTAGGGGGTCCTGGGAAGC	0.622000														44			16		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203708954	203708954	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:203708954C>T	uc001gzw.3	+	20	4487	c.3590C>T	c.(3589-3591)tCt>tTt	p.S1197F	ATP2B4_uc001gzv.3_3'UTR|ATP2B4_uc001gzx.3_Missense_Mutation_p.S264F|ATP2B4_uc009xar.3_3'UTR	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	1233					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCGGACAGCTCTCTACAGAGC	0.458000														26			37		0	0	1	0	0
P2RY12	64805	broad.mit.edu	37	3	151055902	151055902	+	Silent	SNP	T	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:151055902T>A	uc003eyw.1	-	1	948	c.732A>T	c.(730-732)gtA>gtT	p.V244V	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY12_uc011boa.2_3'UTR|P2RY12_uc003eyx.1_Silent_p.V244V|P2RY12_uc021xga.1_Silent_p.V244V	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 12 (P2RY12), transcript variant 2, mRNA.	244					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	AAATAAAGAATACAGCAATGA	0.413000														56			31		0	0	1	0	0
LOC285501	285501	broad.mit.edu	37	4	178897055	178897055	+	RNA	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:178897055G>A	uc010iru.3	+	4		c.720G>A								Homo sapiens uncharacterized LOC285501 (LOC285501), non-coding RNA.														all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236)		all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884)		AGAGCCTACAGAATGTGTCTG	0.398000														110			32		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39535042	39535042	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:39535042C>T	uc003xni.3	+	14	1673	c.1618C>T	c.(1618-1620)Cct>Tct	p.P540S	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.P516S	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	540	Cys-rich.				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)			ACAACCATTACCTTGTGAACG	0.308000														25			22		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119115986	119115986	+	Nonsense_Mutation	SNP	A	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:119115986A>T	uc004bjn.3	+	16	4642	c.4261A>T	c.(4261-4263)Aaa>Taa	p.K1421*	PAPPA_uc011lxq.2_Nonsense_Mutation_p.K796*	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1421	Sushi 4.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACCTCCACCAAAATTCCATGG	0.527000														92			32		0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33690964	33690964	+	Splice_Site	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:33690964C>T	uc010jvf.2	-	7	1302	c.766_splice	c.e7-1	p.V256_splice	IP6K3_uc003ofb.2_Splice_Site_p.V256_splice	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	256					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						GTTTGATAAACCTTACATTAA	0.358000														33			8		0	0	1	0	0
PDE8A	5151	broad.mit.edu	37	15	85666319	85666319	+	Silent	SNP	G	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:85666319G>T	uc002blh.3	+	18	2169	c.1980G>T	c.(1978-1980)ggG>ggT	p.G660G	PDE8A_uc021stv.1_Silent_p.G588G|PDE8A_uc002bli.3_Silent_p.G614G|PDE8A_uc010bnc.3_Silent_p.G413G|PDE8A_uc010bnd.3_Silent_p.G413G|PDE8A_uc002blj.3_Silent_p.G280G|PDE8A_uc002blk.3_Silent_p.G280G|PDE8A_uc002bll.3_Silent_p.G12G	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	660	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TGCGCCAGGGGATTATCGACA	0.423000														76			16		1.5739e-10	1.60047e-10	1	1	0
RFX6	222546	broad.mit.edu	37	6	117245850	117245850	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:117245850G>A	uc003pxm.3	+	14	1637	c.1574G>A	c.(1573-1575)cGa>cAa	p.R525Q		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	525					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.R525Q(2)|p.R525*(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CATTTGATTCGAATGCTTCTC	0.383000														86			20		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168123363	168123363	+	Missense_Mutation	SNP	C	T	T	rs142215582	byFrequency	TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:168123363C>T	uc010jjg.3	-	27	3457	c.3037G>A	c.(3037-3039)Gaa>Aaa	p.E1013K	SLIT3_uc003mab.3_Missense_Mutation_p.E1006K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1006	EGF-like 3.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCATTGTTTTCGCAGTCGTTG	0.547000														92			18		0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17218782	17218782	+	Splice_Site	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:17218782C>T	uc003wxm.3	-	4	550	c.311_splice	c.e4-1	p.V104_splice		NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	104							protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CCTCATATTTCACTGCAAGAA	0.443000														72			37		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60696363	60696363	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:60696363G>A	uc001nqi.3	+	3	990	c.797G>A	c.(796-798)cGg>cAg	p.R266Q	TMEM132A_uc001nqj.3_Missense_Mutation_p.R266Q|TMEM132A_uc001nqk.3_Missense_Mutation_p.R279Q|TMEM132A_uc001nql.1_Missense_Mutation_p.R279Q	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	266						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						ATGCCAGTGCGGCCCGGCCAG	0.672000														61			15		0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117185767	117185767	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:117185767G>A	uc004biy.4	-	6	944	c.304C>T	c.(304-306)Ccg>Tcg	p.P102S	DFNB31_uc004bix.3_Missense_Mutation_p.P134S|DFNB31_uc004biz.4_Missense_Mutation_p.P485S|DFNB31_uc004bja.4_Missense_Mutation_p.P485S	NM_001083885	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.	485					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGTCTTGCGGGGAAATGGTG	0.632000														73			17		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87029358	87029358	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:87029358C>T	uc009wcs.3	+	3	507	c.463C>T	c.(463-465)Cat>Tat	p.H155Y	CLCA4_uc009wct.3_Intron|CLCA4_uc009wcu.3_Intron	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	155						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ACTGTTTGTCCATGAGTGGGC	0.398000														46			16		0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26722384	26722384	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:26722384C>T	uc003xfc.1	-	0	539	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	ADRA1A_uc010lul.1_Missense_Mutation_p.G35S|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Missense_Mutation_p.G35S|ADRA1A_uc010lum.1_Missense_Mutation_p.G35S|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Missense_Mutation_p.G35S|ADRA1A_uc003xfh.1_Missense_Mutation_p.G35S|ADRA1A_uc022atd.1_Missense_Mutation_p.G35S	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	35					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	AGAATGAGGCCCCCCAAGATC	0.567000														289			67		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15276261	15276261	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:15276261G>A	uc002nan.3	-	30	5809	c.5733C>T	c.(5731-5733)atC>atT	p.I1911I		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1911					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGGCCGCCAGGATCAGTGCCG	0.572000														41			11		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33716453	33716453	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr13:33716453C>T	uc001uuw.3	-	3	507	c.381G>A	c.(379-381)agG>agA	p.R127R	STARD13_uc001uuu.3_Silent_p.R119R|STARD13_uc001uuv.3_Silent_p.R9R|STARD13_uc001uux.3_Silent_p.R92R|STARD13_uc010abh.1_Silent_p.R112R|STARD13_uc021rhz.1_Silent_p.R119R|STARD13_uc021ria.1_Silent_p.R9R	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	127					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTACCTTTTTCCTTTGGAAGT	0.388000														63			15		0	0	1	0	0
CCT7	10574	broad.mit.edu	37	2	73466833	73466833	+	Silent	SNP	G	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:73466833G>T	uc002siz.3	+	1	212	c.69G>T	c.(67-69)gtG>gtT	p.V23V	CCT7_uc010yrf.2_5'UTR|CCT7_uc010yrh.2_5'UTR|CCT7_uc010yrg.2_5'UTR|CCT7_uc010yri.2_Intron|CCT7_uc002sja.3_Intron	NM_006429	NP_001159757	Q99832	TCPH_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 7 (eta) (CCT7), transcript variant 1, mRNA.	23					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CCCAGCTTGTGAGTAACATCA	0.468000														32			7		0.000157383	0.000157989	1	1	0
CDC42BPB	9578	broad.mit.edu	37	14	103412809	103412809	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:103412809G>A	uc001ymi.1	-	27	3976	c.3744C>T	c.(3742-3744)atC>atT	p.I1248I	CDC42BPB_uc001ymj.1_Silent_p.I350I	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	1248	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ACGTACCCACGATGGCAGCTG	0.547000														53			9		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15079115	15079115	+	Splice_Site	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:15079115C>T	uc002naa.1	-	3	555	c.548_splice	c.e3+1	p.R183_splice	SLC1A6_uc010dzu.1_Splice_Site_p.R183_splice|SLC1A6_uc010xod.1_Intron|SLC1A6_uc002nab.3_Splice_Site_p.R183_splice|SLC1A6_uc002nac.3_Splice_Site_p.R183_splice|SLC1A6_uc002nad.1_Splice_Site_p.R183_splice	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	183					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	gttggcaCACCTGATCAGGTC	0.507000														11			3		0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21555550	21555551	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:21555550_21555551CC>TT	uc001vzp.3	+	20	4344_4345	c.4315_4316CC>TT	c.(4315-4317)ccg>TTg	p.P1439L	ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_Intron	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	1439					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CGGCCTTTCGCCGGGAGCCTGC	0.698000														58			20		0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90167737	90167737	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:90167737A>C	uc002boe.3	+	19	4196	c.4196A>C	c.(4195-4197)cAg>cCg	p.Q1399P	C15orf42_uc021sug.1_Missense_Mutation_p.Q1398P	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1399					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GTGGAGTGTCAGCCTGATGCC	0.577000														132			40		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164323	150164323	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:150164323C>T	uc003whj.3	+	1	867	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	179						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ATGAGCAGATCACCCAGGTGT	0.438000														107			45		0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4927425	4927425	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:4927425G>T	uc002gan.2	+	22	3648	c.3291G>T	c.(3289-3291)aaG>aaT	p.K1097N		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	1097					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CTGACCTCAAGGAGAGTGGGG	0.672000														69			21		3.08376e-08	3.13176e-08	1	1	0
KIAA1841	84542	broad.mit.edu	37	2	61300669	61300669	+	Missense_Mutation	SNP	G	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:61300669G>C	uc002saw.4	+	4	717	c.414G>C	c.(412-414)atG>atC	p.M138I	KIAA1841_uc002sax.4_Intron|KIAA1841_uc002say.3_Missense_Mutation_p.M138I|KIAA1841_uc002sav.4_Missense_Mutation_p.M138I	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	138										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GTGGAGAAATGACTGAAGAAT	0.328000														41			7		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166019296	166019296	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:166019296T>G	uc002ucx.3	-	7	1229	c.737A>C	c.(736-738)aAg>aCg	p.K246T	SCN3A_uc002ucy.3_Missense_Mutation_p.K246T|SCN3A_uc002ucz.3_Missense_Mutation_p.K246T|SCN3A_uc002uda.1_Missense_Mutation_p.K115T|SCN3A_uc002udb.1_Missense_Mutation_p.K115T	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	246						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATCAGAAAGCTTCTTTACCGA	0.458000														146			20		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144994260	144994260	+	Silent	SNP	C	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:144994260C>A	uc003zaf.1	-	31	10310	c.10140G>T	c.(10138-10140)gtG>gtT	p.V3380V	PLEC_uc003zab.1_Silent_p.V3243V|PLEC_uc003zac.1_Silent_p.V3247V|PLEC_uc003zad.2_Silent_p.V3243V|PLEC_uc003zae.1_Silent_p.V3211V|PLEC_uc003zag.1_Silent_p.V3221V|PLEC_uc003zah.2_Silent_p.V3229V|PLEC_uc003zaj.2_Silent_p.V3270V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3380	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.P3379A(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGAAGCCACCCACGGGGACCT	0.632000														58			39		6.97489e-18	7.139e-18	1	1	0
DPP3	10072	broad.mit.edu	37	11	66254125	66254125	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:66254125C>T	uc001oig.1	+	3	537	c.475C>T	c.(475-477)Cga>Tga	p.R159*	DPP3_uc001oif.1_Nonsense_Mutation_p.R159*|DPP3_uc010rpe.1_Nonsense_Mutation_p.R148*	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	159					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GCCAAGGCTTCGACACCTCGG	0.622000														73			24		0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24845892	24845892	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:24845892C>T	uc001wpc.3	+	8	2770	c.2449C>T	c.(2449-2451)Cct>Tct	p.P817S	NFATC4_uc010alr.3_Intron|NFATC4_uc010tok.2_Missense_Mutation_p.P880S|NFATC4_uc010tol.2_Missense_Mutation_p.P880S|NFATC4_uc010too.2_Intron|NFATC4_uc010tom.2_Missense_Mutation_p.P830S|NFATC4_uc010ton.2_Missense_Mutation_p.P830S|NFATC4_uc010toq.2_Intron|NFATC4_uc010alt.3_Missense_Mutation_p.P849S|NFATC4_uc010top.2_Missense_Mutation_p.P849S|NFATC4_uc010tor.2_Intron|NFATC4_uc010tos.2_Missense_Mutation_p.P747S|NFATC4_uc010tot.2_Missense_Mutation_p.P805S|NFATC4_uc010tou.2_Missense_Mutation_p.P747S|NFATC4_uc010tov.2_Intron|NFATC4_uc010tow.2_Intron|NFATC4_uc010alv.3_Missense_Mutation_p.P805S|NFATC4_uc010tox.2_Missense_Mutation_p.P747S|NFATC4_uc001wpd.3_Missense_Mutation_p.P352S|NFATC4_uc010toy.2_Intron|NFATC4_uc010toz.2_Missense_Mutation_p.P352S|NFATC4_uc010tpa.2_Missense_Mutation_p.P105S|NFATC4_uc010tpb.2_Missense_Mutation_p.P105S	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	817	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GCCTCCTCTTCCTGCATCCCC	0.642000														143			35		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39016011	39016011	+	Missense_Mutation	SNP	C	T	T	rs147058802		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:39016011C>T	uc002oit.3	+	70	10625	c.10495C>T	c.(10495-10497)Cgg>Tgg	p.R3499W	RYR1_uc002oiu.3_Missense_Mutation_p.R3494W|RYR1_uc002oiv.1_Missense_Mutation_p.R414W|RYR1_uc010xuf.1_Missense_Mutation_p.R419W	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3499					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAAGAAGCGCCGGGGGGACCG	0.632000														75			18		0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	619080	619080	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:619080C>T	uc001lql.3	-	12	1746	c.1479G>A	c.(1477-1479)acG>acA	p.T493T	CDHR5_uc001lqj.3_Silent_p.T493T|CDHR5_uc009ycd.3_Silent_p.T487T|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Silent_p.T327T	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	493					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CAGAGCTGGTCGTGGAGGGTC	0.677000														32			12		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831691	61831691	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:61831691G>A	uc001jky.3	-	36	9286	c.8948C>T	c.(8947-8949)tCg>tTg	p.S2983L	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2983					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGAAATGCCGACTGTTCACA	0.418000														67			22		0	0	1	0	0
PITPNA	5306	broad.mit.edu	37	17	1438746	1438746	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:1438746G>A	uc021tng.1	-	7	779	c.523C>T	c.(523-525)Ccc>Tcc	p.P175S	PITPNA_uc021tnf.1_Missense_Mutation_p.P84S|PITPNA_uc010cjt.3_Missense_Mutation_p.P59S	NM_006224	NP_006215	Q00169	PIPNA_HUMAN	Homo sapiens phosphatidylinositol transfer protein, alpha (PITPNA), mRNA.	175					axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		TTCCAATTGGGGCCCAAGGGT	0.567000														29			7		0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100933480	100933480	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:100933480C>T	uc001pgh.2	-	3	2653	c.1910G>A	c.(1909-1911)cGa>cAa	p.R637Q	PGR_uc001pgg.2_Missense_Mutation_p.R18Q|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	637					cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TTTAAATTTTCGACCTACAGA	0.358000														48			9		0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24848308	24848308	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:24848308G>A	uc003neo.1	-	11	1198	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	FAM65B_uc011djs.1_Missense_Mutation_p.S370F|FAM65B_uc011dju.2_Missense_Mutation_p.S375F|FAM65B_uc003nep.3_Missense_Mutation_p.S341F|FAM65B_uc011djt.2_Missense_Mutation_p.S341F	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	Homo sapiens family with sequence similarity 65, member B (FAM65B), transcript variant 1, mRNA.	341					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	p.M340I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GCTGTACATGGACATTCTCCT	0.527000														27			7		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141544026	141544026	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:141544026C>T	uc010ioj.3	-	20	3396	c.3124G>A	c.(3124-3126)Gaa>Aaa	p.E1042K		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	1042						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTGGGGTCTTCGCTGAACATG	0.527000														8			4		0	0	1	0	0
EIF1AX	1964	broad.mit.edu	37	X	20156729	20156729	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:20156729T>C	uc004czt.3	-	1	236	c.28A>G	c.(28-30)Aaa>Gaa	p.K10E	SCARNA9L_uc010nfp.3_5'Flank	NM_001412	NP_001403	P47813	IF1AX_HUMAN	Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.	10						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CGTCTGTTTTTACCTCCTTTA	0.308000														70			31		0	0	1	0	0
DHODH	1723	broad.mit.edu	37	16	72055184	72055184	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:72055184G>A	uc002fbp.3	+	4	700	c.679G>A	c.(679-681)Gcc>Acc	p.A227T		NM_001361	NP_001352	Q02127	PYRD_HUMAN	Homo sapiens dihydroorotate dehydrogenase (quinone) (DHODH), nuclear gene encoding mitochondrial protein, mRNA.	227					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	TCAGGGAAAGGCCGAGCTGCG	0.682000														14			3		0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46901911	46901911	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:46901911C>T	uc002zhi.3	+	12	2207	c.2186C>T	c.(2185-2187)cCa>cTa	p.P729L	COL18A1_uc002zhg.3_Missense_Mutation_p.P549L	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	964	Nonhelical region 1 (NC1).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GAGGGGCCCCCAGGAAGGACT	0.627000														30			10		0	0	1	0	0
EN1	2019	broad.mit.edu	37	2	119604321	119604321	+	Silent	SNP	C	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:119604321C>G	uc002tlm.3	-	0	1439	c.423G>C	c.(421-423)cgG>cgC	p.R141R		NM_001426	NP_001417	Q05925	HME1_HUMAN	Homo sapiens engrailed homeobox 1 (EN1), mRNA.	141					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						CACGCTCGACCCGGCCTCCTC	0.706000														34			4		0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79837979	79837979	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:79837979A>C	uc001sys.3	+	10	1726	c.1055A>C	c.(1054-1056)cAa>cCa	p.Q352P	SYT1_uc001syt.3_Missense_Mutation_p.Q352P|SYT1_uc001syu.3_Missense_Mutation_p.Q349P|SYT1_uc001syv.3_Missense_Mutation_p.Q352P	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	352	C2 2.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CCTTTTGAACAAATCCAGGTA	0.358000														144			35		0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798326	55798326	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:55798326C>T	uc010riw.2	+	0	432	c.432C>T	c.(430-432)ttC>ttT	p.F144F		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C143*(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTGTCTGCTTCATTGTGTTGG	0.458000														149			40		0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38308998	38308998	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:38308998G>A	uc010gnb.3	-	4	2161	c.747C>T	c.(745-747)tcC>tcT	p.S249S	HLCS_uc021wjb.1_Silent_p.S249S|HLCS_uc002yvs.3_Silent_p.S249S|HLCS_uc010gnc.2_Silent_p.S396S	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	249					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CAAAGGTGAAGGATGAAGACA	0.522000														41			12		0	0	1	0	0
SIRT5	23408	broad.mit.edu	37	6	13592122	13592122	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:13592122C>T	uc003nay.3	+	4	783	c.471C>T	c.(469-471)atC>atT	p.I157I	SIRT5_uc003naw.3_Silent_p.I157I|SIRT5_uc003nax.3_Silent_p.I49I|SIRT5_uc011dit.2_Silent_p.I157I	NM_012241	NP_001229756	Q9NXA8	SIRT5_HUMAN	Homo sapiens sirtuin 5 (SIRT5), transcript variant 1, mRNA.	157	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	TTCTGGAGATCCATGGTGAGA	0.597000														24			6		0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61011251	61011251	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:61011251C>T	uc010qif.1	-	12	1850	c.1784G>A	c.(1783-1785)cGg>cAg	p.R595Q	FAM13C_uc010qid.2_Intron|FAM13C_uc001jkn.3_Intron|FAM13C_uc001jko.3_Intron|FAM13C_uc010qie.2_Intron	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	0										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AAAAAGTCACCGTTCCTGCAA	0.358000														44			13		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10295939	10295939	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:10295939C>T	uc002gmm.2	-	37	5583	c.5488G>A	c.(5488-5490)Gaa>Aaa	p.E1830K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1830					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGTTCATTTTCAACCTCTCCT	0.453000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					151			39		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39788335	39788336	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:39788335_39788336CC>TT	uc021olt.1	+	30	4152_4153	c.4100_4101CC>TT	c.(4099-4101)tcc>tTT	p.S1367F	MACF1_uc021ols.1_Missense_Mutation_p.S1367F|MACF1_uc001cdc.2_Missense_Mutation_p.S1367F|MACF1_uc001cda.1_Missense_Mutation_p.S1275F|MACF1_uc009vvq.1_Missense_Mutation_p.S424F|MACF1_uc001cdb.1_Missense_Mutation_p.S454F	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1367					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|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)			CAGCAGAAATCCCCTGGCAAGC	0.470000														106			32		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47831650	47831650	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:47831650C>G	uc002zji.4	+	27	5770	c.5663C>G	c.(5662-5664)tCt>tGt	p.S1888C	PCNT_uc002zjj.3_Missense_Mutation_p.S1770C	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1888					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCGGCCCACTCTGCCGAGCTG	0.667000														35			11		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940116	68940116	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:68940116G>A	uc009xpn.1	-	6	1129	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	CTNNA3_uc001jmw.2_Missense_Mutation_p.R336C|CTNNA3_uc001jmx.4_Missense_Mutation_p.R336C|CTNNA3_uc009xpo.1_Missense_Mutation_p.R196C|CTNNA3_uc001jna.2_Missense_Mutation_p.R348C	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	336					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.R336C(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGAGCCTGGCGAATGGCGTTG	0.512000														52			19		0	0	1	0	0
ROM1	6094	broad.mit.edu	37	11	62381081	62381081	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:62381081G>A	uc001ntv.3	+	0	869	c.328G>A	c.(328-330)Ggt>Agt	p.G110S	EML3_uc001ntr.1_5'Flank|EML3_uc001nts.1_5'Flank|EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank|EML3_uc009yny.1_5'Flank	NM_000327	NP_000318	Q03395	ROM1_HUMAN	Homo sapiens retinal outer segment membrane protein 1 (ROM1), mRNA.	110					cell adhesion|visual perception	integral to plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						TGGCACGGCTGGTGGGGGGGG	0.682000														18			13		0	0	1	0	0
C17orf104	284071	broad.mit.edu	37	17	42744143	42744143	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:42744143C>T	uc002iha.3	+	4	1084	c.864C>T	c.(862-864)taC>taT	p.Y288Y	C17orf104_uc002igy.1_Silent_p.Y122Y|C17orf104_uc002igz.3_Silent_p.Y122Y|C17orf104_uc010wja.1_Non-coding_Transcript	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN	Homo sapiens chromosome 17 open reading frame 104 (C17orf104), mRNA.	288										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						TTGATATCTACCATTATGGAA	0.353000														33			10		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11101966	11101966	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:11101966C>T	uc010dxp.3	+	8	1746	c.1386C>T	c.(1384-1386)atC>atT	p.I462I	SMARCA4_uc010dxo.3_Silent_p.I462I|SMARCA4_uc002mqf.4_Silent_p.I462I|SMARCA4_uc002mqg.1_Silent_p.I462I|SMARCA4_uc010dxq.3_Silent_p.I462I|SMARCA4_uc010dxr.3_Silent_p.I462I|SMARCA4_uc002mqj.4_Silent_p.I462I|SMARCA4_uc010dxs.3_Silent_p.I462I|SMARCA4_uc002mqe.2_Silent_p.I462I	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	462	HSA.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGCAGAAGATCGAGCAGGAGC	0.667000			"""F, N, Mis"""		NSCLC									13			3		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121137202	121137202	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:121137202G>A	uc003eec.4	+	26	3457	c.3317G>A	c.(3316-3318)gGa>gAa	p.G1106E	STXBP5L_uc011bji.2_Missense_Mutation_p.G1082E	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	1106					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GCTTCGGCAGGAAAAGCATCC	0.473000														36			5		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16378205	16378205	+	Splice_Site	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:16378205G>A	uc001axx.4	+	14	1434	c.1298_splice	c.e14-1	p.G433_splice	CLCNKA_uc021ogl.1_Splice_Site_p.G80_splice|CLCNKA_uc021ogm.1_Splice_Site_p.G264_splice|CLCNKA_uc001axy.4_Splice_Site_p.G264_splice	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	433					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTGTGGCCAGGAGCTGCTATC	0.622000														94			35		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189705417	189705417	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:189705417G>A	uc011bsk.2	-	4	1385	c.997C>T	c.(997-999)Ctt>Ttt	p.L333F	LEPREL1_uc003fsg.3_Missense_Mutation_p.L152F	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	333					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGCATAGAAGATAGGCTTTG	0.463000														77			19		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22554979	22554979	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:22554979T>A	uc001wcz.1	+	1	165	c.105T>A	c.(103-105)agT>agA	p.S35R	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_5'UTR					SubName: Full=HADV23S1; Flags: Fragment;																		TGAAACAAAGTCCTCAATCTT	0.408000														32			9		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349913	100349913	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:100349913G>A	uc003uwj.3	+	13	2350	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	ZAN_uc003uwk.3_Missense_Mutation_p.E729K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	729	66 X heptapeptide repeats (approximate) (mucin-like domain).				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)			CATCCCCACAGAAAAATCCAC	0.522000														73			18		0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102791057	102791057	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:102791057C>T	uc002tbq.3	+	9	1320	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	IL1R1_uc010fix.3_Silent_p.F334F|IL1R1_uc002tbr.3_Silent_p.F334F	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	334					innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TCACTAATTTCCAGAAGCACA	0.303000														29			12		0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	A	A	rs104886003		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:178936091G>A	uc003fjk.3	+	9	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				51			16		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140723673	140723673	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:140723673G>A	uc003ljm.2	+	0	73	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.E25K	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	23					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCTGTGCGAAACAGGATC	0.567000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		176			56		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163360985	163360985	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:163360985G>A	uc002uch.2	-	5	1325	c.1096C>T	c.(1096-1098)Cga>Tga	p.R366*	KCNH7_uc002uci.3_Nonsense_Mutation_p.R359*	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	366					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTGTGTGTTCGATCTTTAACC	0.373000														126			59		0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40554830	40554830	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:40554830G>A	uc003xnr.3	-	3	429	c.283C>T	c.(283-285)Caa>Taa	p.Q95*	ZMAT4_uc003xns.3_Nonsense_Mutation_p.Q95*	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	95						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			ATTTTGCCTTGATAATGGGAA	0.517000														122			31		0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27121396	27121396	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:27121396C>G	uc002ylx.4	+	3	422	c.272C>G	c.(271-273)aCt>aGt	p.T91S	GABPA_uc002yly.4_Missense_Mutation_p.T91S	NM_001197297	NP_001184226	Q06546	GABPA_HUMAN	Homo sapiens GA binding protein transcription factor, alpha subunit 60kDa (GABPA), transcript variant 2, mRNA.	91					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						ACAGATGGAACTGTACAGCTT	0.303000														46			13		0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126916098	126916098	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:126916098G>A	uc003eji.1	+	1	810	c.570G>A	c.(568-570)tgG>tgA	p.W190*						RecName: Full=Putative uncharacterized protein C3orf56;											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CCTCAGAATGGGCCTCCAGGT	0.622000														29			13		0	0	1	0	0
REG3A	5068	broad.mit.edu	37	2	79384774	79384774	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:79384774C>T	uc002sod.2	-	3	732	c.384G>A	c.(382-384)atG>atA	p.M128I	REG3A_uc002soe.2_Missense_Mutation_p.M128I|REG3A_uc002sof.2_Missense_Mutation_p.M128I	NM_138938	NP_620355	Q06141	REG3A_HUMAN	Homo sapiens regenerating islet-derived 3 alpha (REG3A), transcript variant 2, mRNA.	128	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.V127L(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CAAAGTAATTCATCACATCAC	0.547000														93			19		0	0	1	0	0
STATH	6779	broad.mit.edu	37	4	70864163	70864163	+	Silent	SNP	C	T	T	rs144461948		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:70864163C>T	uc003heu.1	+	1	119	c.9C>T	c.(7-9)ttC>ttT	p.F3F	STATH_uc003hev.1_Silent_p.F3F	NM_003154	NP_003145	P02808	STAT_HUMAN	Homo sapiens statherin (STATH), transcript variant 1, mRNA.	3					biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel	p.F3F(2)		lung(2)|skin(1)	3						CTATGAAGTTCCTTGTCTTTG	0.378000														60			23		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20490539	20490539	+	RNA	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:20490539C>T	uc001ytf.1	+	3		c.519C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		GGTAGTGGATCCAAAGGCATG	0.443000														420			34		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22573960	22573960	+	Missense_Mutation	SNP	G	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:22573960G>C	uc001wdb.2	+	1	217	c.180G>C	c.(178-180)tgG>tgC	p.W60C	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron					SubName: Full=cDNA FLJ59026;																		GGTACAGATGGGAAACTGCAA	0.448000														15			3		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13737583	13737583	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:13737583G>A	uc003jfd.2	-	65	11275	c.11233C>T	c.(11233-11235)Cat>Tat	p.H3745Y	DNAH5_uc003jfc.2_Intron	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3745	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCATCAGATGAGTTCTTTCT	0.373000									Kartagener syndrome					44			14		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39581320	39581320	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:39581320C>T	uc003xni.3	+	18	2126	c.2071C>T	c.(2071-2073)Ctg>Ttg	p.L691L	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Silent_p.L667L	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	691					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)			CTGGTTTATTCTGAGTTTCTG	0.328000														72			22		0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98073443	98073443	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:98073443C>T	uc011bgv.2	+	0	746	c.746C>T	c.(745-747)tCa>tTa	p.S249L		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CTCTCTGTCTCAATATTTTAC	0.358000														79			23		0	0	1	0	0
LEFTY1	10637	broad.mit.edu	37	1	226074672	226074672	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:226074672G>A	uc001hpo.3	-	3	936	c.856C>T	c.(856-858)Ccg>Tcg	p.P286S	PYCR2_uc010pvj.2_3'UTR	NM_020997	NP_066277	O75610	LFTY1_HUMAN	Homo sapiens left-right determination factor 1 (LEFTY1), mRNA.	286					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	p.P286P(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					AGGAAGCCCGGGGGCTCCAGC	0.662000														20			5		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62551076	62551076	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:62551076C>T	uc001xfu.1	+	4	1794	c.1597C>T	c.(1597-1599)Cga>Tga	p.R533*	SYT16_uc010tse.1_Nonsense_Mutation_p.R91*	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	533	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CAGCCATTTCCGAAACCTCGC	0.537000														47			10		0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203198762	203198762	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:203198762C>T	uc001gzn.2	-	0	99	c.3G>A	c.(1-3)atG>atA	p.M1I	CHIT1_uc001gzm.1_Intron|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Missense_Mutation_p.M11I	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	1					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CAGACCGCACCATGATGCAGC	0.622000														22			7		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232538146	232538146	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:232538146G>A	uc001hvg.3	-	19	5172	c.5014C>T	c.(5014-5016)Ctt>Ttt	p.L1672F	SIPA1L2_uc001hvf.3_Missense_Mutation_p.L728F	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1672					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACCTTCCGAAGGTCGGTCTGG	0.398000														25			24		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82416062	82416062	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:82416062C>T	uc001dit.4	+	6	1569	c.1388C>T	c.(1387-1389)cCc>cTc	p.P463L	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.P463L|LPHN2_uc001div.3_Missense_Mutation_p.P463L|LPHN2_uc009wcd.3_Missense_Mutation_p.P463L|LPHN2_uc001diw.3_Missense_Mutation_p.P34L	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	463					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATATTTTTCCCCTGCCAGAG	0.458000														29			23		0	0	1	0	0
SWI5	375757	broad.mit.edu	37	9	131038500	131038500	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:131038500C>T	uc004bup.3	+	0	76	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	GOLGA2_uc011maw.2_5'Flank|GOLGA2_uc010mxw.3_5'Flank|GOLGA2_uc004bul.1_5'Flank|SWI5_uc010mxx.1_Missense_Mutation_p.R26W	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	Homo sapiens SWI5 recombination repair homolog (yeast) (SWI5), mRNA.	26					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										CCGCCCACCTCGGGAGAGGGG	0.672000														42			8		0	0	1	0	0
GOT1	2805	broad.mit.edu	37	10	101166509	101166509	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:101166509G>A	uc001kpr.3	-	2	606	c.398C>T	c.(397-399)cCt>cTt	p.P133L	GOT1_uc009xwi.2_3'UTR	NM_002079	NP_002070	P17174	AATC_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) (GOT1), mRNA.	133					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CACATAGACAGGTGTGTTCTT	0.473000														35			9		0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33501375	33501375	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:33501375G>A	uc002hja.3	+	13	2048	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K	UNC45B_uc002hjb.3_Missense_Mutation_p.E649K|UNC45B_uc002hjc.3_Missense_Mutation_p.E649K|UNC45B_uc010cto.3_Missense_Mutation_p.E570K	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	651					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CCAGACCAAGGAGCTGCTGGC	0.602000														51			17		0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723737	48723737	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:48723737G>A	uc001rrm.3	+	0	975	c.663G>A	c.(661-663)gtG>gtA	p.V221V		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.	221					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GACAGGCCGTGAAGGAAGACA	0.667000														13			6		0	0	1	0	0
CES4A	283848	broad.mit.edu	37	16	67038069	67038069	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:67038069C>T	uc002eqv.3	+	8	1206	c.1091C>T	c.(1090-1092)tCa>tTa	p.S364L	CES4A_uc010vix.2_Missense_Mutation_p.S341L|CES4A_uc002eqw.3_Missense_Mutation_p.S341L|CES4A_uc010viy.2_Missense_Mutation_p.S247L|CES4A_uc002eqx.3_Missense_Mutation_p.S147L|CES4A_uc002eqy.3_Missense_Mutation_p.S243L	NM_001190201	NP_001177130	Q5XG92	EST4A_HUMAN	Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.	341						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						GGGAAGGTTTCATCTGTGCCC	0.493000														111			34		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5485193	5485193	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:5485193C>T	uc002gci.3	-	2	1193	c.638G>A	c.(637-639)gGa>gAa	p.G213E	NLRP1_uc002gcg.1_Missense_Mutation_p.G213E|NLRP1_uc002gch.4_Missense_Mutation_p.G213E|NLRP1_uc002gck.3_Missense_Mutation_p.G213E|NLRP1_uc002gcj.3_Missense_Mutation_p.G213E|NLRP1_uc002gcl.3_Missense_Mutation_p.G213E|NLRP1_uc010clh.3_Missense_Mutation_p.G213E	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	213					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTAGTAAATTCCTGACGTTTC	0.602000														97			31		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90502088	90502089	+	Missense_Mutation	DNP	GG	AA	AA	rs139269965		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:90502088_90502089GG>AA	uc004app.4	+	3	2721_2722	c.2686_2687GG>AA	c.(2686-2688)gga>AAa	p.G896K	FAM75E1_uc004apo.1_Missense_Mutation_p.G708K	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	896						integral to membrane											CATTTTCCTGGGAAAACGTCCT	0.594000														34			20		0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4647081	4647081	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:4647081C>T	uc002fyu.2	+	5	1347	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	ZMYND15_uc002fyv.2_Silent_p.L439L|ZMYND15_uc002fyt.2_Silent_p.L439L	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	439							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						ACCAGCTTCTCCAGGGAGACG	0.632000														26			11		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39879565	39879565	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:39879565G>A	uc001zkh.3	+	7	1317	c.1138G>A	c.(1138-1140)Gat>Aat	p.D380N	THBS1_uc010bbi.3_5'Flank	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	380	TSP type-1 1.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTCTGCGGACGATGGCTGGTC	0.572000														35			16		0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537407	5537408	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:5537407_5537408CC>TT	uc001maz.4	-	0	549_550	c.264_265GG>AA	c.(262-267)aggggc>agAAgc	p.G89S	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	89	Ubiquitin-like.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TCCATGATGCCCCTCTGGCTCA	0.530000														79			10		0	0	1	0	0
T-Cell_Receptor_V-alpha_region	0	broad.mit.edu	37	14	22409795	22409795	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:22409795G>A	uc021rpl.1	+	1	328	c.285G>A	c.(283-285)gaG>gaA	p.E95E	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc001wck.3_Silent_p.E95E					SubName: Full=V-alpha 22; Flags: Precursor; Fragment;																		TCCACTTGGAGAAAGGCTCAG	0.507000														62			15		0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31497517	31497517	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:31497517C>T	uc002ecf.4	+	4	514	c.495C>T	c.(493-495)ttC>ttT	p.F165F	SLC5A2_uc010car.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	165					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GAGCTGTATTCATCCAGCAGG	0.607000														60			16		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9391729	9391729	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:9391729C>T	uc021wam.1	+	20	2024	c.2009C>T	c.(2008-2010)tCg>tTg	p.S670L	PLCB4_uc010gbw.1_Missense_Mutation_p.S670L|PLCB4_uc010gbx.3_Missense_Mutation_p.S682L|PLCB4_uc021wal.1_Missense_Mutation_p.S670L|PLCB4_uc002wnh.3_Missense_Mutation_p.S517L	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	670	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.S670L(2)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TATAATGGATCGTGCGGGTGA	0.363000														56			10		0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203017437	203017437	+	Splice_Site	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:203017437G>A	uc009xaj.3	+	14	1665	c.1665_splice	c.e14+1	p.R555_splice	PPFIA4_uc010pqf.2_Splice_Site_p.R115_splice|PPFIA4_uc001gyz.3_5'Flank|PPFIA4_uc001gza.3_5'Flank			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	102	SAM 3.				cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GAGCTGGCACGGGTGAGGGCA	0.687000														19			14		0	0	1	0	0
ERMAP	114625	broad.mit.edu	37	1	43300731	43300731	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:43300731C>T	uc001cic.1	+	4	726	c.456C>T	c.(454-456)tcC>tcT	p.S152S	ERMAP_uc010ojw.1_Silent_p.S213S|ERMAP_uc001cid.1_Non-coding_Transcript|ERMAP_uc001cie.1_Silent_p.S152S|ERMAP_uc001cif.1_Silent_p.S62S	NM_001017922	NP_061008	Q96PL5	ERMAP_HUMAN	Homo sapiens erythroblast membrane-associated protein (Scianna blood group) (ERMAP), transcript variant 1, mRNA.	152			Missing (in Sc-3 allele).			integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGAGTCTCTCCCCCTCAGCAG	0.537000														74			30		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142178153	142178153	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:142178153C>T	uc003yvy.3	+	12	1842	c.1564C>T	c.(1564-1566)Cac>Tac	p.H522Y	DENND3_uc010mep.3_Missense_Mutation_p.H483Y|DENND3_uc003yvz.1_Missense_Mutation_p.H206Y	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	522										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|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;0.105)			TCCCGAAATCCACTTTCCGCT	0.512000														165			38		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767386	57767386	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:57767386G>A	uc002yan.3	+	0	1312	c.1312G>A	c.(1312-1314)Ggc>Agc	p.G438S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	438						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTCCAAACAGGGCAGCATCGA	0.682000														26			10		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54520229	54520229	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:54520229C>T	uc002iun.1	+	8	1078	c.1043C>T	c.(1042-1044)tCg>tTg	p.S348L		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	348	Fibronectin type-III.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GTTCAAGTCTCGGCTTACAAT	0.438000														63			12		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897918	36897918	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:36897918C>T	uc003cgj.3	-	11	3411	c.3163G>A	c.(3163-3165)Gaa>Aaa	p.E1055K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1055					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCAGCTTTTTCCCAGTAAACG	0.537000														29			8		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692713	135692713	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:135692713G>A	uc003lbn.2	-	1	585	c.363C>T	c.(361-363)atC>atT	p.I121I	TRPC7_uc010jef.2_Silent_p.I112I|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.I121I|TRPC7_uc010jei.2_Silent_p.I121I	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	121					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.R120C(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGCCTCCACGATGCGCACAT	0.657000														44			16		0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209358099	209358099	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:209358099G>A	uc010zjb.2	+	12	1687	c.1401G>A	c.(1399-1401)acG>acA	p.T467T	PTH2R_uc002vdb.3_Silent_p.T456T|PTH2R_uc010fuo.1_Intron	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	456						integral to plasma membrane	parathyroid hormone receptor activity	p.A466A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		CCACCGTGACGCACAGCACCA	0.607000														39			11		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17672607	17672607	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:17672607G>A	uc001baj.2	+	8	1048	c.1020G>A	c.(1018-1020)gaG>gaA	p.E340E	PADI4_uc009vpc.2_Silent_p.E340E	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	340					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)	GCCCTGAGGAGGAGAACATGG	0.552000														34			19		0	0	1	0	0
PTDSS2	81490	broad.mit.edu	37	11	489424	489424	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:489424C>T	uc001lpj.3	+	8	1055	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN	Homo sapiens phosphatidylserine synthase 2 (PTDSS2), mRNA.	293						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GGATCGCCTTCCAGTTCACGC	0.652000														28			8		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919558	4919558	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:4919558C>T	uc001qng.3	+	0	1217	c.351C>T	c.(349-351)ttC>ttT	p.F117F	KCNA6_uc021qtr.1_Silent_p.F117F	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	117						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGGACATTTTCCTGGAGGAGA	0.672000										HNSCC(72;0.22)				68			25		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26164846	26164846	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:26164846C>T	uc003abz.1	+	3	1213	c.963C>T	c.(961-963)ttC>ttT	p.F321F	MYO18B_uc003aca.1_Silent_p.F202F|MYO18B_uc010guy.1_Silent_p.F202F|MYO18B_uc010guz.1_Silent_p.F202F|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	321						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin 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						GGGGAGGTTTCCTGGGAAGAA	0.532000														20			4		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052942	44052942	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:44052942G>A	uc001jaw.4	-	1	1239	c.586C>T	c.(586-588)Cca>Tca	p.P196S	ZNF239_uc001jax.4_Missense_Mutation_p.P196S|ZNF239_uc009xmj.3_Missense_Mutation_p.P196S|ZNF239_uc009xmk.3_Missense_Mutation_p.P196S|ZNF239_uc021pph.1_Missense_Mutation_p.P196S	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTCTCATATGGATGACCATCT	0.438000														96			17		0	0	1	0	0
INMT	11185	broad.mit.edu	37	7	30795321	30795321	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:30795321C>T	uc003tbs.1	+	2	662	c.646C>T	c.(646-648)Ctg>Ttg	p.L216L	FAM188B_uc010kwe.3_Intron|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Silent_p.L215L	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	216						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CTGCGTGGCCCTGGAGAAAGA	0.587000														63			24		0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109031471	109031471	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:109031471G>A	uc003dxo.3	-	2	349	c.102C>T	c.(100-102)gaC>gaT	p.D34D		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	34						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCATATTTGCGTCATCTTTAA	0.413000														137			39		0	0	1	0	0
MGAT1	4245	broad.mit.edu	37	5	180219443	180219443	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:180219443G>A	uc003mmg.4	-	1	1024	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	MGAT1_uc010jlf.3_Missense_Mutation_p.R177C|MGAT1_uc010jlg.3_Missense_Mutation_p.R177C|MGAT1_uc003mmh.4_Missense_Mutation_p.R177C|MGAT1_uc010jlh.3_Missense_Mutation_p.R177C|MGAT1_uc003mmi.4_Missense_Mutation_p.R177C|MGAT1_uc021yjn.1_Missense_Mutation_p.R177C	NM_002406	NP_002397	P26572	MGAT1_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT1), transcript variant 2, mRNA.	177					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGAACTTGCGGTGGTCCGGC	0.701000														69			31		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216591896	216591896	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:216591896C>T	uc001hku.1	-	2	998	c.611G>A	c.(610-612)gGg>gAg	p.G204E	USH2A_uc001hkv.3_Missense_Mutation_p.G204E	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	204					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGAATTCTCCCCAGTGTCAT	0.343000										HNSCC(13;0.011)				77			16		0	0	1	0	0
AGPAT1	10554	broad.mit.edu	37	6	32137789	32137789	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:32137789G>A	uc003oae.3	-	5	968	c.633C>T	c.(631-633)tcC>tcT	p.S211S	EGFL8_uc003nzy.2_Intron|AGPAT1_uc011dpk.2_Silent_p.S175S|AGPAT1_uc003oag.3_Silent_p.S101S|AGPAT1_uc003oah.3_Silent_p.S211S|AGPAT1_uc003oai.1_Silent_p.S211S|AGPAT1_uc011dpl.2_Silent_p.S99S	NM_006411	NP_116130	Q99943	PLCA_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) (AGPAT1), transcript variant 1, mRNA.	211					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						CTTGGTAGGAGGACATGACTA	0.562000														51			10		0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18943028	18943028	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:18943028G>A	uc002nkg.3	+	0	285	c.10G>A	c.(10-12)Gag>Aag	p.E4K	UPF1_uc002nkf.3_Missense_Mutation_p.E4K	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	4	Sufficient for interaction with RENT2.				DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CATGAGCGTGGAGGCGTACGG	0.711000														36			9		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53005026	53005026	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:53005026G>A	uc001sas.3	-	5	1107	c.1072C>T	c.(1072-1074)Caa>Taa	p.Q358*		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	358	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGCAGTCTTTGGATGAGACGG	0.552000														93			21		0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62645964	62645964	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:62645964C>T	uc001jli.3	-	7	1919	c.1481G>A	c.(1480-1482)gGa>gAa	p.G494E	RHOBTB1_uc009xpe.2_Missense_Mutation_p.G432E|RHOBTB1_uc001jlh.3_Missense_Mutation_p.G494E|RHOBTB1_uc001jlj.3_Missense_Mutation_p.G494E|RHOBTB1_uc001jlk.3_Missense_Mutation_p.G494E	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	494	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ACTGATGGCTCCATCGTCCAA	0.522000														57			30		0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867026	6867026	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:6867026T>C	uc001met.1	+	0	113	c.113T>C	c.(112-114)gTt>gCt	p.V38A		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATCTATTTGGTTACTCTGAAG	0.423000														226			80		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34100929	34100929	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:34100929G>A	uc003oir.4	-	0	708	c.345C>T	c.(343-345)gcC>gcT	p.A115A	GRM4_uc011dsn.2_Silent_p.A115A|GRM4_uc010jvh.3_Silent_p.A115A|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_Silent_p.A34A	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	115					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	ACTGCTCGAGGGCATGGGTGT	0.627000														23			8		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21501018	21501018	+	Splice_Site	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:21501018G>A	uc002kuq.3	+	61	8129	c.8043_splice	c.e61+1	p.S2681_splice	LAMA3_uc002kur.3_Splice_Site_p.S2625_splice|LAMA3_uc002kus.4_Splice_Site_p.S1072_splice|LAMA3_uc002kut.4_Splice_Site_p.S1016_splice	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2681	Laminin G-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)	GAGACCATTCGGTACACCTTT	0.383000														34			13		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119109484	119109484	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:119109484G>A	uc004bjn.3	+	14	4341	c.3960G>A	c.(3958-3960)ttG>ttA	p.L1320L	PAPPA_uc011lxq.2_Silent_p.L695L	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1320	Sushi 2.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGCACAATTGAAAGGTATCA	0.537000														51			17		0	0	1	0	0
LUC7L3	51747	broad.mit.edu	37	17	48823267	48823267	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:48823267C>T	uc002isq.3	+	7	1048	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	LUC7L3_uc010wmw.2_Missense_Mutation_p.R218C|LUC7L3_uc002isr.3_Missense_Mutation_p.R294C|LUC7L3_uc002iss.3_Missense_Mutation_p.R294C	NM_016424	NP_057508	O95232	LC7L3_HUMAN	Homo sapiens LUC7-like 3 (S. cerevisiae) (LUC7L3), transcript variant 1, mRNA.	294	Arg/Ser-rich.				RNA splicing|apoptosis|mRNA processing|response to stress	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AAAGAGAAGTCGTTCACGAAG	0.473000														26			11		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94049738	94049738	+	Missense_Mutation	SNP	T	A	A	rs407599		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:94049738T>A	uc003ung.1	+	35	2640	c.2169T>A	c.(2167-2169)aaT>aaA	p.N723K	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	723			Missing (in OI2A).		Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTGGCCCCAATGGATTTGCTG	0.448000										HNSCC(75;0.22)				62			19		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53002027	53002027	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:53002027C>T	uc001sas.3	-	8	1611	c.1576G>A	c.(1576-1578)Gga>Aga	p.G526R		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	526	Tail.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AAGGTCTTTCCCTGGGAGTCC	0.567000														132			42		0	0	1	0	0
KLK14	43847	broad.mit.edu	37	19	51582165	51582165	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:51582165G>A	uc021uyk.1	-	5	777	c.558C>T	c.(556-558)tcC>tcT	p.S186S	KLK14_uc002pvs.1_Silent_p.S186S	NM_022046	NP_071329	Q9P0G3	KLK14_HUMAN	Homo sapiens kallikrein-related peptidase 14 (KLK14), mRNA.	186	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CCTCATCCGGGGAGATGTTGA	0.587000														161			58		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627082	140627082	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:140627082G>A	uc003lje.3	+	0	1936	c.1936G>A	c.(1936-1938)Gac>Aac	p.D646N		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	646	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGTCAAGGACAATGGCGA	0.706000														80			18		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2127662	2127662	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:2127662G>A	uc002con.3	+	25	3007	c.2901G>A	c.(2899-2901)aaG>aaA	p.K967K	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.K967K|TSC2_uc002coo.3_Intron|TSC2_uc010uvv.2_Intron|TSC2_uc010uvw.2_Intron|TSC2_uc002cop.3_Intron	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	967					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AAGAATTCAAGGAGAGCTCTG	0.607000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					71			29		0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8168223	8168223	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:8168223C>T	uc002gkr.3	+	17	2201	c.2060C>T	c.(2059-2061)tCt>tTt	p.S687F	PFAS_uc010vuv.2_Missense_Mutation_p.S263F|PFAS_uc002gks.3_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	687					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTGGACCGCTCTGTGGGAGGC	0.642000														12			3		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133935613	133935613	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:133935613G>A	uc003ytw.3	+	21	4600	c.4559G>A	c.(4558-4560)gGc>gAc	p.G1520D	TG_uc010mdw.3_Missense_Mutation_p.G279D|TG_uc011ljb.2_5'UTR|TG_uc003ytx.1_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1520	Thyroglobulin type-1 11.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AACGAAGCAGGCCTGCAATGT	0.577000														51			9		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170062081	170062081	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:170062081G>A	uc002ues.3	-	40	7836	c.7623C>T	c.(7621-7623)ttC>ttT	p.F2541F		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2541					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGGGTACGCGGAAGTTTCCTC	0.488000														67			37		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56481962	56481962	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:56481962C>T	uc002qmh.3	+	5	2505	c.2434C>T	c.(2434-2436)Ctt>Ttt	p.L812F	NLRP8_uc010etg.3_Missense_Mutation_p.L812F	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	812						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGGCAATAATCTTCAAGGTAA	0.488000														144			54		0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46133237	46133237	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:46133237T>G	uc003oxz.1	-	2	1101	c.893A>C	c.(892-894)aAa>aCa	p.K298T	ENPP5_uc010jzc.1_Missense_Mutation_p.K298T|ENPP5_uc011dvz.1_Missense_Mutation_p.K204T|ENPP5_uc003oya.1_Missense_Mutation_p.K298T	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	298						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						AACGTCTTCTTTTTTGTAAAC	0.388000														139			40		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1271501	1271501	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:1271501G>A	uc001lta.3	+	30	13450	c.13391G>A	c.(13390-13392)gGa>gAa	p.G4464E		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4464	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.G4464E(2)|p.G4419E(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGCCCACCGGATCCACGGCC	0.672000														117			29		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71827915	71827915	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:71827915G>A	uc010fen.3	+	33	3981	c.3840G>A	c.(3838-3840)agG>agA	p.R1280R	DYSF_uc010fei.3_Silent_p.R1279R|DYSF_uc010feh.3_Silent_p.R1248R|DYSF_uc002sig.4_Silent_p.R1248R|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.R1293R|DYSF_uc010fee.3_Silent_p.R1262R|DYSF_uc010fef.3_Silent_p.R1279R|DYSF_uc002sie.3_Silent_p.R1262R|DYSF_uc010feo.3_Silent_p.R1294R|DYSF_uc010fej.3_Silent_p.R1249R|DYSF_uc010fel.3_Silent_p.R1249R|DYSF_uc010fem.3_Silent_p.R1263R|DYSF_uc002sif.3_Silent_p.R1263R|DYSF_uc010fek.3_Silent_p.R1280R|DYSF_uc010yqy.2_Silent_p.R143R|DYSF_uc010yqz.2_5'Flank	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1262						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						CACTGACGAGGGGCAGCCAGC	0.607000														107			34		0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108072559	108072559	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:108072559G>A	uc003dwz.3	+	3	764	c.350G>A	c.(349-351)gGa>gAa	p.G117E	HHLA2_uc011bhl.2_Missense_Mutation_p.G53E|HHLA2_uc010hpu.3_Missense_Mutation_p.G117E|HHLA2_uc003dwy.4_Missense_Mutation_p.G117E	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	117	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CTGGACGAAGGAATTTACACC	0.403000														40			13		0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150005421	150005421	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:150005421C>T	uc003qmu.1	-	3	1352	c.804G>A	c.(802-804)tgG>tgA	p.W268*	LATS1_uc010kif.1_Nonsense_Mutation_p.W163*|LATS1_uc003qmv.2_Nonsense_Mutation_p.W268*|LATS1_uc003qmw.3_Nonsense_Mutation_p.W268*|LATS1_uc010kig.1_Nonsense_Mutation_p.W163*	NM_004690	NP_004681	O95835	LATS1_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 1 (Drosophila) (LATS1), mRNA.	268					G2/M transition of mitotic cell cycle|cell division|cytoplasmic sequestering of protein|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AGTTTGGTTCCCATGAAGGGG	0.547000														135			53		0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125437562	125437562	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:125437562G>A	uc011lzb.2	+	0	154	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TATCCACTCTGATCCTCGACT	0.433000														152			39		0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18234310	18234310	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:18234310T>A	uc001rdq.3	-	5	627	c.433A>T	c.(433-435)Aac>Tac	p.N145Y		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	145	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TGGCATCGGTTTTCCAGTGCC	0.458000														71			18		0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54577307	54577307	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:54577307G>A	uc003jpx.3	-	11	2122	c.2002C>T	c.(2002-2004)Cga>Tga	p.R668*	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	668	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TCACAAGCTCGAGATTCCATC	0.378000														95			20		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093351	143093351	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:143093351G>A	uc003qjd.3	-	4	3268	c.2525C>T	c.(2524-2526)tCa>tTa	p.S842L		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	842					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGGGGCTTCTGAAATCTCACT	0.547000														34			15		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25433138	25433138	+	Splice_Site	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr13:25433138G>A	uc001upr.3	+	26	3652	c.3611_splice	c.e26-1	p.E1204_splice	RNF17_uc010tdd.1_Splice_Site_p.E1063_splice|RNF17_uc010tde.2_Splice_Site_p.E1200_splice|RNF17_uc010aab.3_Splice_Site|RNF17_uc001ups.3_Splice_Site_p.E1143_splice|RNF17_uc010aac.3_Splice_Site_p.E402_splice|RNF17_uc010aad.3_Splice_Site_p.E256_splice	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1204					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTTTTTTTCAGAATTTGAGCT	0.284000														15			6		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6153610	6153610	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:6153610C>A	uc001qnn.1	-	17	2539	c.2289G>T	c.(2287-2289)agG>agT	p.R763S	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	763					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGATAGGCTCCTTTTGCCTC	0.532000														27			7		1.06961e-07	1.08485e-07	1	1	0
MSR1	4481	broad.mit.edu	37	8	16001121	16001121	+	Splice_Site	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:16001121C>T	uc010lsu.3	-	8	1098	c.1034_splice	c.e8-1	p.G345_splice	MSR1_uc003wwz.3_Splice_Site_p.G327_splice|MSR1_uc003wxa.3_Splice_Site_p.G327_splice|MSR1_uc003wxb.3_Splice_Site_p.G327_splice|MSR1_uc011kxz.2_Splice_Site_p.G101_splice	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	327					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCAGAATTTCCTTGAGAAAAG	0.313000														45			32		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128294930	128294930	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:128294930C>T	uc003qbk.3	-	27	4376	c.4009G>A	c.(4009-4011)Gga>Aga	p.G1337R	PTPRK_uc010kfc.3_Missense_Mutation_p.G1344R|PTPRK_uc003qbj.3_Missense_Mutation_p.G1338R|PTPRK_uc011ebu.2_Missense_Mutation_p.G1360R	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1337	Tyrosine-protein phosphatase 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GAAGCCCATCCTAGGTACTGA	0.443000														90			20		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104126850	104126850	+	Missense_Mutation	SNP	G	A	A	rs147807697	by1000genomes	TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:104126850G>A	uc001tjw.3	+	50	5536	c.5350G>A	c.(5350-5352)Gac>Aac	p.D1784N	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1784	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.D1784N(2)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTGGCCCACCGACCAAGCCCT	0.522000														118			44		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33990587	33990587	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:33990587C>T	uc001bxm.1	-	65	10468	c.10291G>A	c.(10291-10293)Ggg>Agg	p.G3431R	CSMD2_uc001bxn.1_Missense_Mutation_p.G3287R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3287						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)				TGCTTCTTCCCCTGGTATTCA	0.512000														108			79		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6682195	6682195	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:6682195G>A	uc002mfm.3	-	33	4280	c.4218C>T	c.(4216-4218)tcC>tcT	p.S1406S		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1406					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CAGTCATCATGGATATGTCCA	0.542000														78			19		0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7950012	7950012	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:7950012C>T	uc002gju.3	+	8	1343	c.1227C>T	c.(1225-1227)acC>acT	p.T409T	ALOX15B_uc002gjv.3_Intron|ALOX15B_uc002gjw.3_Intron|ALOX15B_uc010vun.2_Silent_p.T409T|ALOX15B_uc010cnp.3_Silent_p.T215T	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	409	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CCCGATACACCCTGCACATCA	0.627000														24			9		0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231617	7231617	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:7231617G>A	uc010wzk.2	+	0	481	c.481G>A	c.(481-483)Gac>Aac	p.D161N		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	161								p.D161N(2)|p.A160A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ATGCTTCGCCGACCTCTCTAG	0.572000														77			14		0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32805546	32805546	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:32805546G>A	uc011dqf.1	-	1	587	c.465C>T	c.(463-465)gcC>gcT	p.A155A	TAP2_uc003ocb.1_Silent_p.A155A|TAP2_uc003occ.3_Silent_p.A155A|TAP2_uc003ocd.3_Silent_p.A155A	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	155	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										GGAAGAAGAAGGCGGCAACGA	0.552000														58			15		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23915199	23915199	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr13:23915199G>A	uc001uon.2	-	9	3405	c.2816C>T	c.(2815-2817)tCc>tTc	p.S939F	SACS_uc001uoo.2_Missense_Mutation_p.S792F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	939					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone 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)		TGTATAAGAGGAAATTCCCTG	0.363000														88			19		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120998980	120998980	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:120998980G>A	uc010rzo.2	+	7	2294	c.2294G>A	c.(2293-2295)tGg>tAg	p.W765*		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	765	VWFD 2.				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)		GGACCTGCTTGGCTGCGGGGA	0.592000														51			19		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904250	73904250	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:73904250G>A	uc011dyh.2	+	14	2316	c.1969G>A	c.(1969-1971)Gcc>Acc	p.A657T	KCNQ5_uc011dyi.2_Missense_Mutation_p.A648T|KCNQ5_uc010kat.3_Missense_Mutation_p.A629T|KCNQ5_uc003pgk.3_Missense_Mutation_p.A638T|KCNQ5_uc011dyj.2_Missense_Mutation_p.A528T|KCNQ5_uc011dyk.2_Missense_Mutation_p.A388T	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	638					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)		CTCTGCCTCAGCCCTCGCTTT	0.478000														60			15		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46998916	46998916	+	Silent	SNP	A	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:46998916A>C	uc001jec.3	+	2	171	c.36A>C	c.(34-36)gcA>gcC	p.A12A	GPRIN2_uc021ppt.1_Silent_p.A12A	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	12										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GTCCCTGGGCACCCCTGAGCC	0.662000														130			14		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10443321	10443321	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:10443321C>T	uc010coi.3	-	11	1199	c.1071G>A	c.(1069-1071)ggG>ggA	p.G357G	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.G357G|MYH2_uc010coj.3_Silent_p.G357G	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	357	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.T356K(1)		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						GCATCACAGCCCCCGTGAGCT	0.423000														174			53		0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40913497	40913497	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:40913497T>G	uc010bbs.1	+	10	1274	c.1113T>G	c.(1111-1113)aaT>aaG	p.N371K	CASC5_uc010ucq.1_Missense_Mutation_p.N195K|CASC5_uc001zme.3_Missense_Mutation_p.N345K|CASC5_uc010bbt.1_Missense_Mutation_p.N345K	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	371	Interaction with BUB1 and BUB1B.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAACTCAGAATGCCATGGATG	0.328000														75			22		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71444685	71444685	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:71444685C>T	uc001xmo.2	+	5	2077	c.1631C>T	c.(1630-1632)cCt>cTt	p.P544L	PCNX_uc001xmn.4_Missense_Mutation_p.P544L|PCNX_uc010are.1_Missense_Mutation_p.P544L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	544						integral to membrane		p.R543Q(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GATGTTCGACCTAAATCTTCT	0.463000														146			42		0	0	1	0	0
CEBPE	1053	broad.mit.edu	37	14	23588291	23588291	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:23588291C>T	uc001wiv.2	-	0	530	c.10G>A	c.(10-12)Ggg>Agg	p.G4R		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), epsilon (CEBPE), mRNA.	4						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TAGTAGGTCCCGTGGGACATG	0.701000														12			8		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55933887	55933887	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:55933887C>T	uc003pcs.3	-	21	2280	c.2048G>A	c.(2047-2049)gGa>gAa	p.G683E	COL21A1_uc010jzz.3_Missense_Mutation_p.G68E|COL21A1_uc011dxg.2_Missense_Mutation_p.G68E|COL21A1_uc011dxh.2_Missense_Mutation_p.G68E|COL21A1_uc003pcr.3_Missense_Mutation_p.E41K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	683	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCTGGTTCTCCTGGGGAACC	0.418000														15			4		0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153332598	153332598	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:153332598G>A	uc003ims.3	-	1	520	c.358C>T	c.(358-360)Cag>Tag	p.Q120*	FBXW7_uc011cii.2_Nonsense_Mutation_p.Q120*|FBXW7_uc003imt.3_Nonsense_Mutation_p.Q120*|FBXW7_uc003imu.3_Nonsense_Mutation_p.Q120*|FBXW7_uc021xsx.1_Nonsense_Mutation_p.Q120*|FBXW7_uc021xsy.1_Nonsense_Mutation_p.Q120*|FBXW7_uc021xsz.1_Nonsense_Mutation_p.Q120*|FBXW7_uc021xta.1_Nonsense_Mutation_p.Q120*|FBXW7_uc021xtb.1_Nonsense_Mutation_p.Q120*|FBXW7_uc021xtc.1_Nonsense_Mutation_p.Q120*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	120					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCACTCTCCTGGTCCATctcc	0.463000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""									57			13		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28966761	28966761	+	Silent	SNP	G	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:28966761G>C	uc002kwr.2	+	2	330	c.195G>C	c.(193-195)tcG>tcC	p.S65S	DSG4_uc002kwq.2_Silent_p.S65S	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	65	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGACAACTCGAAGAGGAACC	0.448000														68			29		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120977920	120977920	+	Silent	SNP	A	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:120977920A>G	uc003eec.4	+	17	2003	c.1863A>G	c.(1861-1863)ccA>ccG	p.P621P	STXBP5L_uc011bji.2_Silent_p.P621P	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	621					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAATGCCTCCAGGATATCAAG	0.378000														45			10		0	0	1	0	0
IL20RB	53833	broad.mit.edu	37	3	136714338	136714338	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:136714338G>A	uc003eri.2	+	5	1014	c.765G>A	c.(763-765)tgG>tgA	p.W255*	IL20RB_uc003erj.2_Non-coding_Transcript|IL20RB_uc010hud.2_Nonsense_Mutation_p.W113*	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	Homo sapiens interleukin 20 receptor beta (IL20RB), mRNA.	255						integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGTTCGTCTGGAAAATGGGCC	0.502000														234			65		0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165832235	165832235	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:165832235G>A	uc003qun.3	-	11	1101	c.856C>T	c.(856-858)Cgt>Tgt	p.R286C	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.R216C|PDE10A_uc003quo.3_Missense_Mutation_p.R296C	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	286	Allosteric effector binding.|GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGCGCACAACGATCGGCATTC	0.373000														39			16		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41978972	41978972	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:41978972C>T	uc001cgz.4	-	7	7133	c.5920G>A	c.(5920-5922)Gaa>Aaa	p.E1974K	HIVEP3_uc001cha.4_Missense_Mutation_p.E1974K|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1974					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)				CTGCCTGCTTCTTTGCTTGGG	0.617000														67			40		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35727852	35727852	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:35727852C>T	uc003jjo.3	+	20	3101	c.2990C>T	c.(2989-2991)cCt>cTt	p.P997L	SPEF2_uc003jjp.1_Missense_Mutation_p.P483L	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	997					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATACATCACCTGTTGCAATA	0.418000														92			25		0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103901026	103901026	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:103901026C>T	uc001kum.3	+	4	2800	c.2761C>T	c.(2761-2763)Cca>Tca	p.P921S	PPRC1_uc001kun.3_Missense_Mutation_p.P801S|PPRC1_uc010qqj.2_Missense_Mutation_p.P921S|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	921	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGCCCCCTTGCCATCCTGGCC	0.592000														72			16		0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30734616	30734616	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:30734616C>T	uc002wxj.2	+	8	1147	c.912C>T	c.(910-912)acC>acT	p.T304T	TM9SF4_uc010ztr.1_Silent_p.T230T|TM9SF4_uc010zts.1_Silent_p.T211T|TM9SF4_uc002wxk.2_Silent_p.T287T	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	304						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCATTCGGACCCTCCGGAAGG	0.547000														35			7		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42683150	42683150	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:42683150G>A	uc010ggo.3	+	4	903	c.863G>A	c.(862-864)gGa>gAa	p.G288E	TOX2_uc002xle.4_Missense_Mutation_p.G246E|TOX2_uc010ggp.3_Missense_Mutation_p.G246E|TOX2_uc002xlf.4_Missense_Mutation_p.G297E|TOX2_uc010zwk.2_Missense_Mutation_p.G166E	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GACAGCCTGGGAGAGGAACAG	0.567000														28			10		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2813624	2813624	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:2813624C>T	uc002crk.3	+	10	3644	c.3095C>T	c.(3094-3096)tCc>tTc	p.S1032F	SRRM2_uc002crj.1_Missense_Mutation_p.S936F|SRRM2_uc002crl.1_Missense_Mutation_p.S1032F|SRRM2_uc010bsu.1_Missense_Mutation_p.S936F	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1032	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TGCCCTGGATCCCTCTCTCTC	0.483000														109			35		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30831093	30831094	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:30831093_30831094CC>AT	uc003tbt.3	+	4	1053_1054	c.976_977CC>AT	c.(976-978)ccc>ATc	p.P326I	FAM188B_uc010kwe.3_Missense_Mutation_p.P297I	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	326										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGACAGGATGCCCTTGAAGCTC	0.634000														29			13		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103354185	103354185	+	Splice_Site	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:103354185C>T	uc001dum.3	-	62	4909	c.4591_splice	c.e62-1	p.G1531_splice	COL11A1_uc001duk.3_Splice_Site_p.G715_splice|COL11A1_uc001dul.3_Splice_Site_p.G1519_splice|COL11A1_uc001dun.3_Splice_Site_p.G1480_splice|COL11A1_uc009weh.3_Splice_Site_p.G1403_splice	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1519	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCAGCGGGTCCCTGTTAGAA	0.413000														42			12		0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197402345	197402345	+	Missense_Mutation	SNP	A	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:197402345A>C	uc003fyc.2	-	18	2871	c.2688T>G	c.(2686-2688)aaT>aaG	p.N896K	KIAA0226_uc003fyd.3_Missense_Mutation_p.N851K|KIAA0226_uc021xjw.1_5'Flank	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	896	Cys-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGTCATCCTCATTCTGACAGA	0.547000														201			60		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739977	119739977	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:119739977G>A	uc002tln.1	+	11	1186	c.1054G>A	c.(1054-1056)Ggg>Agg	p.G352R	MARCO_uc010yyf.1_Missense_Mutation_p.G274R	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	352	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGAAGCAAAGGGGACACAGG	0.582000														142			41		0	0	1	0	0
MBL1P	8512	broad.mit.edu	37	10	81680768	81680768	+	RNA	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:81680768G>A	uc021puw.1	+	3		c.611G>A			MBL1P_uc001kbg.1_Non-coding_Transcript					Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) pseudogene (LOC100288974), non-coding RNA.																		GGAAACACAGGGACTTCTGGA	0.597000														11			5		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36756934	36756934	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:36756934G>A	uc003cgi.2	-	4	2323	c.1832C>T	c.(1831-1833)cCc>cTc	p.P611L		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	611	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TTCGATCCAGGGGTGCTGAAG	0.552000														56			17		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166026969	166026969	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:166026969C>T	uc002ucx.3	-	3	846	c.354G>A	c.(352-354)agG>agA	p.R118R	SCN3A_uc002ucy.3_Silent_p.R118R|SCN3A_uc002ucz.3_Silent_p.R118R|SCN3A_uc002uda.1_5'Flank|SCN3A_uc002udb.1_5'Flank	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	118						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TAGCAATTTTCCTAACAGGGT	0.303000														42			14		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119106834	119106834	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:119106834C>T	uc004bjn.3	+	13	4005	c.3624C>T	c.(3622-3624)ttC>ttT	p.F1208F	PAPPA_uc011lxq.2_Silent_p.F583F	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1208					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCGTGCACTTCGCATGTGAGA	0.532000														113			31		0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1481873	1481873	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:1481873G>A	uc002ltb.1	-	14	2215	c.2153C>T	c.(2152-2154)aCc>aTc	p.T718I	C19orf25_uc010xgn.1_5'Flank|C19orf25_uc010dsk.3_5'Flank|C19orf25_uc010xgo.2_5'Flank|PCSK4_uc002lsz.2_Missense_Mutation_p.T205I|PCSK4_uc002lta.2_3'UTR	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	718					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GCCTCCGAGGGTCACGGCCAG	0.716000														16			5		0	0	1	0	0
FAM151B	167555	broad.mit.edu	37	5	79837533	79837533	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:79837533C>T	uc003kgv.2	+	5	856	c.713C>T	c.(712-714)tCc>tTc	p.S238F	FAM151B_uc010jal.2_Non-coding_Transcript	NM_205548	NP_991111	Q6UXP7	F151B_HUMAN	Homo sapiens family with sequence similarity 151, member B (FAM151B), mRNA.	238										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		GATAACTATTCCGTTGAAGAT	0.328000														28			5		0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50105096	50105096	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:50105096C>T	uc002poo.4	+	5	4694	c.4694C>T	c.(4693-4695)gCc>gTc	p.A1565V		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	744							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GACGAGGAGGCCGGCGAGAGT	0.667000														19			9		0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42449740	42449740	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:42449740C>T	uc002igt.1	-	29	3144	c.3112G>A	c.(3112-3114)Ggg>Agg	p.G1038R		NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	1038					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.E1037K(1)		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)	CATCACTCCCCCTCTTCATCA	0.582000														28			5		0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106034423	106034423	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:106034423G>A	uc004eml.3	+	5	1362	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E	RNF128_uc004emk.3_Missense_Mutation_p.G345E	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	371						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TCAGTACAGGGAACAGATGAA	0.458000														176			47		0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110442725	110442725	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:110442725C>T	uc003hzk.3	+	13	2506	c.2451C>T	c.(2449-2451)tcC>tcT	p.S817S	SEC24B_uc003hzl.3_Silent_p.S782S|SEC24B_uc011cfp.2_Silent_p.S847S|SEC24B_uc011cfq.2_Silent_p.S816S|SEC24B_uc011cfr.2_Silent_p.S781S	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	817					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGTTACCTTCCTTGGGTGCAG	0.413000														41			15		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411750	51411750	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:51411750C>T	uc001nhi.2	-	0	699	c.646G>A	c.(646-648)Gga>Aga	p.G216R		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AGGATGACTCCATAGGAGATT	0.448000														79			23		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26228956	26228956	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:26228956C>T	uc003abz.1	+	15	3302	c.3052C>T	c.(3052-3054)Ccc>Tcc	p.P1018S	MYO18B_uc003aca.1_Missense_Mutation_p.P899S|MYO18B_uc010guy.1_Missense_Mutation_p.P899S|MYO18B_uc010guz.1_Missense_Mutation_p.P899S|MYO18B_uc011aka.1_Missense_Mutation_p.P172S|MYO18B_uc011akb.1_Missense_Mutation_p.P531S	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1018	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin 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						GGATCAAAATCCCTCTCAGGT	0.502000														57			9		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113259285	113259285	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:113259285C>T	uc003ynu.3	-	63	10345	c.10186G>A	c.(10186-10188)Gat>Aat	p.D3396N	CSMD3_uc003yns.3_Missense_Mutation_p.D2598N|CSMD3_uc003ynt.3_Missense_Mutation_p.D3356N|CSMD3_uc011lhx.2_Missense_Mutation_p.D3227N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3396	Sushi 27.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACGTAAGATCAGGGAGGCAG	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				50			9		0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48023039	48023039	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:48023039A>G	uc002rwd.4	+	2	616	c.464A>G	c.(463-465)aAa>aGa	p.K155R	MSH6_uc002rwc.2_Missense_Mutation_p.K155R|MSH6_uc010fbj.3_Intron|MSH6_uc010yoj.2_5'UTR	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	155					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTAGGTTCAAAATCAAAGGAA	0.438000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					44			6		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62038750	62038750	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:62038750T>G	uc002jds.1	-	10	1725	c.1648A>C	c.(1648-1650)Aag>Cag	p.K550Q		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	550					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGGGCGCACTTGTACCACCAT	0.582000														203			49		0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37688326	37688326	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:37688326C>T	uc003xkj.3	+	6	1203	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L	GPR124_uc010lvy.3_Silent_p.L273L	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	273	Ig-like.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGCCAGCTACCTGGGCAACGA	0.657000														8			6		0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433330	55433330	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:55433330G>A	uc010rik.2	+	0	688	c.688G>A	c.(688-690)Ggg>Agg	p.G230R		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CAGCTCTAAAGGGCGGCACAA	0.493000														103			22		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578750	9578750	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:9578750G>A	uc002mlp.1	-	9	1083	c.873C>T	c.(871-873)tcC>tcT	p.S291S	ZNF560_uc010dwr.1_Silent_p.S185S	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGCCTTCAAAGGATTTATCTT	0.393000														106			34		0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96342189	96342189	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:96342189C>T	uc003kmv.1	+	10	2519	c.2005C>T	c.(2005-2007)Caa>Taa	p.Q669*	LNPEP_uc003kmw.1_Nonsense_Mutation_p.Q655*	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	669					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTCAAAATATCAATCGGTATC	0.303000														30			17		0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147488344	147488344	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:147488344G>A	uc003lox.2	+	17	1709	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N	SPINK5_uc010jgs.1_Missense_Mutation_p.D518N|SPINK5_uc010jgr.2_Missense_Mutation_p.D527N|SPINK5_uc003low.2_Missense_Mutation_p.D546N|SPINK5_uc003loy.2_Missense_Mutation_p.D546N	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	546	Kazal-like 8.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gaagaaaaatgataaagaaga	0.333000														94			23		0	0	1	0	0
TMEM202	338949	broad.mit.edu	37	15	72690748	72690748	+	Splice_Site	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:72690748G>A	uc002auq.3	+	1	81	c.81_splice	c.e1+1	p.R27_splice	TMEM202_uc002aur.3_Splice_Site	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	Homo sapiens transmembrane protein 202 (TMEM202), mRNA.	27						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						AATACCAAAGGGTGAGGAGGT	0.433000														20			7		0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	49825013	49825013	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:49825013C>T	uc002itv.4	-	4	1199	c.463G>A	c.(463-465)Gga>Aga	p.G155R	CA10_uc002itw.4_Missense_Mutation_p.G149R|CA10_uc002itx.4_Missense_Mutation_p.G149R|CA10_uc002ity.4_Missense_Mutation_p.G149R|CA10_uc002itz.2_Missense_Mutation_p.G149R	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	149					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			AAGGCCTGTCCATTGAGGAGG	0.502000														138			33		0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54050045	54050045	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:54050045C>T	uc001jjm.3	+	16	2140	c.1912C>T	c.(1912-1914)Cca>Tca	p.P638S	PRKG1_uc001jjo.3_Missense_Mutation_p.P653S|PRKG1_uc009xow.2_Missense_Mutation_p.P356S|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	638	AGC-kinase C-terminal.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TCCTATAATACCAAGTGTAAG	0.333000														88			27		0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171621186	171621186	+	Missense_Mutation	SNP	C	T	T	rs144579767		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:171621186C>T	uc001ghu.3	-	0	588	c.566G>A	c.(565-567)cGa>cAa	p.R189Q	MYOC_uc010pmk.2_Missense_Mutation_p.R131Q	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	189			R -> Q.		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.R189L(2)|p.R189R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGCAGTGTCTCGGGTCTGGGG	0.567000														242			67		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65180387	65180387	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:65180387C>T	uc002lke.1	-	1	2713	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	DSEL_uc021ulg.1_Missense_Mutation_p.E497K	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	487						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TAGAGAGCTTCAGAAACAAAT	0.453000														95			23		0	0	1	0	0
MB	4151	broad.mit.edu	37	22	36003385	36003385	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:36003385C>T	uc003anz.3	-	2	504	c.424G>A	c.(424-426)Gac>Aac	p.D142N	MB_uc003aoa.3_Missense_Mutation_p.D142N|MB_uc003aob.3_Missense_Mutation_p.D142N	NM_005368	NP_976312	P02144	MYG_HUMAN	Homo sapiens myoglobin (MB), transcript variant 1, mRNA.	142							heme binding|oxygen transporter activity			lung(1)	1						GAGGCCATGTCCTTCCGGAAC	0.637000														39			7		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33505195	33505195	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:33505195G>A	uc021vft.1	+	18	3105	c.3082G>A	c.(3082-3084)Gga>Aga	p.G1028R	LTBP1_uc002rou.3_Missense_Mutation_p.G702R|LTBP1_uc002rov.3_Missense_Mutation_p.G649R|LTBP1_uc010ymz.2_Missense_Mutation_p.G702R|LTBP1_uc010yna.2_Missense_Mutation_p.G649R	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1028	EGF-like 7; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGCACAGAAGGATTCCGAGG	0.428000														68			22		0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113320486	113320486	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:113320486G>T	uc021xcn.1	+	10	1748	c.1097G>T	c.(1096-1098)gGg>gTg	p.G366V	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.G366V|SIDT1_uc011big.2_Missense_Mutation_p.G119V|SIDT1_uc021xcq.1_5'Flank	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	366						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						ACACCCGAAGGGAGCAATTAT	0.428000														43			15		1.3612e-06	1.37171e-06	1	1	0
KDR	3791	broad.mit.edu	37	4	55972865	55972865	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:55972865C>T	uc003has.3	-	10	1827	c.1525G>A	c.(1525-1527)Gga>Aga	p.G509R	KDR_uc003hat.1_Missense_Mutation_p.G509R|KDR_uc011bzx.2_Missense_Mutation_p.G509R	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	509	Ig-like C2-type 5.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTGTTTTTTCCTTCAATTAGA	0.323000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				31			10		0	0	1	0	0
C3orf15	89876	broad.mit.edu	37	3	119445028	119445028	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:119445028C>T	uc003ede.4	+	6	770	c.693C>T	c.(691-693)ctC>ctT	p.L231L	C3orf15_uc010hqy.2_Silent_p.L231L|C3orf15_uc010hqz.3_Silent_p.L169L|C3orf15_uc011bjd.2_Silent_p.L105L|C3orf15_uc011bje.2_Silent_p.L211L|C3orf15_uc010hra.2_5'UTR	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	231						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		GTCGGGGTCTCCCAGCAGGAC	0.547000														21			5		0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99358483	99358483	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr13:99358483C>T	uc001vno.3	-	15	1251	c.1174G>A	c.(1174-1176)Gga>Aga	p.G392R		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	392					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	ACTTCGTTTCCTTTGGGGAAG	0.393000														48			18		0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95372700	95372700	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:95372700G>A	uc001kiu.4	+	0	356	c.218G>A	c.(217-219)gGg>gAg	p.G73E		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	73					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CAGGAGGAGGGGGGCACCCCA	0.672000														38			10		0	0	1	0	0
PPP2R4	5524	broad.mit.edu	37	9	131891325	131891325	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:131891325C>T	uc004bxm.2	+	4	670	c.383C>T	c.(382-384)cCa>cTa	p.P128L	PPP2R4_uc004bxl.2_Missense_Mutation_p.P93L|PPP2R4_uc011mbo.2_Missense_Mutation_p.P128L|PPP2R4_uc010myr.2_Intron|PPP2R4_uc004bxn.2_Missense_Mutation_p.P93L|PPP2R4_uc004bxo.2_Intron|PPP2R4_uc011mbp.2_Missense_Mutation_p.P64L|PPP2R4_uc011mbq.1_Intron|PPP2R4_uc010mys.2_Missense_Mutation_p.P58L	NM_178001	NP_821068	Q15257	PTPA_HUMAN	Homo sapiens protein phosphatase 2A activator, regulatory subunit 4 (PPP2R4), transcript variant 1, mRNA.	128					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		GAGACTCCTCCAGTGGACCAG	0.547000														47			13		0	0	1	0	0
SBDS	51119	broad.mit.edu	37	7	66458322	66458322	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:66458322A>T	uc003tvm.1	-	2	525	c.341T>A	c.(340-342)aTt>aAt	p.I114N		NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Homo sapiens Shwachman-Bodian-Diamond syndrome (SBDS), mRNA.	114				I -> F (in Ref. 2; AAD34092).	bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|rRNA processing|ribosomal large subunit biogenesis	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|rRNA binding|ribosome binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GTCTGCCACAATAGTTGCAAT	0.398000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome					145			43		0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790366	248790366	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:248790366C>T	uc001ier.1	-	0	64	c.64G>A	c.(64-66)Ggg>Agg	p.G22R		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AATACAATCCCGGCAGCCTCA	0.532000														67			18		0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132439895	132439895	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:132439895G>A	uc004exc.1	-	5	1272	c.1060C>T	c.(1060-1062)Cgt>Tgt	p.R354C	GPC4_uc011mvg.1_Missense_Mutation_p.R284C	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	354					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GAGATGGAACGAGAAATTCGT	0.562000														172			82		0	0	1	0	0
ZNF558	148156	broad.mit.edu	37	19	8922209	8922209	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:8922209G>A	uc002mkn.1	-	5	1187	c.957C>T	c.(955-957)ccC>ccT	p.P319P	ZNF558_uc010xkh.1_Silent_p.P248P|ZNF558_uc010dwg.1_Silent_p.P319P	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.K318K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TACATTCATAGGGTTTTTCTC	0.443000														75			26		0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	334970	334970	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:334970C>T	uc002kkm.3	-	5	1803	c.1588G>A	c.(1588-1590)Ggc>Agc	p.G530S		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	530	Collagen-like 3.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CCTGGTGGGCCCGGGGGGCCT	0.716000														18			3		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112754998	112754998	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:112754998T>A	uc002thk.1	+	9	1671	c.1549T>A	c.(1549-1551)Ttg>Atg	p.L517M	MERTK_uc002thl.1_Missense_Mutation_p.L341M	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	517					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTTGATTGGGTTGATTTTATA	0.458000														112			28		0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593955	16593955	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:16593955C>T	uc002gqk.1	+	0	317	c.241C>T	c.(241-243)Ctt>Ttt	p.L81F		NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	81																	CCTGGAAGATCTTGGCGAGCT	0.632000														161			47		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21484573	21484573	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:21484573C>T	uc002kuq.3	+	50	6616	c.6530C>T	c.(6529-6531)aCc>aTc	p.T2177I	LAMA3_uc002kur.3_Missense_Mutation_p.T2121I|LAMA3_uc002kus.4_Missense_Mutation_p.T568I|LAMA3_uc002kut.4_Missense_Mutation_p.T512I	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2177	Domain II and I.				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)	GATGCCGCCACCGCCTACGAG	0.617000														17			4		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545844	82545844	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:82545844C>T	uc003uhx.2	-	6	11747	c.11458G>A	c.(11458-11460)Gaa>Aaa	p.E3820K	PCLO_uc003uhv.2_Missense_Mutation_p.E3820K|PCLO_uc010lec.3_Missense_Mutation_p.E785K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3751	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAGGCTCGTTCTCTCTTTTCT	0.453000														73			34		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	233990529	233990529	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:233990529G>A	uc010zmo.2	+	3	577	c.424G>A	c.(424-426)Gag>Aag	p.E142K	INPP5D_uc010zmp.2_Missense_Mutation_p.E141K	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	142					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			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)		TGAGGCCAAGGAGGTTCCTTT	0.582000														30			4		0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079978	70079978	+	Missense_Mutation	SNP	G	A	A	rs142415589	byFrequency	TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:70079978G>A	uc003heh.3	-	0	472	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	155					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCACCACAGGGAAAAACAGCA	0.398000														106			25		0	0	1	0	0
SMARCB1	6598	broad.mit.edu	37	22	24167438	24167438	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:24167438C>T	uc002zyd.3	+	6	1056	c.849C>T	c.(847-849)tcC>tcT	p.S283S	SMARCB1_uc002zya.3_Intron|SMARCB1_uc002zyb.3_Silent_p.S274S|SMARCB1_uc002zyc.3_Silent_p.S265S	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	274	2 X approximate tandem repeats.				DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(6)|p.M283fs*77(1)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GAAACATTTCCCTGGTGGACC	0.572000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid								81			26		0	0	1	0	0
GOT1	2805	broad.mit.edu	37	10	101162412	101162412	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:101162412C>T	uc001kpr.3	-	7	1235	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K		NM_002079	NP_002070	P17174	AATC_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) (GOT1), mRNA.	343					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TTGAGGGCTTCTAGTCGTGCC	0.517000														54			23		0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2951169	2951169	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:2951169G>A	uc011mhj.2	+	8	1432	c.1432G>A	c.(1432-1434)Gac>Aac	p.D478N		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	478						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AACCTACCACGACCCACCACT	0.473000														54			31		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30740291	30740292	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:30740291_30740292CC>TT	uc002dze.1	+	25	6048_6049	c.5663_5664CC>TT	c.(5662-5664)tcc>tTT	p.S1888F	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.S1683F	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1888					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCCCAGGACTCCCTGGAGGAAA	0.510000														101			18		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21213314	21213314	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:21213314C>T	uc010bwn.1	-	11	1517	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	ZP2_uc002dii.2_Missense_Mutation_p.E440K	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	440	ZP.				binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GCATGTATTTCGTTTTCATAG	0.393000														125			35		0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89607244	89607244	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:89607244C>T	uc001dna.2	-	8	1592	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K	GBP2_uc001dmy.1_Intron	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	485						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		ATGGCCTTCTCTCCAGCAGTG	0.507000														57			49		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21065751	21065751	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:21065751G>A	uc010vbe.2	-	27	4029	c.4029C>T	c.(4027-4029)atC>atT	p.I1343I		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1343	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGTGGACATCGATGACCGTGA	0.532000														33			14		0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161569295	161569295	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:161569295G>A	uc010jjc.3	+	7	1373	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	GABRG2_uc003lyy.4_Missense_Mutation_p.D299N|GABRG2_uc003lyz.4_Missense_Mutation_p.D299N|GABRG2_uc011dej.2_Missense_Mutation_p.D204N	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	299					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GATCAATAAGGATGCTGTTCC	0.403000														97			39		0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97605259	97605259	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:97605259G>A	uc010qoj.2	+	5	818	c.755G>A	c.(754-756)cGc>cAc	p.R252H	ENTPD1_uc001kle.1_Missense_Mutation_p.R247H|ENTPD1_uc001kli.4_Missense_Mutation_p.R247H|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Missense_Mutation_p.R132H|ENTPD1_uc010qol.2_Missense_Mutation_p.R132H|ENTPD1_uc001klh.4_Missense_Mutation_p.R240H|ENTPD1_uc010qom.2_Missense_Mutation_p.R240H|ENTPD1_uc010qon.2_Missense_Mutation_p.R102H|ENTPD1_uc009xva.3_Missense_Mutation_p.R102H	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	240					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		CTGCAATTTCGCCTCTATGGC	0.488000														115			27		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34649228	34649228	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:34649228A>G	uc010ucc.2	+	7	3401	c.3019A>G	c.(3019-3021)Acc>Gcc	p.T1007A	C15orf55_uc010ucd.2_Missense_Mutation_p.T997A|C15orf55_uc001zif.3_Missense_Mutation_p.T979A	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	979						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		TAGAAGGGGAACCAGGAATGC	0.478000			T	"""BRD3, BRD4"""	lethal midline carcinoma									31			15		0	0	1	0	0
C12orf26	84190	broad.mit.edu	37	12	82796832	82796832	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:82796832A>G	uc001szq.3	+	4	1271	c.1202A>G	c.(1201-1203)aAc>aGc	p.N401S		NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	Homo sapiens chromosome 12 open reading frame 26 (C12orf26), mRNA.	401										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	19						TTTACCTCCAACTCTGAAATC	0.383000														45			12		0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158065068	158065068	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:158065068C>T	uc003ipj.2	+	7	1063	c.861C>T	c.(859-861)tcC>tcT	p.S287S	GLRB_uc021xtp.1_Silent_p.S287S|GLRB_uc021xtq.1_Silent_p.S287S	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	287					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CCTGGCTTTCCTTCTGGATCA	0.507000														51			26		0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184910033	184910033	+	Missense_Mutation	SNP	G	A	A	rs140662313		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:184910033G>A	uc003fpf.3	-	6	2229	c.2153C>T	c.(2152-2154)tCc>tTc	p.S718F	EHHADH_uc011brs.2_Missense_Mutation_p.S622F	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA.	718						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	ACTGCTAGGGGAGCCTGCCAA	0.433000														72			29		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906821	13906821	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:13906821C>T	uc001rbt.2	-	2	619	c.440G>A	c.(439-441)gGc>gAc	p.G147D		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	147					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AATTGATGGGCCAAACTGGAA	0.393000														56			16		0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10280489	10280489	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:10280489C>T	uc003bve.1	+	11	1607	c.1531C>T	c.(1531-1533)Cct>Tct	p.P511S		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	511					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GACGTTGCTCCCTTGGAGTGG	0.562000														115			33		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20150033	20150033	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:20150033G>A	uc002wru.3	+	12	1428	c.1314G>A	c.(1312-1314)gtG>gtA	p.V438V	C20orf26_uc010zse.2_Silent_p.V418V|C20orf26_uc010zsf.1_Silent_p.V438V	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	438								p.V438M(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGAACTTCGTGAAAATGGTCC	0.488000														73			26		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683600	100683600	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:100683600C>T	uc003uxp.1	+	2	8956	c.8903C>T	c.(8902-8904)tCt>tTt	p.S2968F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2968	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTAGTTCTTCTCCTACAACT	0.527000														407			128		0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98655019	98655019	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr13:98655019C>T	uc001vne.3	+	14	1549	c.1369C>T	c.(1369-1371)Cat>Tat	p.H457Y	IPO5_uc001vnf.1_Missense_Mutation_p.H439Y|IPO5_uc010tik.1_Missense_Mutation_p.H314Y|IPO5_uc010til.1_Missense_Mutation_p.H379Y|IPO5_uc001vng.1_Missense_Mutation_p.H60Y	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	439					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						AAAGAAATTTCATGAGAAGGT	0.418000														66			23		0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56875705	56875705	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:56875705C>T	uc002eka.3	+	20	2430	c.2309C>T	c.(2308-2310)tCg>tTg	p.S770L	NUP93_uc002ekb.3_Missense_Mutation_p.S647L|NUP93_uc010vhi.2_Missense_Mutation_p.S647L	NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN	Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.	770					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AGTCCATCCTCGTCATCCAGG	0.512000														107			24		0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17690307	17690307	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:17690307G>A	uc002zmk.1	-	0	473	c.261C>T	c.(259-261)ttC>ttT	p.F87F	CECR1_uc010gqu.1_Silent_p.F87F|CECR1_uc011agi.1_Silent_p.F45F|CECR1_uc011agj.1_Silent_p.F45F	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	87	Dimerization.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GCTTGGCCTGGAAAAAGTGCA	0.502000														46			9		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62598778	62598778	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:62598778G>A	uc010ihh.3	+	4	874	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	LPHN3_uc003hcq.4_Missense_Mutation_p.R234Q|LPHN3_uc010ihg.1_Missense_Mutation_p.R302Q|LPHN3_uc003hcs.1_Missense_Mutation_p.R63Q	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	234	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.R234W(1)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTTGATTTGCGGACTAGGATA	0.463000														33			7		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10348126	10348126	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:10348126C>T	uc002gmn.3	-	37	5668	c.5557G>A	c.(5557-5559)Gaa>Aaa	p.E1853K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1853					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin 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						TAAGTGAGTTCCTTCACTCTT	0.428000														112			32		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25275033	25275033	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr13:25275033C>T	uc010aaa.3	+	12	2205	c.1872C>T	c.(1870-1872)gtC>gtT	p.V624V	ATP12A_uc001upp.3_Silent_p.V618V	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	618					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.A624T(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CAGATGCAGTCACCAAATGCC	0.463000														58			14		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50089728	50089728	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:50089728G>A	uc004dox.4	+	9	4030	c.3732G>A	c.(3730-3732)atG>atA	p.M1244I	CCNB3_uc004doy.3_Missense_Mutation_p.M1244I|CCNB3_uc004doz.3_Missense_Mutation_p.M140I|CCNB3_uc010njq.3_Missense_Mutation_p.M136I|CCNB3_uc004dpa.3_Missense_Mutation_p.M83I	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	1244					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TACTCAGCATGGAAATCAACA	0.458000														78			15		0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121712076	121712076	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:121712076G>A	uc001tzv.3	-	1	1083	c.254C>T	c.(253-255)aCc>aTc	p.T85I	CAMKK2_uc001tzt.3_Missense_Mutation_p.T85I|CAMKK2_uc001tzu.3_Missense_Mutation_p.T85I|CAMKK2_uc001tzw.3_Missense_Mutation_p.T85I|CAMKK2_uc001tzx.3_Missense_Mutation_p.T85I|CAMKK2_uc001tzy.3_Missense_Mutation_p.T85I|CAMKK2_uc001uaa.1_Missense_Mutation_p.T85I|CAMKK2_uc001uab.3_Missense_Mutation_p.T85I|CAMKK2_uc001uac.3_Missense_Mutation_p.T85I|CAMKK2_uc001uad.2_Missense_Mutation_p.T85I	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	85			T -> S (in dbSNP:rs3817190).		MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGACCCGGAGGTGTCAAGGGG	0.692000														23			10		0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122626951	122626951	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:122626951G>A	uc003yph.2	-	3	1595	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	353						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TTGCTCCAACGGGTCTGCTGG	0.463000														137			76		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117303079	117303079	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:117303079C>T	uc001prh.1	-	29	5350	c.5348G>A	c.(5347-5349)cGg>cAg	p.R1783Q		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1723					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGTTCCTGGCCGGATGTCAGA	0.552000														39			8		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140788545	140788545	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:140788545C>T	uc003lkj.2	+	0	776	c.776C>T	c.(775-777)tCc>tTc	p.S259F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Missense_Mutation_p.S259F	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	259	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCCTGGGTCCCCTGTGTTG	0.468000														41			13		0	0	1	0	0
MSI1	4440	broad.mit.edu	37	12	120791151	120791151	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:120791151G>A	uc001tye.1	-	9	748	c.684C>T	c.(682-684)gcC>gcT	p.A228A		NM_002442	NP_002433	O43347	MSI1H_HUMAN	Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.	228					nervous system development	cytoplasm|nucleus	nucleotide binding	p.Y227Y(1)|p.A228S(1)		breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACTCCGGCTGGCGTAGGTTG	0.607000														91			23		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114286226	114286226	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:114286226C>T	uc003ibe.4	+	40	11020	c.10920C>T	c.(10918-10920)atC>atT	p.I3640I	ANK2_uc003ibd.4_Silent_p.I1546I|ANK2_uc003ibf.4_Silent_p.I1555I|ANK2_uc011cgc.2_Silent_p.I731I|ANK2_uc003ibg.4_Silent_p.I539I|ANK2_uc003ibh.4_Silent_p.I229I	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3607					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCACCAAGATCAACCGAATGG	0.408000														130			32		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24569086	24569086	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:24569086G>A	uc011djo.2	-	12	2563	c.2063C>T	c.(2062-2064)aCc>aTc	p.T688I	KIAA0319_uc011djp.2_Missense_Mutation_p.T643I|KIAA0319_uc003neh.1_Missense_Mutation_p.T688I|KIAA0319_uc011djq.1_Missense_Mutation_p.T679I|KIAA0319_uc011djr.1_Missense_Mutation_p.T688I|KIAA0319_uc010jpt.1_Missense_Mutation_p.T99I	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	688	PKD 4.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GAAGTGGTAGGTCCCCACCTG	0.512000														68			22		0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73023728	73023728	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:73023728C>T	uc002avd.3	+	10	1156	c.818C>T	c.(817-819)gCt>gTt	p.A273V	BBS4_uc010ukv.2_Missense_Mutation_p.A253V|BBS4_uc002avb.3_Missense_Mutation_p.A265V|BBS4_uc002avc.3_Missense_Mutation_p.A93V|BBS4_uc010bja.3_Missense_Mutation_p.A21V	NM_001252678	NP_001239607	Q96RK4	BBS4_HUMAN	Homo sapiens Bardet-Biedl syndrome 4 (BBS4), transcript variant 2, mRNA.	265	Interaction with PCM1.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GTGGCTTGTGCTGTTCCAGAA	0.478000									Bardet-Biedl syndrome					47			13		0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50869716	50869716	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:50869716G>A	uc003blb.2	+	11	1662	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	PPP6R2_uc003blc.3_Missense_Mutation_p.E414K|PPP6R2_uc003bky.2_Missense_Mutation_p.E414K|PPP6R2_uc003bla.2_Missense_Mutation_p.E415K|PPP6R2_uc003bkz.2_Missense_Mutation_p.E414K|PPP6R2_uc003bld.2_5'UTR	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	414						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CAGCGGATCCGAGAGCAGGGT	0.597000														69			21		0	0	1	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150321863	150321863	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:150321863G>A	uc003lsz.1	-	2	304	c.155C>T	c.(154-156)tCc>tTc	p.S52F	ZNF300P1_uc003ltb.3_Non-coding_Transcript|ZNF300P1_uc003lta.2_Non-coding_Transcript					Homo sapiens zinc finger protein 300 pseudogene 1 (ZNF300P1), non-coding RNA.																		ATCTGGTTTGGAAACTGGATA	0.408000														19			4		0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46973157	46973157	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:46973157G>A	uc003gxg.3	-	6	1800	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F	GABRA4_uc021xnz.1_Missense_Mutation_p.L254F|GABRA4_uc021xoa.1_Intron	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	273					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTTGAGAAAGAATCACTGTC	0.363000														44			13		0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31091182	31091182	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:31091182G>A	uc002eap.3	+	1	3826	c.3537G>A	c.(3535-3537)ggG>ggA	p.G1179G	ZNF646_uc021tgu.1_Silent_p.G1179G	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	1179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTGTGAAGGGGGAGGAGATAG	0.592000														20			3		0	0	1	0	0
KANSL2	54934	broad.mit.edu	37	12	49061521	49061521	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:49061521G>A	uc001rrz.2	-	5	1521	c.1477C>T	c.(1477-1479)Cgt>Tgt	p.R493C	KANSL2_uc001rrw.2_Missense_Mutation_p.R115C|KANSL2_uc001rrx.2_Missense_Mutation_p.R310C|KANSL2_uc001rry.2_Non-coding_Transcript|SNORA2B_uc001rsc.1_5'Flank	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 2 (KANSL2), mRNA.	310																	TTGGAACAACGAACATCATCC	0.443000														118			23		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91769606	91769606	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:91769606G>A	uc002bqv.3	+	2	1004	c.113G>A	c.(112-114)gGc>gAc	p.G38D	SV2B_uc002bqt.3_Missense_Mutation_p.G38D|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Intron	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	38					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GTCACCGAAGGCCATGATGAG	0.532000														58			14		0	0	1	0	0
OLR1	4973	broad.mit.edu	37	12	10312595	10312595	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:10312595G>A	uc001qxo.1	-	5	820	c.706C>T	c.(706-708)Cag>Tag	p.Q236*	OLR1_uc010sgz.1_3'UTR|OLR1_uc021qvb.1_3'UTR|OLR1_uc010sha.1_3'UTR	NM_002543	NP_002534	P78380	OLR1_HUMAN	Homo sapiens oxidized low density lipoprotein (lectin-like) receptor 1 (OLR1), transcript variant 1, mRNA.	236	C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GGGTATGTCTGGGAGACAGCG	0.418000														120			30		0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42277461	42277461	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr13:42277461T>C	uc001uyj.3	-	26	3273	c.3203A>G	c.(3202-3204)gAa>gGa	p.E1068G		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1068						extracellular region	ATP binding|ATPase activity	p.E1068K(1)		endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		ATGATGAGTTTCCACTGGACA	0.373000														54			10		0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134232920	134232920	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:134232920G>A	uc003yub.3	+	2	552	c.446G>A	c.(445-447)gGc>gAc	p.G149D	WISP1_uc003yuc.3_Intron|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Intron|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	149	VWFC.				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding	p.D148E(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TGCATCGACGGCGCGGTGGGC	0.672000														95			14		0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111857955	111857955	+	Silent	SNP	C	T	T	rs41282498		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:111857955C>T	uc001eas.3	+	5	535	c.378C>T	c.(376-378)ttC>ttT	p.F126F	CHIA_uc001ear.3_Silent_p.F18F|CHIA_uc001eaq.3_Silent_p.F18F|CHIA_uc009wgc.3_Silent_p.F18F|CHIA_uc001eat.3_Intron|CHIA_uc001eav.3_5'UTR|CHIA_uc001eau.3_Intron|CHIA_uc009wgd.3_Intron	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	126					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TCATCAAATTCCTGCGCCAGT	0.547000														80			88		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44845478	44845478	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:44845478G>A	uc002xrm.2	-	3	1224	c.825C>T	c.(823-825)ccC>ccT	p.P275P	CDH22_uc010ghk.1_Silent_p.P275P|CDH22_uc002xrn.2_Silent_p.P26P	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	275	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GCGGGAAACGGGGCGGGTTGT	0.612000														93			19		0	0	1	0	0
MAPK6	5597	broad.mit.edu	37	15	52356225	52356226	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:52356225_52356226CC>TT	uc002abp.3	+	5	1988_1989	c.1194_1195CC>TT	c.(1192-1197)ccccga>ccTTga	p.R399*		NM_002748	NP_002739	Q16659	MK06_HUMAN	Homo sapiens mitogen-activated protein kinase 6 (MAPK6), mRNA.	399					cell cycle		ATP binding|MAP kinase activity	p.R399Q(1)		breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		AAGTTGATCCCCGAAAATATTT	0.406000														76			29		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656791	40656791	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:40656791C>T	uc002rrx.3	-	0	654	c.630G>A	c.(628-630)tgG>tgA	p.W210*	SLC8A1_uc002rry.3_Nonsense_Mutation_p.W210*|SLC8A1_uc002rsb.2_Nonsense_Mutation_p.W210*|SLC8A1_uc002rrz.3_Nonsense_Mutation_p.W210*|SLC8A1_uc002rsa.3_Nonsense_Mutation_p.W210*|SLC8A1_uc002rsd.4_Nonsense_Mutation_p.W210*|SLC8A1_uc010fan.1_Nonsense_Mutation_p.W210*|SLC8A1_uc002rsc.1_Nonsense_Mutation_p.W210*	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	210					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAAAGATGCTCCAGGCTGCTG	0.433000														45			11		0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149576695	149576695	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:149576695C>T	uc003lrr.3	+	3	811	c.440C>T	c.(439-441)tCc>tTc	p.S147F		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA.	147						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CTCTTCGCCTCCCTCACCAGC	0.622000														55			13		0	0	1	0	0
SFRP2	6423	broad.mit.edu	37	4	154702753	154702753	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:154702753G>A	uc003inv.1	-	2	979	c.738C>T	c.(736-738)acC>acT	p.T246T		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.	246	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				TCTCCTCACAGGTGCACTGCA	0.557000														74			19		0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86518517	86518517	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:86518517G>A	uc004ana.3	-	3	1060	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L	KIF27_uc010mpw.3_Silent_p.L306L|KIF27_uc010mpx.3_Silent_p.L306L	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	306					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTGCCTCCCAGAGAATCTTTC	0.458000														78			24		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47970731	47970731	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:47970731G>A	uc003tny.2	-	5	741	c.707C>T	c.(706-708)cCg>cTg	p.P236L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	236					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATGTGAAATCGGCCACAGGGG	0.597000														41			9		0	0	1	0	0
C17orf51	339263	broad.mit.edu	37	17	21477534	21477534	+	RNA	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:21477534G>A	uc002gyx.1	-	0		c.198C>T						A8MQB3	CQ051_HUMAN	Homo sapiens chromosome 17 open reading frame 51 (C17orf51), mRNA.											endometrium(1)	1						cctgaggatgggatgccgcgc	0.647000														20			4		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026557	37026557	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:37026557C>T	uc004ddl.2	+	0	126	c.74C>T	c.(73-75)cCg>cTg	p.P25L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	25								p.P25L(3)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGTGACAAACCGCCTTCCAAG	0.647000														24			5		0	0	1	0	0
C9orf152	401546	broad.mit.edu	37	9	112963442	112963442	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:112963442C>T	uc011lwk.2	-	1	1060	c.506G>A	c.(505-507)gGa>gAa	p.G169E	C9orf152_uc022blq.1_5'Flank	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	169										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GATTCCGGTTCCTTGCTGAGT	0.493000														162			58		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66501045	66501045	+	RNA	SNP	T	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:66501045T>C	uc004aed.1	+	2		c.1138T>C								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		TGTCTGGACTTCAGAGCACCT	0.562000														1			2		0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50329957	50329957	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:50329957G>A	uc003czb.3	-	2	301	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	IFRD2_uc011bdp.2_5'UTR	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	106							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGAGCGCGCAGGCGACGGCGG	0.637000														36			10		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31323187	31323187	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:31323187C>T	uc003jhe.2	+	11	2505	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	715					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCAGAGATTTCATTAACCAAA	0.532000														49			14		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178417617	178417617	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:178417617G>A	uc003mjr.3	-	3	1167	c.988C>T	c.(988-990)Ctg>Ttg	p.L330L	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	330					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		CTTTTGGGCAGGATGGTGATG	0.642000														20			6		0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17417986	17417986	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:17417986C>T	uc011kye.2	+	8	1616	c.1568C>T	c.(1567-1569)tCc>tTc	p.S523F	SLC7A2_uc011kyc.2_Missense_Mutation_p.S483F|SLC7A2_uc011kyd.2_Missense_Mutation_p.S522F	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	483					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TTCTGCCCCTCCCTTCTGCCA	0.537000														114			50		0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26152834	26152835	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:26152834_26152835GG>AA	uc002rgu.2	-	5	2761_2762	c.2104_2105CC>TT	c.(2104-2106)ccc>TTc	p.P702F	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Missense_Mutation_p.P700F	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	702	Globular (Potential).				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGTACCTGGGGTGGGACCCC	0.609000														84			35		0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7463275	7463275	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:7463275C>T	uc001qsx.1	+	2	553	c.553C>T	c.(553-555)Ctt>Ttt	p.L185F		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	185					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GTGTCCTGACCTTAAGACAAA	0.527000														16			5		0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131261452	131261452	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:131261452C>T	uc011blq.2	-	14	1652	c.1542G>A	c.(1540-1542)gaG>gaA	p.E514E	CPNE4_uc003eok.3_Silent_p.E496E|CPNE4_uc003eol.3_Silent_p.E514E|CPNE4_uc003eom.3_Silent_p.E496E|CPNE4_uc003eoj.3_Silent_p.E47E	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	496										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GAAGAACAGGCTCTCCCTTGG	0.507000														82			26		0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44624459	44624460	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:44624459_44624460CC>TT	uc021xnx.1	-	5	831_832	c.814_815GG>AA	c.(814-816)gga>AAa	p.G272K		NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Homo sapiens Yip1 domain family, member 7 (YIPF7), mRNA.	272						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GGCAAAAAGTCCATAAAGTATG	0.401000														39			5		0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44685012	44685012	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:44685012C>T	uc003tln.3	+	2	468	c.309C>T	c.(307-309)tcC>tcT	p.S103S	OGDH_uc003tlm.3_Silent_p.S103S|OGDH_uc011kbx.2_Silent_p.S103S|OGDH_uc011kby.2_Intron|OGDH_uc003tlp.3_Silent_p.S103S|OGDH_uc011kbz.2_5'UTR|OGDH_uc003tlo.1_5'UTR	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	103					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GCCGAGGCTCCCTGGCTGCTG	0.592000														104			29		0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912994	77912994	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:77912994G>A	uc022bzi.1	-	0	924	c.924C>T	c.(922-924)ttC>ttT	p.F308F	ZCCHC5_uc004edc.1_Silent_p.F308F	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	308							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCACAGGTATGAAACTTTCAC	0.478000														16			5		0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5430119	5430119	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:5430119C>T	uc003soi.4	-	3	833	c.484G>A	c.(484-486)Gga>Aga	p.G162R	TNRC18_uc010ksx.1_Missense_Mutation_p.G88R|TNRC18_uc003sok.1_Missense_Mutation_p.G88R	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	162							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTCTTACCTCCTCCTGGCCCC	0.652000														23			6		0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44840966	44840966	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:44840966G>A	uc002zdf.2	-	6	799	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	224	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						TAGGCCCATCGAAGGGGAGAG	0.652000														26			5		0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221451	5221451	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:5221451C>T	uc010qyz.2	-	0	480	c.480G>A	c.(478-480)agG>agA	p.R160R		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAAAAAACTCCTACCTATTA	0.393000														88			22		0	0	1	0	0
C6orf70	55780	broad.mit.edu	37	6	170156844	170156844	+	Silent	SNP	C	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:170156844C>A	uc003qxg.1	+	4	480	c.447C>A	c.(445-447)ccC>ccA	p.P149P	C6orf70_uc011ehb.1_Silent_p.P23P|C6orf70_uc003qxh.1_Silent_p.P149P|C6orf70_uc010kky.1_Silent_p.P23P	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA.	149						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		AGGAATGCCCCTTTCTTTTAA	0.348000														82			27		2.61193e-14	2.66295e-14	1	1	0
GABBR1	2550	broad.mit.edu	37	6	29574966	29574966	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:29574966A>T	uc003nmt.4	-	16	2358	c.2022T>A	c.(2020-2022)ttT>ttA	p.F674L	GABBR1_uc003nmp.4_Missense_Mutation_p.F557L|GABBR1_uc003nms.4_Missense_Mutation_p.F557L|GABBR1_uc003nmu.4_Missense_Mutation_p.F612L|GABBR1_uc011dlr.2_Missense_Mutation_p.F497L	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	674					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	AGCCCAGACTAAAGCCCAGGC	0.562000														68			19		0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90648060	90648060	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:90648060G>A	uc011eab.2	-	7	2720	c.1846C>T	c.(1846-1848)Cct>Tct	p.P616S	BACH2_uc003pnw.3_Missense_Mutation_p.P616S	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	616						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ACAGGAAAAGGAAGTTTTACC	0.353000														53			5		0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78056532	78056532	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:78056532G>A	uc002ffh.4	+	0	90	c.9G>A	c.(7-9)aaG>aaA	p.K3K		NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	3					skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CCATGGCAAAGAATGGACTTG	0.532000														27			8		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106471667	106471667	+	RNA	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:106471667C>T	uc021ser.1	-	2491		c.43408G>A								Parts of antibodies, mostly variable regions.																		AGAGGATCCTCCAGGTCCAGT	0.557000														35			6		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41566359	41566359	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:41566359C>T	uc003xok.3	-	16	2019	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_5'Flank|ANK1_uc003xoi.3_Silent_p.E645E|ANK1_uc003xoj.3_Silent_p.E645E|ANK1_uc003xol.3_Silent_p.E645E|ANK1_uc003xom.3_Silent_p.E678E	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	645	89 kDa domain.				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			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)			CTGCGTGGCCCTCCTGGGCGG	0.622000														161			30		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105193629	105193629	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:105193629G>A	uc004emd.3	+	26	4716	c.4413G>A	c.(4411-4413)atG>atA	p.M1471I	NRK_uc011msi.2_Missense_Mutation_p.M53I	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1472	CNH.		G -> A (in dbSNP:rs34232354).				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						GAATTGGCATGATGCTCACCT	0.373000										HNSCC(51;0.14)				41			14		0	0	1	0	0
MAPK11	5600	broad.mit.edu	37	22	50705394	50705394	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:50705394G>A	uc003bkr.3	-	6	637	c.579C>T	c.(577-579)atC>atT	p.I193I	MAPK11_uc010hay.1_Non-coding_Transcript|MAPK11_uc011art.1_3'UTR|MAPK11_uc010haz.2_Silent_p.I85I	NM_002751	NP_002742	Q15759	MK11_HUMAN	Homo sapiens mitogen-activated protein kinase 11 (MAPK11), mRNA.	193	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGTTGAGCATGATCTCAGGTG	0.642000														37			9		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457569	110457569	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:110457569G>A	uc003yne.3	+	37	5575	c.5471G>A	c.(5470-5472)gGa>gAa	p.G1824E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1824	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGCTCTGGGAAACCTGACT	0.473000										HNSCC(38;0.096)				95			17		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207741239	207741239	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:207741239C>T	uc001hfy.3	+	16	2813	c.2673C>T	c.(2671-2673)ccC>ccT	p.P891P	CR1_uc009xcl.1_Silent_p.P441P|CR1_uc001hfx.3_Silent_p.P1341P|CR1_uc021pij.1_Silent_p.P891P|CR1_uc009xck.1_Silent_p.P441P	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	891	Sushi 14.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.P896P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAGTCTTTCCCTTTGGAAAAG	0.468000														178			58		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751397	140751397	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:140751397C>T	uc003ljw.2	+	0	1436	c.1436C>T	c.(1435-1437)cCc>cTc	p.P479L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.P479L|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	481	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S479L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTCGGATCCCGACTTGGGA	0.612000														111			24		0	0	1	0	0
PAAF1	80227	broad.mit.edu	37	11	73620448	73620448	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:73620448C>T	uc001ouk.1	+	6	571	c.537C>T	c.(535-537)atC>atT	p.I179I	PAAF1_uc001oul.1_Silent_p.I162I|PAAF1_uc001oum.1_Silent_p.I162I	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	Homo sapiens proteasomal ATPase-associated factor 1 (PAAF1), mRNA.	179					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					TGCTAGGTATCCTGGATACAG	0.512000														65			22		0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166535800	166535800	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:166535800C>T	uc002udf.3	+	6	1671	c.1295C>T	c.(1294-1296)tCt>tTt	p.S432F	CSRNP3_uc002udg.3_Missense_Mutation_p.S432F	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	432					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TATGCCAACTCTTCAACTCTG	0.423000														118			46		0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883616	19883616	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr16:19883616G>A	uc010vav.2	-	1	861	c.630C>T	c.(628-630)acC>acT	p.T210T	GPRC5B_uc021tef.1_Silent_p.T176T|GPRC5B_uc002dgt.3_Silent_p.T184T	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	184										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CACGCAGCACGGTGAGCACCA	0.652000														67			10		0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45762442	45762442	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:45762442C>T	uc002pbb.2	+	1	578	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	MARK4_uc002paz.2_Intron|MARK4_uc002pba.2_Missense_Mutation_p.R83W	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.	83	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCTCACTGGTCGGGAGGTGAG	0.617000														26			8		0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2464742	2464742	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr20:2464742G>A	uc002wge.1	-	5	1353	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C	ZNF343_uc010gao.1_Missense_Mutation_p.R289C|ZNF343_uc002wgd.1_Missense_Mutation_p.R199C	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GAGTGTATACGATGGTGTCTG	0.478000														83			28		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215815680	215815680	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:215815680G>A	uc002vew.3	-	44	6995	c.6775C>T	c.(6775-6777)Ctc>Ttc	p.L2259F	ABCA12_uc002vev.3_Missense_Mutation_p.L1941F|ABCA12_uc010zjn.2_Missense_Mutation_p.L1186F	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2259	ABC transporter 2.				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)		GTCTTTGTGAGACAATAAAGT	0.408000														112			39		0	0	1	0	0
KANSL1L	151050	broad.mit.edu	37	2	210940450	210940450	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:210940450G>A	uc002vds.3	-	5	1789	c.1581C>T	c.(1579-1581)tcC>tcT	p.S527S	KANSL1L_uc002vdt.3_Silent_p.S527S|KANSL1L_uc002vdw.3_Silent_p.S527S|KANSL1L_uc002vdv.3_Silent_p.S527S|KANSL1L_uc002vdx.1_Silent_p.S527S	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	Homo sapiens chromosome 2 open reading frame 67 (C2orf67), mRNA.	527																	AGCTACTGGAGGAAGACAGCT	0.383000														41			7		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19360599	19360599	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:19360599G>A	uc002nlz.3	+	14	3944	c.3845G>A	c.(3844-3846)cGa>cAa	p.R1282Q	NCAN_uc002nma.3_Missense_Mutation_p.D38N	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1282				R -> G (in Ref. 1; AAC80576).	axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CGGATGCGGCGAcaccaccac	0.592000														36			15		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103070049	103070049	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:103070049G>A	uc001phn.1	+	48	8076	c.7932G>A	c.(7930-7932)ctG>ctA	p.L2644L	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.L2644L	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2644	AAA 4 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATAGAGTGCTGAGTTTCCCTG	0.423000														23			7		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976362	131976362	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:131976362G>A	uc002tsn.2	+	0	439	c.387G>A	c.(385-387)atG>atA	p.M129I	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	129							ATP binding										GCGCCTTCATGGAGCCCAGGT	0.602000														107			20		0	0	1	0	0
HOXC5	3222	broad.mit.edu	37	12	54427267	54427267	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:54427267G>T	uc001sew.3	+	0	436	c.361G>T	c.(361-363)Gag>Tag	p.E121*	HOXC5_uc001set.3_Intron|HOXC4_uc001seu.3_Intron|MIR615_uc021qyl.1_5'Flank	NM_018953	NP_061826	Q00444	HXC5_HUMAN	Homo sapiens homeobox C5 (HOXC5), transcript variant 1, mRNA.	121					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GATCAAAGAGGAGCAGGCGCA	0.637000														10			3		0.115264	0.115411	1	1	0
PAX6	5080	broad.mit.edu	37	11	31816322	31816322	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:31816322G>T	uc009yjr.3	-	7	1007	c.538C>A	c.(538-540)Cag>Aag	p.Q180K	PAX6_uc001mtd.4_Missense_Mutation_p.Q180K|PAX6_uc001mte.4_Missense_Mutation_p.Q180K|PAX6_uc001mtg.4_Missense_Mutation_p.Q194K|PAX6_uc001mtf.4_Missense_Mutation_p.Q180K|PAX6_uc001mth.4_Missense_Mutation_p.Q180K|PAX6_uc021qfl.1_Missense_Mutation_p.Q194K|PAX6_uc021qfm.1_Missense_Mutation_p.Q194K|PAX6_uc021qfn.1_Missense_Mutation_p.Q180K	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	180	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CCTCCTTCCTGTTGCTGGCAG	0.468000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation					84			18		7.07596e-05	7.12143e-05	1	1	0
PHF21B	112885	broad.mit.edu	37	22	45309857	45309857	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:45309857G>A	uc003bfn.3	-	4	827	c.676C>T	c.(676-678)Cat>Tat	p.H226Y	PHF21B_uc011aqk.2_Intron|PHF21B_uc003bfm.3_Intron|PHF21B_uc011aql.2_Intron|PHF21B_uc011aqm.1_Intron	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	226							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		AAGATGCCATggaggggtgaa	0.642000														51			18		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114117542	114117542	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:114117542C>T	uc003ibe.4	+	2	305	c.205C>T	c.(205-207)Cat>Tat	p.H69Y	ANK2_uc003ibd.4_Missense_Mutation_p.H48Y|ANK2_uc003ibf.4_Missense_Mutation_p.H69Y|ANK2_uc003ibc.2_Missense_Mutation_p.H45Y|ANK2_uc011cgb.1_Missense_Mutation_p.H84Y	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	69					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAACGCTCTCCATCTGGCTGC	0.483000														30			8		0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820590	35820590	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:35820590G>A	uc010ngt.1	+	1	556	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	MAGEB16_uc022bus.1_Missense_Mutation_p.E93K	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	93										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TCAAGAAGAGGAAGATAGTCC	0.493000														11			10		0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	130013326	130013326	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:130013326G>A	uc010sby.2	+	17	2432	c.2275G>A	c.(2275-2277)Gag>Aag	p.E759K	APLP2_uc001qfp.3_Missense_Mutation_p.E747K|APLP2_uc001qfq.3_Missense_Mutation_p.E691K|APLP2_uc010sbz.2_Missense_Mutation_p.E547K|APLP2_uc001qfr.3_Missense_Mutation_p.E513K|APLP2_uc001qfs.3_Missense_Mutation_p.E518K|APLP2_uc021qsg.1_Missense_Mutation_p.E757K|APLP2_uc001qfv.3_Missense_Mutation_p.E650K|APLP2_uc009zcv.3_Missense_Mutation_p.E107K	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	759					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CAAATACCTGGAGCAGATGCA	0.567000														77			26		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541282	55541282	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:55541282C>T	uc010ril.2	+	0	369	c.369C>T	c.(367-369)gaC>gaT	p.D123D		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y122Y(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGGCTTATGACCGTTTTGTGG	0.428000														174			40		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	205990441	205990441	+	Missense_Mutation	SNP	C	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:205990441C>A	uc002var.2	+	9	1621	c.1414C>A	c.(1414-1416)Cat>Aat	p.H472N	PARD3B_uc010fub.2_Missense_Mutation_p.H472N|PARD3B_uc002vao.2_Missense_Mutation_p.H472N|PARD3B_uc002vap.2_Missense_Mutation_p.H472N|PARD3B_uc002vaq.2_Missense_Mutation_p.H472N	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	472					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCAAGAAGGACATTTTCTGCC	0.498000														101			33		2.42023e-17	2.47394e-17	1	1	0
PRR16	51334	broad.mit.edu	37	5	120022042	120022042	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:120022042C>T	uc003ksq.3	+	1	716	c.553C>T	c.(553-555)Cag>Tag	p.Q185*	PRR16_uc003ksp.3_Nonsense_Mutation_p.Q162*|PRR16_uc003ksr.3_Nonsense_Mutation_p.Q115*	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	185	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GGCTCCAGTCCAGCTTCTGAT	0.473000														58			17		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21871732	21871732	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:21871732C>T	uc001war.2	-	15	3463	c.3398G>A	c.(3397-3399)gGc>gAc	p.G1133D	CHD8_uc001was.2_Missense_Mutation_p.G854D|CHD8_uc001wav.1_Missense_Mutation_p.G296D	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1133					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AACCAGTTTGCCGGCTGAACG	0.458000														21			3		0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35251304	35251304	+	Missense_Mutation	SNP	G	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:35251304G>C	uc010edn.1	-	3	790	c.402C>G	c.(400-402)aaC>aaG	p.N134K	ZNF599_uc010edm.2_Missense_Mutation_p.N97K	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CTGGCCTCAAGTTCCCTTCCT	0.443000														144			24		0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13826736	13826736	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:13826736G>A	uc010xaf.2	+	0	1194	c.972G>A	c.(970-972)agG>agA	p.R324R		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	324					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TTCCCAGAAGGGATTAAGCAC	0.522000														70			14		0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145415587	145415587	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:145415587C>T	uc001eni.2	+	2	731	c.406C>T	c.(406-408)Cca>Tca	p.P136S	HFE2_uc001enk.2_Missense_Mutation_p.P23S|HFE2_uc001enj.2_Intron|HFE2_uc001enl.2_Intron|HFE2_uc021oux.1_5'Flank	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	136					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ccccgcccTTCCAGGCGCGGG	0.682000														18			11		0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284653	33284653	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:33284653G>A	uc003oeb.3	-	1	193	c.41C>T	c.(40-42)cCc>cTc	p.P14L	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.P14L|ZBTB22_uc021ywm.1_Missense_Mutation_p.P14L	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CAGCGGCAGGGGAAGTGCTGC	0.647000														19			4		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255812	15255812	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:15255812C>T	uc001iob.3	-	7	1782	c.1775G>A	c.(1774-1776)gGg>gAg	p.G592E		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	592				G -> R (in Ref. 4; AAH34232).		integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGAGTGGTCCCCGGGGAGTTT	0.547000														103			36		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113697683	113697683	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:113697683G>A	uc003ynu.3	-	14	2593	c.2434C>T	c.(2434-2436)Cag>Tag	p.Q812*	CSMD3_uc003yns.3_Nonsense_Mutation_p.Q84*|CSMD3_uc003ynt.3_Nonsense_Mutation_p.Q772*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.Q708*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	812	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGTCAGCCTGAAATTCCAAT	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				102			18		0	0	1	0	0
STARD4	134429	broad.mit.edu	37	5	110835665	110835665	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:110835665C>T	uc003kph.1	-	5	621	c.537G>A	c.(535-537)ggG>ggA	p.G179G	STARD4_uc010jbw.1_Silent_p.G81G|STARD4_uc010jbx.1_Silent_p.G81G|STARD4_uc003kpi.1_Non-coding_Transcript	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA.	179	START.				lipid transport		lipid binding	p.G179G(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		GAGGAATCATCCCACGCAGAT	0.413000														118			29		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11500355	11500355	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:11500355G>A	uc021zzo.1	-	10	2791	c.2539C>T	c.(2539-2541)Cct>Tct	p.P847S	THSD7A_uc021zzn.1_Missense_Mutation_p.P847S	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	847						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACGCTCCAAGGGACTAATTGG	0.547000										HNSCC(18;0.044)				15			4		0	0	1	0	0
C22orf42	150297	broad.mit.edu	37	22	32550255	32550255	+	Missense_Mutation	SNP	C	T	T	rs143164067		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:32550255C>T	uc003amd.3	-	1	324	c.283G>A	c.(283-285)Ggg>Agg	p.G95R		NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN	Homo sapiens chromosome 22 open reading frame 42 (C22orf42), mRNA.	95								p.G95E(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						GGCCAAATCCCGTGCCGTCTC	0.368000														106			33		0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102059467	102059467	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:102059467C>T	uc001kqx.1	-	2	741	c.358G>A	c.(358-360)Gga>Aga	p.G120R	PKD2L1_uc009xwm.1_Missense_Mutation_p.G73R	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	120					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	p.G120V(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTTGTCATTCCATAGGTCACT	0.483000														96			25		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118198896	118198896	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:118198896G>A	uc001two.2	-	3	874	c.819C>T	c.(817-819)atC>atT	p.I273I		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	302	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGAATCCCGGGATCAAGTGTA	0.662000														119			25		0	0	1	0	0
DNAJC2	27000	broad.mit.edu	37	7	102967028	102967028	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:102967028G>A	uc003vbo.3	-	4	785	c.534C>T	c.(532-534)ttC>ttT	p.F178F	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.3_5'UTR|DNAJC2_uc010lix.3_Silent_p.F178F|DNAJC2_uc003vbp.3_5'UTR|DNAJC2_uc003vbq.1_Non-coding_Transcript	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 2 (DNAJC2), transcript variant 1, mRNA.	178	ZRF1-UBD.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	DNA binding|Hsp70 protein binding|chromatin binding|histone binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						ACACTTCGAAGAAATTATCCT	0.378000														64			11		0	0	1	0	0
ERAP1	51752	broad.mit.edu	37	5	96139153	96139153	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:96139153G>A	uc003kmm.3	-	1	824	c.477C>T	c.(475-477)ttC>ttT	p.F159F	ERAP1_uc003kml.3_Silent_p.F159F|ERAP1_uc010jbm.2_Intron|ERAP1_uc003kmn.3_Silent_p.F159F	NM_001040458	NP_001185470	Q9NZ08	ERAP1_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1), transcript variant 2, mRNA.	159					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		AAAATCCGTGGAAAGTCTCCG	0.478000														86			22		0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56481944	56481944	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:56481944C>T	uc001sjh.3	+	6	1148	c.872C>T	c.(871-873)cCc>cTc	p.P291L	ERBB3_uc009zoj.3_Non-coding_Transcript|ERBB3_uc010sqb.2_Intron|ERBB3_uc010sqc.2_Missense_Mutation_p.P232L|ERBB3_uc001sji.3_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	291					Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCCAGCTGTCCCCGTAAGTGT	0.443000														31			12		0	0	1	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028743	59028743	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:59028743G>A	uc002qtd.3	-	1	590	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	ZBTB45_uc002qtf.3_Silent_p.L100L	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	Homo sapiens zinc finger and BTB domain containing 45 (ZBTB45), mRNA.	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		AGCACCTGCAGGGCTTCACCC	0.642000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		74			10		0	0	1	0	0
HSPA2	3306	broad.mit.edu	37	14	65009365	65009365	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:65009365A>G	uc001xhj.3	+	1	1874	c.1798A>G	c.(1798-1800)Aaa>Gaa	p.K600E	HSPA2_uc001xhk.4_Missense_Mutation_p.K600E	NM_021979	NP_068814	P54652	HSP72_HUMAN	Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.	600					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ACACAAGCAGAAAGAGCTCGA	0.557000														59			21		0	0	1	0	0
AV4S1	0	broad.mit.edu	37	14	22671117	22671117	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:22671117C>T	uc021rpv.1	+	1	172	c.137C>T	c.(136-138)cCa>cTa	p.P46L	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc010ajm.2_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 26, partial cds, clone: SEB 320.																		TCCCAGGGTCCAGAGTACGTG	0.478000														39			13		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120989063	120989063	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:120989063C>T	uc010rzo.2	+	5	839	c.839C>T	c.(838-840)aCc>aTc	p.T280I		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	280	VWFC.				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)		TTGAACTGCACCGTCAAGTGC	0.502000														63			13		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24365022	24365022	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:24365022C>T	uc003xeb.3	+	20	2351	c.2238C>T	c.(2236-2238)atC>atT	p.I746I	ADAM7_uc003xec.3_Intron	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	746					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.I746I(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAAGAGGAATCGCAGATCCCA	0.388000														106			17		0	0	1	0	0
RPL6	6128	broad.mit.edu	37	12	112846061	112846062	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:112846061_112846062CC>TT	uc001ttu.3	-	2	547_548	c.318_319GG>AA	c.(316-321)gtggtt>gtAAtt	p.V107I	RPL6_uc001ttv.3_Missense_Mutation_p.V107I|RPL6_uc009zwd.1_3'UTR	NM_001024662	NP_001019833	Q02878	RL6_HUMAN	Homo sapiens ribosomal protein L6 (RPL6), transcript variant 1, mRNA.	107					endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						CGAAGTTTAACCACCCGGGTAC	0.396000														69			14		0	0	1	0	0
MPZL2	10205	broad.mit.edu	37	11	118130816	118130816	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:118130816C>T	uc001psn.3	-	3	920	c.537G>A	c.(535-537)cgG>cgA	p.R179R	MPZL2_uc001pso.3_Silent_p.R179R	NM_005797	NP_658911	O60487	MPZL2_HUMAN	Homo sapiens myelin protein zero-like 2 (MPZL2), transcript variant 1, mRNA.	179					anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		ATCGCTTTTTCCGGTAATGCT	0.478000														250			70		0	0	1	0	0
RAF1	5894	broad.mit.edu	37	3	12650812	12650812	+	Missense_Mutation	SNP	T	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:12650812T>G	uc003bxf.4	-	3	758	c.343A>C	c.(343-345)Aat>Cat	p.N115H	RAF1_uc011aut.2_5'UTR|RAF1_uc011auu.2_Missense_Mutation_p.N33H	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	115	RBD.				Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.N115S(1)	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	GCATCAGTATTCCAATCTAAG	0.338000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					92			32		0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42172063	42172063	+	Splice_Site	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr15:42172063C>T	uc001zos.3	-	15	3040	c.2707_splice	c.e15-1	p.N903_splice		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	938					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGAGGAAGTTCTAGGGAAAAG	0.562000														33			14		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431105	135431105	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:135431105C>T	uc004ezu.1	+	5	5531	c.5240C>T	c.(5239-5241)cCt>cTt	p.P1747L	GPR112_uc010nsb.1_Missense_Mutation_p.P1542L|GPR112_uc010nsc.1_Missense_Mutation_p.P1514L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1747					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCACTGTTCCTGAAAATATG	0.428000														103			51		0	0	1	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766345	27766345	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:27766345G>A	uc011mjy.2	+	0	1420	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CAATGATGACGATATTTACCT	0.423000														44			14		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123797169	123797169	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr9:123797169G>A	uc004bkv.3	-	4	526	c.496C>T	c.(496-498)Cct>Tct	p.P166S	C5_uc010mvm.1_Missense_Mutation_p.P166S|C5_uc010mvn.1_Missense_Mutation_p.P166S	NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	166					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GATCCTTCAGGATCCTGTAAA	0.299000														19			9		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7401454	7401454	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:7401454C>T	uc002ghf.4	+	7	1646	c.1260C>T	c.(1258-1260)atC>atT	p.I420I	POLR2A_uc002ghe.3_Silent_p.I420I	NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	420					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|RNA-directed RNA polymerase activity|metal ion binding|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)				AGTACATCATCCGAGACAATG	0.532000														63			21		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534542	92534542	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:92534542C>T	uc001pdj.4	+	8	8380	c.8363C>T	c.(8362-8364)cCc>cTc	p.P2788L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2788	Cadherin 25.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCCACTATACCCCTGGACAAA	0.418000										TCGA Ovarian(4;0.039)				43			10		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13829767	13829767	+	Missense_Mutation	SNP	A	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:13829767A>G	uc003jfd.2	-	37	6338	c.6296T>C	c.(6295-6297)aTt>aCt	p.I2099T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2099	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCGGAAATTAATCTTCAAGTT	0.463000									Kartagener syndrome					87			13		0	0	1	0	0
CARM1	10498	broad.mit.edu	37	19	11022910	11022910	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:11022910C>T	uc002mpz.3	+	4	735	c.609C>T	c.(607-609)gcC>gcT	p.A203A	CARM1_uc010dxn.3_Non-coding_Transcript|CARM1_uc002mqa.3_5'UTR	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.	203					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	p.A202V(2)|p.A203P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TTTTTGCCGCCCAAGCTGGAG	0.627000														227			64		0	0	1	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76681226	76681226	+	RNA	SNP	G	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:76681226G>C	uc003ufy.2	+	4		c.1203G>C								Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) pseudogene (LOC100132832), non-coding RNA.																		TGTCACACTTGAAGGAGGCAG	0.453000														9			2		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2813131	2813131	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:2813131C>T	uc022aqr.1	-	63	10364	c.9974G>A	c.(9973-9975)gGa>gAa	p.G3325E	CSMD1_uc011kwj.2_Missense_Mutation_p.G2655E|CSMD1_uc010lrg.3_Missense_Mutation_p.G1217E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3326	Sushi 28.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGCGACTTTCCTGTCCATTT	0.488000														57			16		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71896784	71896784	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:71896784C>T	uc010fen.3	+	50	5833	c.5692C>T	c.(5692-5694)Cgt>Tgt	p.R1898C	DYSF_uc010fei.3_Missense_Mutation_p.R1876C|DYSF_uc010feh.3_Missense_Mutation_p.R1866C|DYSF_uc002sig.4_Missense_Mutation_p.R1845C|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R1890C|DYSF_uc010fee.3_Missense_Mutation_p.R1880C|DYSF_uc010fef.3_Missense_Mutation_p.R1897C|DYSF_uc002sie.3_Missense_Mutation_p.R1859C|DYSF_uc010feo.3_Missense_Mutation_p.R1891C|DYSF_uc010fej.3_Missense_Mutation_p.R1867C|DYSF_uc010fel.3_Missense_Mutation_p.R1846C|DYSF_uc010fem.3_Missense_Mutation_p.R1881C|DYSF_uc002sif.3_Missense_Mutation_p.R1860C|DYSF_uc010fek.3_Missense_Mutation_p.R1877C|DYSF_uc010yqy.2_Missense_Mutation_p.R740C|DYSF_uc010yqz.2_Missense_Mutation_p.R620C	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1859						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						CGTGCATTATCGTTCCCTGGG	0.438000														102			29		0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184931511	184931511	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:184931511G>A	uc003ivz.1	+	2	2955	c.1520G>A	c.(1519-1521)gGg>gAg	p.G507E	STOX2_uc003iwa.1_Missense_Mutation_p.G196E	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	507					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TCTTCTCTAGGGACGCCGGAA	0.547000														15			4		0	0	1	0	0
WWTR1	25937	broad.mit.edu	37	3	149374934	149374934	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:149374934T>C	uc003exf.3	-	1	500	c.160A>G	c.(160-162)Aag>Gag	p.K54E	WWTR1_uc003exe.3_Missense_Mutation_p.K54E|WWTR1_uc021xfm.1_Missense_Mutation_p.K54E|WWTR1_uc003exh.3_Missense_Mutation_p.K54E|AK309441_uc010hvg.1_Non-coding_Transcript|WWTR1-AS1_uc003exi.2_5'Flank	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	Homo sapiens WW domain containing transcription regulator 1 (WWTR1), transcript variant 1, mRNA.	54					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCAGGCTCCTTAAAGAAAGAC	0.632000			T	CAMTA1	epitheliod hemangioendothelioma									9			4		0	0	1	0	0
OR1A2	26189	broad.mit.edu	37	17	3100893	3100893	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:3100893C>T	uc002fvd.1	+	0	81	c.81C>T	c.(79-81)ttC>ttT	p.F27F		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						ATAATGTCTTCTTTGTGATTT	0.403000														118			40		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45127319	45127319	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:45127319G>A	uc003com.3	-	8	2457	c.2322C>T	c.(2320-2322)ccC>ccT	p.P774P		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	774						extracellular region|integral to membrane|plasma membrane		p.P774P(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TGGGTGGGGAGGGAGGACAGA	0.617000														86			27		0	0	1	0	0
DONSON	29980	broad.mit.edu	37	21	35281407	35281407	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:35281407G>T	uc002ytl.3	-	3	398	c.307C>A	c.(307-309)Ccc>Acc	p.P103T	DONSON_uc002ysn.1_5'UTR	NM_001697	NP_001688	Q9NYP3	DONS_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (ATP5O), nuclear gene encoding mitochondrial protein, mRNA.	125					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						GTAGTGAGGGGAGAGAACCTC	0.433000														81			19		8.34094e-07	8.41618e-07	1	1	0
CDKL4	344387	broad.mit.edu	37	2	39431685	39431685	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:39431685C>T	uc010fal.2	-	3	437	c.437G>A	c.(436-438)gGg>gAg	p.G146E	CDKL4_uc002rrm.3_Missense_Mutation_p.G146E	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	Homo sapiens cyclin-dependent kinase-like 4 (CDKL4), mRNA.	146	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TTGTGCAAACCCGAAGTCACA	0.279000														36			8		0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964180	94964180	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr14:94964180G>A	uc001ydj.3	-	2	1351	c.555C>T	c.(553-555)acC>acT	p.T185T		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	185					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.T185T(4)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TTTTCCCATGGGTTTTTTGAC	0.398000														106			40		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95792002	95792002	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:95792002G>A	uc001kjk.3	+	1	1833	c.1199G>A	c.(1198-1200)tGg>tAg	p.W400*	PLCE1_uc010qnx.2_Nonsense_Mutation_p.W400*	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	400					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAAGCCCAGTGGTATCCTGTA	0.393000														49			16		0	0	1	0	0
ECHS1	1892	broad.mit.edu	37	10	135184102	135184102	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:135184102C>T	uc001lmu.3	-	1	319	c.248G>A	c.(247-249)gGg>gAg	p.G83E		NM_004092	NP_004083	P30084	ECHM_HUMAN	Homo sapiens enoyl CoA hydratase, short chain, 1, mitochondrial (ECHS1), nuclear gene encoding mitochondrial protein, mRNA.	83					fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		GACAATGGCCCCCACGGCCGG	0.627000														19			9		0	0	1	0	0
FXYD1	5348	broad.mit.edu	37	19	35633400	35633400	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:35633400G>A	uc002nyc.3	+	5	302	c.231G>A	c.(229-231)gaG>gaA	p.E77E	LGI4_uc002nxy.1_5'Flank|FXYD1_uc002nyd.3_Silent_p.E77E|FXYD7_uc010xsp.1_5'Flank|FXYD7_uc002nye.1_5'Flank	NM_021902	NP_068702	O00168	PLM_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 1 (FXYD1), transcript variant b, mRNA.	77					muscle contraction	chloride channel complex|integral to plasma membrane	chloride channel activity			lung(3)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			ATGAAGAGGAGGGAACTTTCC	0.622000														77			15		0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102153961	102153961	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr3:102153961G>A	uc003dvt.1	+	0	103	c.3G>A	c.(1-3)atG>atA	p.M1I	ZPLD1_uc003dvs.1_Intron|ZPLD1_uc011bhg.1_5'UTR	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	0						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATGGCAAGATGATGCTCAGGT	0.383000														62			17		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806758	54806758	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:54806758C>T	uc003pck.3	+	4	3105	c.2989C>T	c.(2989-2991)Cga>Tga	p.R997*		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	997								p.R997Q(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAACAAGTTTCGAGGATTTAT	0.333000														47			20		0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4796787	4796787	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:4796787C>T	uc010vsl.2	+	20	2703	c.2459C>T	c.(2458-2460)gCc>gTc	p.A820V	MINK1_uc010vsk.2_Missense_Mutation_p.A791V|MINK1_uc010vsm.2_Missense_Mutation_p.A800V|MINK1_uc010vsn.2_Missense_Mutation_p.A783V|MINK1_uc010vso.2_Missense_Mutation_p.A728V|MINK1_uc010vsp.2_Missense_Mutation_p.A281V	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	820					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CCCAAGAAGGCCATGGACTAC	0.647000														55			17		0	0	1	0	0
LGALS9C	654346	broad.mit.edu	37	17	18396080	18396080	+	Silent	SNP	T	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:18396080T>G	uc002gtw.3	+	9	901	c.831T>G	c.(829-831)gcT>gcG	p.A277A	LGALS9C_uc010vyb.2_Silent_p.A189A	NM_001040078	NP_001035167	Q6DKI2	LEG9C_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9C (LGALS9C), mRNA.	277	Galectin 2.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						ATGAGAATGCTGTGGTCCGTA	0.572000														95			5		0	0	1	0	0
LMAN1	3998	broad.mit.edu	37	18	57014755	57014755	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:57014755C>T	uc002lhz.3	-	6	844	c.812G>A	c.(811-813)gGa>gAa	p.G271E		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	271					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CGGCTCTTTTCCAGGTTCAGT	0.323000														15			8		0	0	1	0	0
LIPN	643418	broad.mit.edu	37	10	90528662	90528662	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:90528662C>T	uc010qmw.2	+	4	649	c.649C>T	c.(649-651)Cta>Tta	p.L217L		NM_001102469	NP_001095939	Q5VXI9	LIPN_HUMAN	Homo sapiens lipase, family member N (LIPN), mRNA.	217					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		CAGGTTTTTTCTACTTCCAAA	0.368000														55			13		0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77451873	77451873	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr11:77451873G>A	uc001oyn.3	-	3	601	c.481C>T	c.(481-483)Ctc>Ttc	p.L161F		NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	161					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CAGTACATGAGGCCATCTTTG	0.398000														65			20		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754779	76754779	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr18:76754779G>A	uc002lmt.3	+	1	2788	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	SALL3_uc010dra.3_Missense_Mutation_p.E537K	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	930					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGAGCCCCAGGAAATCCCGCT	0.746000														14			3		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143042803	143042803	+	Missense_Mutation	SNP	C	G	G			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:143042803C>G	uc003wcr.1	+	16	2207	c.2120C>G	c.(2119-2121)tCc>tGc	p.S707C	CLCN1_uc011ktc.1_Missense_Mutation_p.S319C	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	707					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CGGCCCGAGTCCTTCGCCTTT	0.667000											OREG0018402	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		4			4		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19737500	19737500	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr21:19737500G>A	uc002ykw.3	-	6	761	c.730C>T	c.(730-732)Cca>Tca	p.P244S		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	244	CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GAAGGTTTTGGATAATGAGTA	0.368000														85			21		0	0	1	0	0
C17orf28	283987	broad.mit.edu	37	17	72954844	72954844	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr17:72954844G>A	uc002jmj.4	-	9	1313	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	C17orf28_uc010wrs.2_Silent_p.F187F	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	388						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					TCTTCAGCACGAAGAAGAGGA	0.612000											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			14		0	0	1	0	0
ETV7	51513	broad.mit.edu	37	6	36334677	36334677	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr6:36334677C>T	uc003omb.3	-	6	1142	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	ETV7_uc003olz.2_Missense_Mutation_p.E295K|ETV7_uc003oma.2_Missense_Mutation_p.E240K|ETV7_uc003omc.3_Missense_Mutation_p.E240K|ETV7_uc010jwj.3_Missense_Mutation_p.E236K|ETV7_uc010jwi.3_Missense_Mutation_p.E218K|ETV7_uc010jwh.3_Missense_Mutation_p.E214K|ETV7_uc011dtl.2_Missense_Mutation_p.E144K	NM_016135	NP_001193970	Q9Y603	ETV7_HUMAN	Homo sapiens ets variant 7 (ETV7), transcript variant 1, mRNA.	295					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						TGCCCCGGTTCCTTCTTAATG	0.542000														277			75		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179710443	179710443	+	Silent	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr2:179710443C>T	uc002une.2	-	21	3502	c.3384G>A	c.(3382-3384)ccG>ccA	p.P1128P	CCDC141_uc002unf.1_Silent_p.P607P	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	553							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTTCCAAATTCGGATTCATCT	0.368000														38			18		0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23381647	23381648	+	Silent	DNP	CC	TT	TT			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:23381647_23381648CC>TT	uc001bgi.2	+	4	965_966	c.816_817CC>TT	c.(814-819)ccccta>ccTTta	p.272_273PL>PL	KDM1A_uc001bgj.2_Silent_p.292_293PL>PL	NM_015013	NP_055828	O60341	KDM1A_HUMAN	Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA.	272	SWIRM.				blood coagulation|muscle cell development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	MyoD binding|androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H3-dimethyl-K4 specific)|ligand-dependent nuclear receptor transcription coactivator activity|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGATAAAACCCCTACCAAGTAA	0.376000														103			83		0	0	1	0	0
AQPEP	206338	broad.mit.edu	37	5	115341655	115341655	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:115341655C>T	uc003kro.3	+	12	2248	c.2084C>T	c.(2083-2085)tCc>tTc	p.S695F	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	695					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										GATGCCTTTTCCTTGTCTAAG	0.348000														47			9		0	0	1	0	0
NTF3	4908	broad.mit.edu	37	12	5603549	5603549	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:5603549G>A	uc001qnl.4	+	0	252	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	NTF3_uc001qnk.4_Missense_Mutation_p.E70K	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	57					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GGACGTTAAGGAAAATTACCA	0.527000														88			24		0	0	1	0	0
POLL	27343	broad.mit.edu	37	10	103340153	103340153	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr10:103340153G>A	uc001ktg.1	-	6	1981	c.1215C>T	c.(1213-1215)gcC>gcT	p.A405A	DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_Silent_p.A78A|POLL_uc001kte.1_Silent_p.A97A|POLL_uc001kth.1_Silent_p.A130A|POLL_uc001ktj.2_Silent_p.A405A|POLL_uc010qqb.2_Non-coding_Transcript|POLL_uc001ktf.3_Silent_p.A313A|POLL_uc001kti.2_Silent_p.A405A|POLL_uc001ktl.3_Silent_p.A317A|POLL_uc001ktm.3_Silent_p.A405A|POLL_uc010qqc.2_Silent_p.A97A|POLL_uc010qqa.2_Silent_p.A144A	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	405					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CAGAGTTAAAGGCCTGGGCTG	0.607000								DNA polymerases (catalytic subunits)						53			11		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18273570	18273570	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:18273570G>A	uc002zng.4	-	31	6290	c.5937C>T	c.(5935-5937)ctC>ctT	p.L1979L	MICAL3_uc011agl.2_Silent_p.L1895L|MICAL3_uc010grd.2_Silent_p.L95L|MICAL3_uc010gre.2_Non-coding_Transcript	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1979						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)		CTCTCTCCCGGAGCCGCTGCT	0.582000														26			7		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143028643	143028643	+	Splice_Site	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr7:143028643G>A	uc003wcr.1	+	10	1152	c.1065_splice	c.e10-1	p.G355_splice	CLCN1_uc011ktc.1_Splice_Site_p.G17_splice	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	355					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TACACCCTCAGGATTTGCTGT	0.473000														63			15		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107838825	107838825	+	Missense_Mutation	SNP	C	T	T	rs104886330		TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chrX:107838825C>T	uc022ccg.1	+	21	1712	c.1510C>T	c.(1510-1512)Cct>Tct	p.P504S	COL4A5_uc004enz.1_Missense_Mutation_p.P504S|COL4A5_uc004eob.1_Missense_Mutation_p.P112S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	504	Triple-helical region.		Missing (in APSX; juvenile type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.P504S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCTCCCAGGTCCTCCAGGTAA	0.403000									Alport syndrome with Diffuse Leiomyomatosis					53			16		0	0	1	0	0
RWDD4	201965	broad.mit.edu	37	4	184562617	184562617	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr4:184562617C>T	uc021xvb.1	-	7	765	c.539G>A	c.(538-540)aGc>aAc	p.S180N	RWDD4_uc003ivt.1_Missense_Mutation_p.S179N	NM_152682	NP_689895	Q6NW29	RWDD4_HUMAN	Homo sapiens RWD domain containing 4 (RWDD4), mRNA.	180										large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						GCCAGTTTTGCTTAACTATAA	0.328000														105			25		0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59727942	59727942	+	Silent	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:59727942G>A	uc003xtw.1	-	6	1568	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	449						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CCTGCATGGGGAGCTGGTTCC	0.592000														57			14		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540577	55540577	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:55540577G>A	uc003xsd.1	+	3	4283	c.4135G>A	c.(4135-4137)Gaa>Aaa	p.E1379K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1379					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GACAGACCCTGAATATAAAAA	0.328000														88			13		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563687	140563687	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr5:140563687C>T	uc003liv.3	+	0	2708	c.1553C>T	c.(1552-1554)tCg>tTg	p.S518L		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	518	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTCAGGTCGCTGGACTAC	0.697000														48			39		0	0	1	0	0
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	CA	CA			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr1:248801602_248801603insCA	uc001ies.1	-	0	957_958	c.957_958insTG	c.(955-960)gtgatcfs	p.V319fs		NM_001001827	NP_001001827	Q8NGX2	O2T35_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 35 (OR2T35), mRNA.	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I320fs*1(2)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545													---	4	---	---	3	---					
IDO2	169355	broad.mit.edu	37	8	39847305	39847306	+	Frame_Shift_Del	DEL	GC	-	-			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr8:39847305_39847306delGC	uc010lwy.1	+	7	896_897	c.654_655delGC	c.(652-657)cagcgafs	p.Q218fs	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_5'UTR|IDO2_uc003xnp.1_5'UTR	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	205					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						AAGCCCTGCAGCGACTGAGACT	0.535											OREG0018729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	14	---	---	10	---					
CACNA1C	775	broad.mit.edu	37	12	2778120	2778127	+	Frame_Shift_Del	DEL	CCTCTGAA	-	-			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:2778120_2778127delCCTCTGAA	uc009zdu.1	+	39	5102_5109	c.4789_4796delCCTCTGAA	c.(4789-4797)cctctgaacfs	p.P1597fs	CACNA1C_uc001qkc.2_Frame_Shift_Del_p.P1549fs|CACNA1C_uc001qjz.2_Frame_Shift_Del_p.P1549fs|CACNA1C_uc001qkd.2_Frame_Shift_Del_p.P1549fs|CACNA1C_uc001qke.2_Frame_Shift_Del_p.P1538fs|CACNA1C_uc001qkf.2_Frame_Shift_Del_p.P1538fs|CACNA1C_uc009zdw.1_Frame_Shift_Del_p.P1571fs|CACNA1C_uc001qkg.2_Frame_Shift_Del_p.P1536fs|CACNA1C_uc001qkh.2_Frame_Shift_Del_p.P1538fs|CACNA1C_uc001qkl.2_Frame_Shift_Del_p.P1597fs|CACNA1C_uc001qkj.2_Frame_Shift_Del_p.P1549fs|CACNA1C_uc001qkk.2_Frame_Shift_Del_p.P1549fs|CACNA1C_uc001qkn.2_Frame_Shift_Del_p.P1549fs|CACNA1C_uc001qkm.2_Frame_Shift_Del_p.P1538fs|CACNA1C_uc001qko.2_Frame_Shift_Del_p.P1569fs|CACNA1C_uc001qkp.2_Frame_Shift_Del_p.P1549fs|CACNA1C_uc001qkq.2_Frame_Shift_Del_p.P1577fs|CACNA1C_uc001qku.2_Frame_Shift_Del_p.P1549fs|CACNA1C_uc001qkr.2_Frame_Shift_Del_p.P1566fs|CACNA1C_uc001qks.2_Frame_Shift_Del_p.P1549fs|CACNA1C_uc001qkt.2_Frame_Shift_Del_p.P1549fs|CACNA1C_uc009zdv.1_Frame_Shift_Del_p.P1546fs|CACNA1C_uc001qkb.2_Frame_Shift_Del_p.P1549fs|CACNA1C_uc001qki.1_Frame_Shift_Del_p.P1285fs|CACNA1C_uc010sea.1_Frame_Shift_Del_p.P240fs	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1597					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CATGAACATGCCTCTGAACAGCGACGGG	0.587													---	120	---	---	18	---					
UNG	7374	broad.mit.edu	37	12	109536377	109536378	+	Frame_Shift_Ins	INS	-	GT	GT			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr12:109536377_109536378insGT	uc001tnz.2	+	1	359_360	c.273_274insGT	c.(271-276)cccgtgfs	p.P91fs	UNG_uc001toa.2_Frame_Shift_Ins_p.P82fs	NM_080911	NP_550433	P13051	UNG_HUMAN	Homo sapiens uracil-DNA glycosylase (UNG), transcript variant 2, mRNA.	91					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity	p.K90M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GCAACGTGCCCGTGGGCTTTGG	0.594								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM				---	105	---	---	15	---					
ARHGAP35	2909	broad.mit.edu	37	19	47423663	47423665	+	In_Frame_Del	DEL	GTT	-	-			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr19:47423663_47423665delGTT	uc010ekv.3	+	0	1731_1733	c.1731_1733delGTT	c.(1729-1734)cggttt>cgt	p.F578del		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	578					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TTAGTTCTCGGTTTATCCGGCCG	0.468													---	137	---	---	14	---					
BRD1	23774	broad.mit.edu	37	22	50187690	50187690	+	Frame_Shift_Del	DEL	C	-	-			TCGA-GF-A3OT-06A-23D-A23B-08	TCGA-GF-A3OT-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69d54bb-f02f-4d3b-a943-d78f533126d1	fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6	g.chr22:50187690delC	uc011arg.2	-	6	2512	c.2498delG	c.(2497-2499)ggcfs	p.G833fs	BRD1_uc011arf.2_Frame_Shift_Del_p.G379fs|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Frame_Shift_Del_p.G784fs|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Frame_Shift_Del_p.G784fs	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	784					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACCTTCCTCGCCCGCCTCCGG	0.687													---	48	---	---	12	---					
